Alagille syndrome is a genetic disorder that may affect many different parts of the body, including the liver, heart, eyes, face, skeleton, blood vessels, and kidneys.
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A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. Bile ducts carry bile from the liver to the gallbladder for storage and then to the first part of the small intestine, also called the duodenum, for use in digestion. With fewer small bile ducts, less bile flows out of the liver. This condition is called cholestasis. As bile builds up in the liver, it may cause liver damage.
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Bile ducts are tubes that carry bile from the liver to the gallbladder and the duodenum.
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How common is Alagille syndrome?
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About 1 in every 30,000 babies is born with Alagille syndrome.1
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Who is more likely to have Alagille syndrome?
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The gene mutation that causes Alagille syndrome can be passed from parent to child. Children who have one parent with Alagille syndrome have a 50 percent chance of inheriting the gene and having the disease.2
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However, at least half\u201450 to 70 percent\u2014of people with Alagille syndrome do not have a parent with the disease.3 In these cases, the disease is caused by a new gene mutation that is not inherited from a parent.
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The liver signs and symptoms of Alagille syndrome usually appear shortly after birth or in early infancy. For this reason, Alagille syndrome is often diagnosed in children younger than age 1.4
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What are the complications of Alagille syndrome?
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Alagille syndrome can lead to complications that affect the liver and other parts of the body. Alagille syndrome varies greatly from person to person. In different people, the disease may affect different organs. The disease may also affect organs more seriously in some people than in others. Many people with Alagille syndrome have only mild symptoms and can lead normal lives with normal life expectancy. However, others have severe and even life-threatening complications such as liver failure, serious heart defects, and bleeding or stroke due to blood vessel problems.
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Liver complications
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In Alagille syndrome, less bile flows out of the liver, and the buildup of bile in the liver may cause liver damage.
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Some young children with Alagille syndrome have a severe buildup of bile in the liver. In about half of these children, the flow of bile out of the liver improves by age 5. In the other half, the buildup of bile in the liver gets worse and leads to complications.5
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Liver complications of Alagille syndrome may include
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cirrhosis, in which scar tissue replaces healthy liver tissue and prevents the liver from working normally. As cirrhosis gets worse, the liver begins to fail.
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portal hypertension, which occurs when scar tissue partly blocks the flow of blood through the liver, increasing pressure in the portal vein.
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liver failure, a condition in which the liver is badly damaged and stops working. Liver failure may require a liver transplant.
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liver cancer. Alagille syndrome increases the risk for liver cancer.
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Other complications
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Alagille syndrome may cause complications in other parts of the body, such as
bone problems, such as osteoporosis or frequent broken bones
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References
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Symptoms & Causes
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What are the signs and symptoms of Alagille syndrome?
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The most common signs and symptoms of Alagille syndrome are caused by less bile flowing out of the liver. Alagille syndrome may also affect other parts of the body, such as the heart, eyes, face, skeleton, blood vessels, and kidneys.
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The signs and symptoms of Alagille syndrome vary, even among people in the same family. Some people with Alagille syndrome may have mild symptoms or may not know they have the disease. Others may have more severe symptoms, health problems, and complications.
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Liver signs and symptoms
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In Alagille syndrome, the reduced flow of bile out of the liver may lead to the following signs and symptoms
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severe itchiness of the skin, called pruritus
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yellowish color of the whites of the eyes and skin, called jaundice
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darkening of the color of urine and lightening of the color of stools
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fatty deposits that appear as yellow bumps on the skin, called xanthomas
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loose, greasy, bad-smelling stools, a sign that less bile is reaching the small intestine to help digest fats
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an enlarged liver or spleen, which a doctor may notice during a physical exam or imaging tests
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These may be the first signs of Alagille syndrome and often appear in the first year of life.6 While Alagille syndrome commonly affects the liver, a small number of people with the disease have no signs or symptoms of reduced bile flow or liver disease.
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Other signs and health problems
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Alagille syndrome can affect many other parts of the body. Doctors may look for the following signs of the disease
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poor growth and energy, caused by the liver problems and other problems
eye defects such as white or gray-white rings on the corneas, called posterior embryotoxon, which does not affect vision
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facial features such as a wide forehead and a pointed chin and nose
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bones of the skeleton that have an abnormal shape, such as bones in the spine shaped like butterflies, called butterfly vertebrae, which rarely cause problems
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narrowing and weakness in the walls of blood vessels, especially those in the head and neck
Gene mutations cause Alagille syndrome. Mutations of a gene called JAG1 cause most cases of Alagille syndrome. Mutations of a gene called NOTCH2 cause 1 to 2 percent of cases of Alagille syndrome.7
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In at least half\u201450 to 70 percent\u2014of people with Alagille syndrome, the disease is caused by a new gene mutation, meaning that the gene mutation was not inherited from a parent.7
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In the remainder of people who have Alagille syndrome, the gene mutation for the disease is inherited from a parent. Alagille syndrome is an autosomal dominant disease, meaning that a child can get Alagille syndrome by inheriting a gene mutation from only one parent. Children who have one parent with Alagille syndrome have a 50 percent chance of inheriting the gene mutation and having the disease.8
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References
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Diagnosis
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How do doctors diagnose Alagille syndrome?
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Doctors diagnose Alagille syndrome based on signs and symptoms, medical and family history, a physical exam, an eye exam, and medical tests. Doctors may diagnose Alagille syndrome if a person has signs, symptoms, or health problems of the disease in three or more of the following areas
Doctors may also diagnose Alagille syndrome if a person has signs, symptoms, or health problems in two of the above areas and also has a family member with Alagille syndrome.
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Alagille syndrome can be difficult to diagnose because the signs and symptoms vary.
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Medical and family history
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The doctor will ask about a patient\u2019s medical history and signs or symptoms, such as a yellowish color of the whites of the eyes and skin or changes in stool color. The doctor will also ask about the patient\u2019s family history, including the history of liver diseases and other health problems.
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Physical exam
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During a physical exam, the doctor will check for signs of Alagille syndrome such as
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scratch marks on the skin from scratching the itching
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yellowish color of the whites of the eyes and skin
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fatty deposits that appear as yellow bumps on the skin
facial features such as a wide forehead and a pointed chin and nose
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a heart murmur, which a doctor may hear with a stethoscope
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Eye exam
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During a slit-lamp exam, a doctor will use a special light to look for eye defects, such as a white or gray-white ring on the cornea.
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\n \n Doctors use a slit-lamp exam to look for eye defects. \n
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What tests do doctors use to diagnose Alagille syndrome
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Doctors may use blood tests, genetic tests, imaging tests, and liver biopsy to check for signs of Alagille syndrome and health problems related to this disease.
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Blood tests
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The doctor may order one or more blood tests to help diagnose Alagille syndrome. A health care professional will take blood samples and send the samples to a lab.
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Blood tests may include
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liver function tests, which show how well the liver is working and may show signs of Alagille syndrome or other liver problems
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tests that check the levels of cholesterol and triglycerides, which are often higher than normal in people who have Alagille syndrome
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tests that check the levels of fat-soluble vitamins, which are often lower than normal in people who have Alagille syndrome
A health care professional will take a blood sample, which will be tested for gene mutations in a special lab. If a gene mutation for Alagille syndrome is found, a doctor may recommend testing the patient\u2019s parents or other family members for the same mutation.
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If you or your child have, or might have, Alagille syndrome and are considering genetic testing, you and your family may want to consider genetic counseling. Genetic counseling may be useful when you\u2019re deciding whether to have genetic testing and again later when test results are available. Genetic counseling can help you and your family understand how test results may affect your lives.
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Urinalysis
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A urine sample is collected in a special container at a doctor\u2019s office or at a lab. A health care professional will test the sample. Doctors may use urinalysis to check for signs of kidney problems related to Alagille syndrome or to rule out other health problems.
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Imaging tests
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To check for signs and health problems related to Alagille syndrome, doctors may order imaging tests. Imaging tests that doctors use to check for problems with the liver and biliary tract include
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ultrasound, which uses a device called a transducer, which bounces safe, painless sound waves off organs to create images of their structure.
magnetic resonance cholangiopancreatography (MRCP), which uses a magnetic resonance imaging (MRI) machine to create pictures of the bile ducts and pancreatic ducts without x-rays or the need for a special procedure such as surgery or ERCP.
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hepatobiliary scan, which uses a small amount of safe radioactive material to create an image of the bile ducts.
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Doctors may also order imaging tests to look for signs or health problems in other parts of the body. These tests may include
Doctors may order a liver biopsy if the results of other exams and test don\u2019t confirm or rule out a diagnosis of Alagille syndrome.
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During a liver biopsy, a doctor will take small pieces of tissue from your liver. A pathologist will examine the tissue under a microscope to look for features of specific liver diseases, such as Alagille syndrome, and check for liver damage and cirrhosis.
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Treatment
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How do doctors treat Alagille syndrome?
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Doctors may refer people with Alagille syndrome to a hepatologist, a doctor who specializes in liver diseases, to treat liver symptoms and complications. Doctors may also refer patients to specialists who focus on other parts of the body, such as the heart, blood vessels, or kidneys.
Doctors may prescribe ursodiol (Actigall, Urso) to improve the flow of bile from the liver to the small intestine. This medicine may help relieve severe itchy skin and reduce fatty deposits that appear as yellow bumps on the skin.
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To help treat itchy skin, doctors may prescribe medicines such as cholestyramine, rifampin, naltrexone, or antihistamines. Doctors may also recommend using skin moisturizers, keeping baths and showers short, and trimming fingernails to prevent skin damage from scratching.
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Doctors may prescribe medicines to treat symptoms such as severe itchy skin.
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In some cases, liver symptoms may be severe. For example, itchy skin may disturb sleep and affect everyday activities. The size and number of fatty deposits may change appearance or affect vision, eating, or movement. If these severe symptoms don\u2019t improve with medicine, doctors may recommend operations such as
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partial external biliary diversion (PEBD). In PEBD, surgeons remove part of the small intestine and use it to connect the gallbladder to an opening in the abdomen called a stoma. Bile leaves the body through the stoma and is collected in a pouch.
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liver transplant. A doctor may recommend a liver transplant if severe itchy skin and fatty deposits don\u2019t respond to other treatments.
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If liver problems lead to enlargement of the spleen, doctors may recommend avoiding contact sports to prevent spleen injury.
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Other signs and health problems
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Doctors who specialize in the heart, blood vessels, or kidneys may prescribe medicines or recommend surgeries to treat health problems and prevent complications.
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Some signs of Alagille syndrome typically don\u2019t cause health problems or require treatment. Examples include bones in the spine shaped like butterflies, called butterfly vertebrae, and white or gray-white rings on the corneas, called posterior embryotoxon.
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How do doctors treat the complications of Alagille syndrome?
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Liver complications
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If Alagille syndrome leads to cirrhosis and portal hypertension, doctors can treat related health problems and complications with medicines, surgery, and other medical procedures.
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If cirrhosis leads to liver failure, a liver transplant may be needed. People with Alagille syndrome who have other severe health problems, such as serious heart defects, may not be good candidates for a liver transplant. In some cases, doctors may be able to correct other health problems before a liver transplant.
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People who have Alagille syndrome have an increased chance of developing liver cancer. A doctor may order blood tests and an ultrasound or other types of imaging tests to check for liver cancer.
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Other complications
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Doctors may treat serious heart defects and blood vessel problems with surgery.
Experts have not yet found a way to prevent Alagille syndrome. People with Alagille syndrome should see their doctors regularly to help manage symptoms, health problems, and complications. Doctors may be able to prevent some complications or prevent complications from getting worse.
What should people who have Alagille syndrome eat?
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Getting enough nutrients is important for people who have Alagille syndrome, especially infants and children. Getting enough nutrients can help a child with Alagille syndrome grow as much as possible. If you or your child has Alagille syndrome, talk with a doctor or dietitian about a healthy eating plan.
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Doctors and dietitians may recommend
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a high-calorie diet that contains carbohydrates and fats called medium-chain triglycerides (MCTs), which are easier for people with Alagille syndrome to digest
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a special formula for infants that contains MCTs
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regular checks of weight and height, the measures of growth and development during childhood
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regular blood tests to check vitamin levels and separate supplements of fat-soluble vitamins A, D, E, and K and other nutrients as needed
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In some cases, children with Alagille syndrome can\u2019t eat enough food to get the energy needed for growth. A doctor may recommend using a feeding tube to carry nutrients directly to the child\u2019s stomach. The feeding tube may be a nasogastric tube, which is inserted through the nose, or a gastrostomy tube, which is inserted through a small surgical cut in the abdomen.
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Getting enough nutrients is important for people who have Alagille syndrome, especially infants and children.
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What should people who have Alagille syndrome avoid eating?
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People who have Alagille syndrome should talk with their doctor before drinking alcohol. Doctors may recommend not drinking alcohol if Alagille syndrome is causing liver problems.
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Clinical Trials
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The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and other components of the National Institutes of Health (NIH) conduct and support research into many diseases and conditions, including liver diseases.
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What are clinical trials for Alagille syndrome?
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Clinical trials\u2014and other types of clinical studies\u2014are part of medical research and involve people like you. When you volunteer to take part in a clinical study, you help doctors and researchers learn more about disease and improve health care for people in the future.
Watch a video of NIDDK Director Dr. Griffin P. Rodgers explaining the importance of participating in clinical trials.
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What clinical studies for Alagille syndrome are looking for participants?
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You can view a filtered list of clinical studies on Alagille syndrome that are federally funded, open, and recruiting at www.ClinicalTrials.gov. You can expand or narrow the list to include clinical studies from industry, universities, and individuals; however, the NIH does not review these studies and cannot ensure they are safe. Always talk with your health care provider before you participate in a clinical study.
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What have we learned about Alagille syndrome from NIDDK-funded research?
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The NIDDK has supported many research projects to learn more about Alagille syndrome. For example, the NIDDK supports the Childhood Liver Disease Research Network (ChiLDReN), which studies rare liver diseases that affect children, including Alagille syndrome. ChiLDReN researchers have made discoveries about
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how Alagille syndrome affects children\u2019s health and quality of life
gene mutations that might affect the severity of the disease
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This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by NIDDK is carefully reviewed by NIDDK scientists and other experts.
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The NIDDK would like to thank: David A. Piccoli, M.D., The Children's Hospital of Philadelphia
Autoimmune hepatitis is an autoimmune disease. Your immune system normally makes large numbers of antibodies and lymphocytes that help fight off infections. The normal immune system does not attack healthy cells in a person\u2019s body. In autoimmune diseases, your immune system makes certain types of antibodies\u2014called autoantibodies\u2014and lymphocytes that attack your body\u2019s own cells and organs.
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What are the types of autoimmune hepatitis?
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Experts have identified two types of autoimmune hepatitis: type 1 and type 2. The immune system makes different autoantibodies in each type. Type 1 autoimmune hepatitis is more common than type 2, in both adults and children. Only about 5% to 10% of people with autoimmune hepatitis have type 2, and type 2 most often develops during childhood. 1,2
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How common is autoimmune hepatitis?
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Researchers aren\u2019t sure how common autoimmune hepatitis is in the United States. Rates of autoimmune hepatitis vary in different parts of the world and in different age groups. Studies have found that about 4 to 43 out of 100,000 adults and about 2 to 10 out of 100,000 children have autoimmune hepatitis.3
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Who is more likely to have autoimmune hepatitis?
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Autoimmune hepatitis can occur at any age and affects people of all racial and ethnic groups.
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The disease is more common in females than in males. Studies have found that 71% to 95% of adults with autoimmune hepatitis are women, and 60% to 76% of children with the disease are girls.3
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What other conditions do people with autoimmune hepatitis have?
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Some people who have autoimmune hepatitis may also have features of liver diseases that affect the bile ducts\u2014the tubes that carry bile out of the liver\u2014such as
What are the complications of autoimmune hepatitis?
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Autoimmune hepatitis may lead to complications, but early diagnosis and treatment can lower your chances of developing them.
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\n Early diagnosis and treatment of autoimmune hepatitis can lower your chances of developing complications. \n
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Acute liver failure
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Very rarely, autoimmune hepatitis can cause acute liver failure, a condition in which your liver fails rapidly without warning.
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Cirrhosis
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Many people have cirrhosis when they are first diagnosed with autoimmune hepatitis. In cirrhosis, scar tissue replaces healthy liver tissue and prevents your liver from working normally. Scar tissue also partly blocks the flow of blood through the liver. As cirrhosis gets worse, the liver begins to fail.
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Liver failure
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Cirrhosis may eventually lead to liver failure, also called end-stage liver disease. With liver failure, your liver is badly damaged and stops working. People with liver failure may require a liver transplant.
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Liver cancer
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Cirrhosis increases your chance of getting liver cancer. Your doctor may suggest blood tests and an ultrasound or another type of imaging test to check for liver cancer. Finding cancer at an early stage improves the chance of curing the cancer.
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References
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Symptoms & Causes
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What are the symptoms of autoimmune hepatitis?
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People with autoimmune hepatitis may have some of the following symptoms
If you have symptoms of autoimmune hepatitis, they can range from mild to severe.
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Many people with autoimmune hepatitis have no symptoms. In such cases, doctors may find you have signs of liver problems during routine blood tests, and this may lead to a diagnosis of autoimmune hepatitis. People without symptoms at diagnosis may develop symptoms later.
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Some people with autoimmune hepatitis don\u2019t have symptoms until they develop complications due to cirrhosis. These symptoms include
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feeling tired or weak
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losing weight without trying
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swelling of the abdomen from a buildup of fluid, called ascites
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swelling of the lower legs, ankles, or feet, called edema
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itchy skin
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jaundice
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vomiting blood if cirrhosis leads to enlarged veins in the esophagus, called esophageal varices, and those varices burst
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confusion or difficulty thinking if cirrhosis leads to a buildup of toxins in the brain, called hepatic encephalopathy
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What causes autoimmune hepatitis?
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Experts aren\u2019t sure what causes autoimmune hepatitis. Studies suggest that certain genes make some people more likely to develop autoimmune diseases. In people with these genes, factors in the environment may trigger an autoimmune reaction that causes their immune system to attack the liver.
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Researchers are still studying the environmental triggers that play a role in autoimmune hepatitis. These triggers may include certain viruses and medicines.
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Some medicines can cause liver injury that resembles autoimmune hepatitis. In most cases, the liver injury goes away when the medicine is stopped. Telling your doctor the names of all the medicines you take, even over-the-counter medicines or herbal or botanical products, is important.
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Diagnosis
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How do doctors diagnose autoimmune hepatitis?
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Doctors diagnose autoimmune hepatitis based on a combination of information from your medical history, a physical exam, and tests.
swelling in the lower legs, feet, or ankles, called edema
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What tests do doctors use to diagnose autoimmune hepatitis?
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Your doctor may order blood tests, imaging tests, and a liver biopsy to diagnose autoimmune hepatitis. No single test can diagnose autoimmune hepatitis. In most cases, doctors order a combination of tests, including a liver biopsy, to make a diagnosis.
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Blood tests
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Your doctor may order one or more blood tests to look for signs of autoimmune hepatitis or other liver diseases. A health care professional will take a blood sample from you and send the sample to a lab.
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Liver tests
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Liver tests can check levels of the liver enzymes alanine aminotransferase (ALT) and aspartate aminotransferase (AST). ALT and AST are particularly important because these liver enzymes are highly elevated in people with autoimmune hepatitis. Doctors check ALT and AST levels to follow the progress of the disease and how it responds to treatment.
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Antibody tests
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Doctors order antibody tests to check for autoantibodies\u2014antibodies that attack your healthy tissues and cells by mistake\u2014such as antinuclear antibody (ANA) and anti-smooth muscle antibody (SMA). Doctors may also order blood tests to check levels of a type of protein called immunoglobulin G (IgG).
\n Doctors use blood tests to look for signs of autoimmune hepatitis or other liver diseases. \n \n
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Imaging tests
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Your doctor may order imaging tests of your abdomen and liver.
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Ultrasound
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Ultrasound uses a hand-held device, called a transducer, that bounces safe, painless sound waves off organs to create images of their structure. An ultrasound can show whether the liver is enlarged, has an abnormal shape or texture, or has blocked bile ducts.
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Computed tomography (CT)
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CT uses a combination of x-rays and computer technology to create images. A CT scan can show the size and shape of the liver and spleen and whether there are signs of cirrhosis.
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Magnetic resonance imaging (MRI)
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MRI uses radio waves and magnets to produce detailed images of organs and soft tissues without using x-rays. An MRI scan can show the shape and size of the liver and detect evidence of cirrhosis. Special MRI scans can estimate the amount of fat and scarring in the liver.
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Liver biopsy
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During a liver biopsy, a doctor will take a piece of tissue from your liver. A pathologist will examine the tissue under a microscope to look for the amount of damage and features of specific liver diseases. A doctor can use a liver biopsy to look for the features of autoimmune hepatitis and to check the amount of scarring to find out if you have cirrhosis.
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Treatment
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How do doctors treat autoimmune hepatitis?
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Doctors treat autoimmune hepatitis with medicines that suppress\u2014or decrease the activity of\u2014your immune system, reducing your immune system\u2019s attack on your liver. The medicines doctors most often prescribe are
Doctors typically start with a relatively high dose of corticosteroids and then gradually lower the dose. The medicines used to treat autoimmune hepatitis can cause side effects, so your doctor will try to find the lowest dose that works for you.
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Your doctor will use blood tests to check levels of the liver enzymes alanine aminotransferase (ALT) and aspartate aminotransferase (AST). If your ALT and AST levels drop, it means you are responding to the medicines.
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Treatment can relieve symptoms and prevent or reverse liver damage in many people with autoimmune hepatitis. Early treatment of autoimmune hepatitis can lower the chances of developing cirrhosis and other complications. A minority of people with autoimmune hepatitis, including some people who have a mild form of the disease or increased risks related to the treatment, may not need medicines.
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Remission
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With treatment, you may experience remission. Remission is a period when you don\u2019t have any symptoms and your test results show that your liver is working better and is no longer being damaged. Many people with autoimmune hepatitis go into remission. If the first medicines doctors prescribe don\u2019t bring on remission, doctors may prescribe other medicines.
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ALT and AST levels falling to normal is a sign of remission. If you are in remission, your doctor may gradually lower the dose of medicines again to help reduce the medicines\u2019 side effects. After you stay in remission for at least 2 years, your doctor may try to stop your medicines to see if you remain in remission without them.4
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Your doctor will continue to perform routine blood tests for ALT and AST and monitor your symptoms while you are in remission to check for a relapse. Your doctor may suggest a repeat liver biopsy to monitor liver damage and guide management.
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Autoimmune hepatitis is often a long-term, if not lifelong, condition. Your doctor will need to watch your condition carefully, particularly when treatment is stopped, because the liver damage may return quickly and may be severe. Stopping treatment without your doctor\u2019s guidance and monitoring may be very dangerous.
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Relapse
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Some people with autoimmune hepatitis stay in remission without medicines. However, most people relapse after stopping medicines and need to start taking medicines again. When you relapse, blood tests show a rise in ALT and AST levels, and autoimmune hepatitis begins causing symptoms or damaging your liver again.
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If you relapse, your doctor will restart or adjust your medicines to treat autoimmune hepatitis.
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Incomplete or failed response to treatment
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Some people with autoimmune hepatitis have
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an incomplete response to treatment, meaning the treatment helped but did not lead to remission
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a failed response to treatment, meaning the inflammation and liver damage of autoimmune hepatitis keep getting worse despite treatment
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If you have an incomplete or failed response to treatment, your doctor may change the medicines you take to treat autoimmune hepatitis. If the disease continues to damage your liver, you may develop complications and need additional treatments.
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Do medicines used to treat autoimmune hepatitis have side effects?
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Medicines for autoimmune hepatitis can cause side effects. Your doctor will monitor any side effects and help you manage them while you take these medicines. Your doctor also may adjust the doses or change the medicines you take. You may need to stop taking medicines if you have severe side effects.
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\n Doctors treat autoimmune hepatitis with medicines that suppress your immune system. \n
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Side effects of corticosteroids may include
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changes in how you look, which may include weight gain, a fuller face, acne, or more facial hair
Corticosteroids and immunosuppressants suppress, or decrease the activity of, your immune system, which increases your risk for infections. These medicines can also increase your risk of developing cancers, especially skin cancers.
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Before you start taking medicines to treat autoimmune hepatitis, your doctor may
order tests to check for hepatitis B infection. In people with a current or past hepatitis B infection, medicines used to treat autoimmune hepatitis may cause hepatitis B reactivation. In some cases, doctors may recommend medicines to prevent hepatitis B reactivation.
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order a genetic test for thiopurine S-methyltransferase (TPMT) deficiency. When the TPMT enzyme doesn\u2019t work the way it should, people have a higher risk for serious side effects from certain immunosuppressants.
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How do doctors treat the complications of autoimmune hepatitis?
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If autoimmune hepatitis leads to cirrhosis, doctors can treat the related health problems and complications with medicines, medical procedures, or surgery.
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If you have cirrhosis, you have a greater chance of developing liver cancer. Your doctor may suggest blood tests and an ultrasound or another type of imaging test to check for liver cancer. Finding cancer at an early stage improves the chance of curing the cancer.
Using corticosteroids for a long time to treat autoimmune hepatitis can lead to a loss of bone density, called osteopenia, which can lead to osteoporosis. Doctors may recommend that people who take corticosteroids also take dietary supplements of calcium and vitamin D to help prevent osteoporosis. Follow your doctor\u2019s instructions on the type and dose of supplements you should take.
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Clinical Trials
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The NIDDK conducts and supports clinical trials in many diseases and conditions, including liver diseases. The trials look to find new ways to prevent, detect, or treat disease and improve quality of life.
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What are clinical trials for autoimmune hepatitis?
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Clinical trials\u2014and other types of clinical studies\u2014are part of medical research and involve people like you. When you volunteer to take part in a clinical study, you help doctors and researchers learn more about disease and improve health care for people in the future.
\n
Researchers are studying many aspects of autoimmune hepatitis, including new treatments, especially for people who don\u2019t respond to the current treatments.
Watch a video of NIDDK Director Dr. Griffin P. Rodgers explaining the importance of participating in clinical trials.
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What clinical studies for autoimmune hepatitis are looking for participants?
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You can find clinical studies on autoimmune hepatitis at www.ClinicalTrials.gov. In addition to searching for federally funded studies, you can expand or narrow your search to include clinical studies from industry, universities, and individuals; however, the National Institutes of Health does not review these studies and cannot ensure they are safe. Always talk with your health care provider before you participate in a clinical study.
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This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by NIDDK is carefully reviewed by NIDDK scientists and other experts.
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NIDDK would like to thank: Michele Tana, M.D., M.H.S., University of California, San Francisco
Biliary atresia is a condition in infants in which the bile ducts\u2014tubes inside and outside the liver\u2014are scarred and blocked. Bile ducts carry bile from the liver to the gallbladder for storage, and to the first part of the small intestine, also called the duodenum, for use in digestion. In infants with biliary atresia, bile can\u2019t flow into the intestine, so bile builds up in the liver and damages it. The damage leads to scarring, loss of liver tissue and function, and cirrhosis.
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Biliary atresia is life-threatening, but with treatment, most infants with biliary atresia survive to adulthood.
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Are there different types of biliary atresia?
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Doctors have identified different types of biliary atresia.
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Biliary atresia without birth defects
\n
In the most common type of biliary atresia, infants have no other major birth defects. Doctors may call this type of biliary atresia perinatal or isolated biliary atresia. A recent North American study found that 84 percent of infants with biliary atresia have this type.1
\n
Biliary atresia with birth defects
\n
Some infants have major birth defects\u2014including problems with the heart, spleen, or intestines\u2014along with biliary atresia. Doctors may call this fetal or embryonic biliary atresia. A recent North American study found that 16 percent of infants with biliary atresia have major birth defects.1
\n
How common is biliary atresia?
\n
Biliary atresia is rare and affects about 1 out of every 12,000 infants in the United States.2
\n
Who is more likely to have biliary atresia?
\n
Biliary atresia only occurs in newborn infants. The disease is slightly more common in female infants and in infants with Asian or African American heritage.3
\n
What are the complications of biliary atresia?
\n
Complications of biliary atresia include failure to thrive and malnutrition, cirrhosis and related complications, and liver failure.
\n
Without treatment, infants with biliary atresia would develop cirrhosis within 6 months and liver failure within 1 year.3,4 By age 2, untreated infants would need a liver transplant to survive.4
\n
Early treatment with a surgery called the Kasai procedure may slow or, in some cases, prevent the development of cirrhosis and liver failure. Even with treatment, about half of children with biliary atresia will need a liver transplant by age 2. Two-thirds will need a liver transplant sometime during childhood.3
\n
Malnutrition
\n
Even after treatment with the Kasai procedure, children with biliary atresia may have reduced bile flow to the small intestine and liver damage, leading to malnutrition and related problems with growth, such as failure to thrive. Read more about how biliary atresia affects nutrition.
\n
Cirrhosis and related complications
\n
Cirrhosis is a condition in which the liver breaks down and is unable to work normally. Scar tissue replaces healthy liver tissue, partly blocking the flow of blood through the liver. In the early stages of cirrhosis, the liver continues to work. As cirrhosis gets worse, the liver begins to fail.
Portal hypertension may lead to specific complications, including
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a buildup of fluid in the abdomen, called ascites. Infection of this fluid can be very dangerous.
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enlarged blood vessels, called varices, which can develop in the esophagus, stomach, or both. Varices can break open and cause life-threatening bleeding in the digestive tract.
\n
\n
Liver failure
\n
With liver failure, also called end-stage liver disease, the liver can no longer perform important functions or replace damaged cells. Infants and children with liver failure need a liver transplant to survive.
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References
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Symptoms & Causes
\n
What are the symptoms of biliary atresia?
\n
Typically, the first sign of biliary atresia is yellowing of the skin and whites of the eyes, called jaundice, which results from the buildup of bile in the body. Bile contains a reddish-yellow substance called bilirubin.
\n
Infants often have jaundice in the first 2 weeks of life, so it is not easy to identify biliary atresia in newborn infants. Jaundice that lasts beyond 3 weeks of age may be the first sign of biliary atresia. Infants with biliary atresia typically develop jaundice by 3 to 6 weeks of age.
\n
Infants with biliary atresia may also have pale yellow, gray, or white stools. Stools change color because bilirubin is not reaching the intestines and passing out of the body in the stool.
\n \n
What causes biliary atresia?
\n
Experts don\u2019t know what causes biliary atresia. Research suggests that infants develop biliary atresia in the womb or shortly after birth. Experts are trying to find out if one or more of the following factors could play a role in causing biliary atresia:
a problem during liver and bile duct development in the womb
\n
certain genes or changes in genes\u2014called mutations\u2014that may increase the chances of developing biliary atresia
\n
\n
Biliary atresia is not an inherited disease, meaning it does not pass from parent to child.
\n \n \n \n
Diagnosis
\n
How do doctors diagnose biliary atresia?
\n
To diagnose biliary atresia, a doctor will ask about your infant\u2019s medical and family history, perform a physical exam, and order a series of tests. Experts recommend testing for biliary atresia and other health problems in infants who still have jaundice 3 weeks after birth.
Doctors may refer children with suspected biliary atresia to specialists, such as pediatric gastroenterologists, pediatric hepatologists, or pediatric surgeons.
\n
Family and Medical history
\n
The doctor will ask about your infant\u2019s family and medical history. The doctor will also ask about symptoms such as jaundice and changes in stool color.
\n
Physical exam
\n
During a physical exam, the doctor may
\n
\n
examine the infant\u2019s body for signs of jaundice
\n
examine the infant\u2019s body for other birth defects that sometimes occur along with biliary atresia
\n
feel the infant\u2019s abdomen to check for an enlarged liver or spleen, which may be signs of biliary atresia
\n
check the color of the infant\u2019s stool and urine
\n
\n \n
What tests do doctors use to diagnose biliary atresia?
\n
Doctors may order some or all of the following tests to diagnose biliary atresia and rule out other health problems. Doctors may perform several tests because many other diseases can cause signs that are like the signs of biliary atresia.
\n
Blood tests
\n
A health care professional may take a blood sample from the infant and send the sample to a lab. Doctors may use blood tests to measure bilirubin levels and to check for signs of liver disease.
\n
Ultrasound
\n
Ultrasound uses a device called a transducer, which bounces safe, painless sound waves off organs to create images of their structure. Using ultrasound, doctors can rule out other health problems and look for signs that suggest an infant may have biliary atresia. However, an ultrasound cannot confirm a diagnosis of biliary atresia.
\n
Hepatobiliary scan
\n
A hepatobiliary scan is an imaging test that uses a small amount of safe radioactive material to create an image of the liver and bile ducts. The test can show if and where bile flow is blocked.
\n
Liver biopsy
\n
During a liver biopsy, a doctor will take pieces of tissue from the liver. A pathologist will examine the tissue under a microscope to look for signs of damage or disease. A liver biopsy can show whether an infant is likely to have biliary atresia. A biopsy can also help rule out or identify other liver problems.
\n
How do doctors perform surgery to confirm the diagnosis of biliary atresia?
\n
During diagnostic surgery, a pediatric surgeon makes a cut in the infant\u2019s abdomen to directly examine the liver and bile ducts. Alternatively, surgeons may use a device called a laparoscope, which is inserted through a small incision and does not require the abdomen to be opened. If the surgeon confirms that the infant has biliary atresia, the surgeon will usually perform surgery to treat biliary atresia right away.
\n \n \n \n
Treatment
\n
How do doctors treat biliary atresia?
\n
Doctors treat biliary atresia with a surgery called the Kasai procedure and eventually, in most cases, a liver transplant. Thanks to advances in treatment, more than 80 to 90 percent of infants with biliary atresia survive to adulthood.5,6
\n
The Kasai procedure
\n
The Kasai procedure is usually the first treatment for biliary atresia. The Kasai procedure does not cure biliary atresia. However, if the procedure is successful, it may slow liver damage and delay or prevent complications and the need for a liver transplant. The earlier the procedure is done, the more effective it may be.
\n
During the procedure, a surgeon removes the damaged bile ducts outside the liver. The surgeon uses a loop of the infant\u2019s own small intestine to replace the damaged bile ducts. If the surgery is successful, bile will flow directly from the liver to the small intestine. Within 3 months of the procedure, one has an idea of whether the surgery has worked or not. After a successful surgery, most infants no longer have jaundice and have a reduced risk of developing complications of advancing liver disease.
\n
Complications. After the procedure, a common complication is infection of the liver, called cholangitis. Doctors may prescribe antibiotics after surgery to help prevent this infection. If cholangitis occurs, doctors treat it with antibiotics, usually intravenous (IV) antibiotics given in the hospital.
\n
If the procedure is not successful, the flow of bile will remain blocked. After an unsuccessful procedure, infants will develop complications of biliary atresia and will usually need a liver transplant by age 2.5
\n
Even after a successful surgery, most children will slowly develop complications of biliary atresia, over years or decades, and will eventually need a liver transplant. In some cases, after a successful procedure, children never need a liver transplant.
\n
Liver transplant
\n
If biliary atresia leads to serious complications, the infant or child will need a liver transplant. A liver transplant is surgery to remove a diseased or injured liver and replace it with a healthy liver from another person, called a donor.
\n
Most children with biliary atresia eventually need a liver transplant, even after a successful Kasai procedure.
These problems may cause children with biliary atresia to become malnourished, and they may not grow normally.
\n
What should infants and children with biliary atresia eat?
\n
To make sure infants and children with biliary atresia get enough nutrients and calories, doctors may recommend
\n
\n
a special eating plan
\n
a special formula for formula-fed infants
\n
supplements, which may be added to breast milk, formula, or food
\n
\n \n
Supplements for biliary atresia include vitamins\u2014especially fat-soluble vitamins\u2014and medium-chain triglyceride (MCT) oil. MCT oil adds calories to foods and is easier to digest without bile than other fats. Doctors may recommend other types of supplements as well.
\n
If a child isn\u2019t getting enough nutrients from food and supplements taken by mouth, a doctor may recommend using a feeding tube, called a nasogastric feeding tube, to provide high-calorie liquid directly to the stomach. In some cases, children with biliary atresia need to receive nutrition through an intravenous (IV) line. This type of feeding is called total parenteral nutrition (TPN).
\n
Your child\u2019s doctor or a dietitian can recommend a specific eating plan and supplements for your child.
\n
What should infants and children eat after a liver transplant?
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and other components of the National Institutes of Health (NIH) conduct and support research into many diseases and conditions.
\n
What are clinical trials, and what role do children play in research?
\n
Clinical trials are research studies involving people of all ages. Clinical trials look at new ways to prevent, detect, or treat disease. Researchers also use clinical trials to look at other aspects of care, such as improving quality of life. Research involving children helps scientists
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\n
identify care that is best for a child
\n
find the best dose of medicines
\n
find treatments for conditions that only affect children
\n
treat conditions that behave differently in children
\n
understand how treatment affects a growing child\u2019s body
Watch a video of NIDDK Director Dr. Griffin P. Rodgers explaining the importance of participating in clinical trials.
\n
\n \n
\n
What clinical trials are open?
\n
Clinical trials that are currently open and are recruiting can be viewed at www.ClinicalTrials.gov.
\n \n \n
This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by NIDDK is carefully reviewed by NIDDK scientists and other experts.
\n
The NIDDK would like to thank: Benjamin L. Shneider, M.D., Baylor College of Medicine, Texas Children\u2019s Hospital
Cirrhosis is a condition in which the liver is scarred and permanently damaged. Scar tissue replaces healthy liver tissue and prevents the liver from working normally. Scar tissue also partly blocks the flow of blood through the liver. As cirrhosis gets worse, the liver begins to fail.
\n
Many people are not aware they have cirrhosis, because they may not have any signs or symptoms until their liver is badly damaged.
\n
\n A healthy liver (left) and a liver with cirrhosis (right). \n
\n
How common is cirrhosis?
\n
Researchers estimate that about 1 in 400 adults in the United States have cirrhosis.1 Researchers believe the actual numbers may be higher than that because many people with cirrhosis are not diagnosed. Many people with early stages of cirrhosis may not be diagnosed if they have few symptoms or do not feel ill.
\n
Who is more likely to develop cirrhosis?
\n
People are more likely to develop cirrhosis if they have health conditions that can cause cirrhosis. Cirrhosis is also more common in people who
As the liver fails, complications may develop. In some people, complications may be the first sign they have cirrhosis.
\n
Portal hypertension
\n
Portal hypertension is a serious problem caused by cirrhosis and can lead to some of the most common complications of cirrhosis. Portal hypertension occurs when scar tissue in the liver slows the normal flow of blood, which causes high blood pressure in the portal vein. The portal vein is the large blood vessel that carries blood from the stomach, intestines, spleen, gallbladder, and pancreas to the liver.
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When portal hypertension reaches a certain level, it can cause complications, such as
\n
\n
buildup of fluid in the abdomen or belly, called ascites. Ascites can lead to a serious infection\u2014called peritonitis \u2014in the space that surrounds the liver and intestines.
\n
swelling in the legs, ankles, or feet, called edema.
\n
enlarged veins\u2014called varices\u2014in the esophagus, stomach, or intestines. These varices can lead to internal bleeding if the veins burst.
\n
confusion or difficulty thinking caused by a buildup of toxins in the brain, called hepatic encephalopathy.
Cirrhosis increases the chance of getting liver cancer.3 Most people who develop liver cancer already have cirrhosis.
\n
Liver failure
\n
Cirrhosis may eventually lead to liver failure, also called end-stage liver disease. With liver failure, the liver is badly damaged and stops working. People with liver failure may require a liver transplant.
yellowish tint to the whites of the eyes and skin, called jaundice
\n
\n
What causes cirrhosis?
\n
Cirrhosis has different causes. Some people with cirrhosis have more than one cause of liver damage. For some people, the cause of cirrhosis is not known.
\n
Most common causes
\n
The most common causes of cirrhosis are
\n
\n
alcohol-associated liver disease, which is damage to the liver and its function from drinking too much alcohol
These health conditions don\u2019t affect every person in the same way. Some people with these health conditions may have more liver damage than others. Research suggests that certain inherited genes affect how much these conditions damage the liver.
chronic heart failure with liver congestion, a condition in which blood flow out of the liver is slowed
\n
\n \n \n \n
Diagnosis
\n
How do doctors diagnose cirrhosis?
\n
If your doctor suspects that you have cirrhosis, they may make a diagnosis based on your medical history, a physical exam, and the results of blood tests and imaging tests.
\n
Family and medical history
\n
\n Your doctor will ask if you have a history of alcohol use or health conditions that increase the risk of developing cirrhosis. \n
\n
Your doctor may ask about your symptoms and whether you have a history of health conditions that increase the risk of developing cirrhosis.
\n
When taking your medical history, your doctor may ask about
\n
\n
any recent changes in weight or appetite
\n
alcohol use
\n
prescription and over-the-counter medicines or herbal supplements you take
\n
\n
Your doctor may also ask if you have a family history of health conditions, including liver conditions.
\n
Physical exam
\n
In a physical exam, your doctor will
\n
\n
look for jaundice, or a yellowish tint to the whites of your eyes and skin
\n
check your skin for rashes and legs for swelling
\n
use a stethoscope to listen to your heart, lungs, and abdomen\u2014or belly
\n
tap or press on different areas of your abdomen to check for swelling or tenderness
\n Your doctor can use blood tests to tell how serious cirrhosis is. \n
\n
Your doctor may recommend the following blood tests
\n
\n
liver tests that can show if liver enzyme levels are higher or lower than normal, which may be a sign of liver damage. Your doctor may suspect cirrhosis if you have \n
\n
higher levels of the liver enzymes alanine aminotransferase (ALT), aspartate aminotransferase (AST), and alkaline phosphatase.
tests for autoimmune liver conditions, which include the anti-nuclear antibody (ANA), anti-smooth muscle antibody (SMA), and anti-mitochondrial antibody (AMA) tests.
\n
\n
Based on the blood test results, your doctor may be able to diagnose certain causes of cirrhosis.
\n
Your doctor can use blood tests to tell how serious cirrhosis is.
\n
Imaging tests
\n
Imaging tests can show the size, shape, and texture of the liver and show how much fat is in the liver. Some tests can also measure the stiffness of the liver. Cirrhosis increases liver stiffness. Your doctor may use one or more of the following imaging tests
\n
\n
ultrasound uses a hand-held device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure.
x-ray tests, such as computed tomography (CT) scans, use a combination of x-rays and computer technology to create images of the liver.
\n
elastography, a special test that measures the stiffness of the liver. An increase in liver stiffness may be a sign of fibrosis, or scarring. Your doctor can use stiffness measures to see if you may have cirrhosis and whether liver scarring is getting better or worse.
\n
\n
Liver biopsy
\n
Your doctor may perform a liver biopsy to see how much scarring is in your liver. A liver biopsy can diagnose cirrhosis when the results of other tests are uncertain. The biopsy may also help your doctor identify the cause of cirrhosis and determine whether you need treatment.
\n
During a liver biopsy, a doctor will use a needle to take small pieces of tissue from the liver. A pathologist will examine the tissue under a microscope.
Doctors do not have specific treatments that can cure cirrhosis and reverse damage to the liver. However, treating the causes of cirrhosis may prevent cirrhosis or slow the liver damage. Treating the complications of cirrhosis may keep them from getting worse and prevent liver failure.
\n
How do doctors treat the causes of cirrhosis?
\n
To treat the causes of cirrhosis, doctors often recommend lifestyle changes or prescribe medicines to prevent more liver damage. Doctors may recommend that people with cirrhosis stop activities, such as drinking alcohol and taking certain medicines, that may have caused cirrhosis or can make cirrhosis worse. For people who have cirrhosis and have overweight or obesity, doctors may recommend trying to lose weight.
\n
Treatment of alcohol-associated liver disease
\n
For people who have alcohol-associated liver disease, or damage to the liver and its function from drinking too much alcohol, doctors will recommend that they completely stop drinking alcohol and may refer them for alcohol treatment.
\n
Treatment of nonalcoholic fatty liver disease
\n
To treat nonalcoholic fatty liver disease (NAFLD), doctors may recommend weight loss. For people who have overweight or obesity and NAFLD, weight loss can help reduce fat in the liver, inflammation, and scarring. Some people with cirrhosis can lose weight through healthy meal planning and regular physical activity, and doctors sometimes recommend additional weight-loss treatments such as medicines or surgery.
\n
Treatment of chronic hepatitis C
\n
To treat a chronic, or long-term, infection of the hepatitis C virus, doctors may prescribe one or more antiviral medicines that attack the virus. Studies have shown that these medicines can cure more than 95% of people with chronic hepatitis C in 8 to 12 weeks.4
\n
Treatment of chronic hepatitis B
\n
To treat a chronic infection of the hepatitis B virus, doctors may prescribe antiviral medicines that slow or stop the virus from further damaging your liver.
Treatment of diseases that damage, destroy, or block bile ducts
\n
Doctors usually treat diseases that damage, destroy, or block bile ducts using medicines or medical procedures to open bile ducts that have become narrow or blocked. Diseases that damage, destroy, or block bile ducts include primary biliary cholangitis and primary sclerosing cholangitis.
\n
Treatment of inherited liver diseases
\n
Treatment of inherited liver diseases depends on the disease. Treatments may help prevent, improve, or manage symptoms and complications such as cirrhosis.
\n
Treatment of cirrhosis due to long-term use of certain medicines
\n
If taking certain medicines causes cirrhosis, the only treatment is usually to stop taking the medicines that caused the problem. Talk with your doctor before you stop taking any medicines.
\n
How do doctors treat the complications of cirrhosis?
A buildup of fluid in the abdomen, or belly, is called ascites. To treat ascites, doctors may prescribe medicines that remove fluid from the body. Doctors may also recommend that people with cirrhosis limit the amount of sodium they eat or drink. If large amounts of fluid build up in the abdomen, doctors may use a needle or tube to drain the fluid and check the fluid for signs of infection. Doctors may prescribe medicines to treat infection or prevent infection.
\n
Swelling in the legs, ankles, or feet
\n
To treat swelling in the legs, ankles, or feet\u2014called edema\u2014doctors may prescribe medicines that remove fluid from the body. Doctors may also recommend that people with cirrhosis limit how much sodium they eat or drink.
\n
Enlarged veins in the esophagus or stomach
\n
Enlarged veins in the esophagus or stomach are called varices. To treat varices, doctors may prescribe medicines to lower the blood pressure in the veins. Lowering the pressure in the veins reduces the chance that the veins will become enlarged and burst, causing internal bleeding. People who vomit blood or have black or bloody stools should go to a hospital right away. Doctors may perform procedures during an upper GI endoscopy or use surgical procedures to stop the bleeding.
\n
Buildup of toxins in the brain
\n
A buildup of toxins in the brain, called hepatic encephalopathy, can cause confusion, difficulty thinking, memory loss, personality changes, or sleep disorders. Doctors may prescribe medicines that help lower the levels of toxins in the brain and improve brain function.
If you have cirrhosis, your doctor may suggest blood tests and an ultrasound or another type of imaging test to check for liver cancer. Doctors may recommend checking for liver cancer every 6 months.5 Finding cancer at an early stage improves the chance of curing the cancer.
\n
For people who develop liver cancer, doctors may treat the cancer with medical procedures that remove or destroy cancer cells, such as surgery, radiation therapy, and chemotherapy. Doctors may also treat liver cancer with a liver transplant.
\n
Liver failure
\n
Liver failure, also called end-stage liver disease, happens when the liver stops working. The only treatment for liver failure is a liver transplant.
\n
Other complications
\n
Doctors may treat other complications through changes in medicines, diet, or physical activity. Doctors may also recommend surgery.
\n
What can I do to help keep my cirrhosis from getting worse?
\n
If you have cirrhosis, you can take steps to help keep cirrhosis from getting worse.
When do doctors consider a liver transplant for cirrhosis?
\n
\n Talk with your doctor about whether a liver transplant is right for you. \n
\n
Doctors will consider a liver transplant when cirrhosis leads to liver failure. Doctors consider liver transplants only after they have ruled out all other treatment options. A successful liver transplant can be a life-saving procedure for people with liver failure. Talk with your doctor about whether a liver transplant is right for you.
\n
References
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Eating, Diet, & Nutrition
\n
How does cirrhosis affect eating, diet, and nutrition?
\n
Cirrhosis can lead to malnutrition, meaning that your body is not getting the right amount of the vitamins, minerals, and other nutrients it needs to stay healthy. Research suggests that 50% to 90% of people with cirrhosis have malnutrition.6
\n
People with cirrhosis are at risk for malnutrition for several reasons. The symptoms of cirrhosis, such as nausea and vomiting, may cause people with cirrhosis to eat and drink less. Cirrhosis also affects how the liver works. When the liver isn\u2019t working well, the body may have problems digesting foods and drinks or absorbing nutrients.
\n
What should I eat or drink if I have cirrhosis?
\n
What you eat and drink is important. Your doctor may refer you to a registered dietitian to help create healthy meal plans that fit your nutrition needs.
\n
Meal plans will vary depending on how severe cirrhosis is and other factors. Health care professionals can recommend a meal plan that will provide the amount of calories and nutrients, especially protein, that your body needs. Health care professionals may recommend that people who do not get enough nutrients, or who have low levels of some vitamins and minerals, take certain dietary supplements. If you have cirrhosis, talk with your doctor before taking dietary supplements, including herbal supplements.
\n
Cirrhosis changes the way the body stores nutrients and uses them for energy. People with cirrhosis should avoid fasting, or going without food, for too long. Health care professionals may recommend7
\n
\n
having smaller, more frequent meals
\n
eating every 3 or 4 hours while awake
\n
having a snack before going to sleep at night or having an early breakfast after waking up
\n
\n
Ask your doctor about the cost of a registered dietitian\u2019s services. If you have health insurance, check your insurance company\u2019s website or call customer service to find out if they will pay for some or all of these services.
\n
What should I avoid eating and drinking if I have cirrhosis?
\n
Avoid eating raw or undercooked shellfish, fish, and meat, and unpasteurized milk and milk products. Bacteria or viruses from these foods may cause severe infections in people with cirrhosis.
\n
Your doctor may recommend limiting sodium in foods and drinks.
\n
You should completely stop drinking alcohol because it can cause more liver damage.
\n
References
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Clinical Trials
\n
NIDDK conducts and supports clinical trials in many diseases and conditions, including liver diseases. The trials look to find new ways to prevent, detect, or treat disease and improve quality of life.
\n
What are clinical trials for cirrhosis?
\n
Clinical trials\u2014and other types of clinical studies\u2014are part of medical research and involve people like you. When you volunteer to take part in a clinical study, you help doctors and researchers learn more about disease and improve health care for people in the future.
\n
Researchers are studying many aspects of cirrhosis, such as
\n
\n
new treatments to prevent cirrhosis from getting worse
\n
new ways to prevent liver cancer in people with cirrhosis
Watch a video of NIDDK Director Dr. Griffin P. Rodgers explaining the importance of participating in clinical trials.
\n
\n \n
\n
What clinical studies for cirrhosis are looking for participants?
\n
You can view a filtered list of clinical studies on cirrhosis that are federally funded, open, and recruiting at www.ClinicalTrials.gov. You can expand or narrow the list to include clinical studies from industry, universities, and individuals; however, NIH does not review these studies and cannot ensure they are safe. Always talk with your health care provider before you participate in a clinical study.
\n
What have we learned about cirrhosis from NIDDK-funded research?
\n
NIDDK has supported many research projects to learn more about cirrhosis causes, complications, and treatments. Recent examples of research projects include the Liver Cirrhosis Network (LCN), funded by NIDDK, the National Cancer Institute, and the National Institute on Alcohol Abuse and Alcoholism. The network is conducting research to better understand factors that increase the risk of developing cirrhosis complications. LCN will also study treatments that may improve the health of people with cirrhosis. NIDDK also funds the Nonalcoholic Steatohepatitis Clinical Research Network (NASH CRN) and its research on nonalcoholic steatohepatitis (NASH), a liver disease that can cause cirrhosis. NASH CRN has conducted studies to learn more about the causes, development, complications, and treatment of NASH in children and adults.
\n \n \n
This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by NIDDK is carefully reviewed by NIDDK scientists and other experts.
\n
NIDDK would like to thank: Bilal Hameed, M.B.B.S., University of California, San Francisco
Hemochromatosis is a disorder in which extra iron builds up in the body to harmful levels.
\n
Your body needs iron to stay healthy, make red blood cells, build muscle and heart cells, and do the daily tasks that your body and internal organs need to do. However, too much iron is harmful.
\n
The human body typically controls the amount of iron that is absorbed from the diet, increasing the amount when iron is needed and decreasing the amount when iron levels in the body are too high. In hemochromatosis, the body absorbs too much iron from the diet each day.
\n
Without treatment, hemochromatosis can cause iron overload, a buildup of iron that can damage many parts of the body, including the liver, heart, pancreas, endocrine glands, and joints.
\n
Are there different types of hemochromatosis?
\n
Primary hemochromatosis, also called hereditary or inherited hemochromatosis, is caused by inherited mutations in genes that control how much iron is absorbed from the diet.
\n
Secondary hemochromatosis, also called secondary iron overload or hemosiderosis, is caused by too much iron in the diet or too much iron from blood transfusions, such as transfusions that treat severe anemia.
\n
Neonatal hemochromatosis is a very rare condition caused by injury to the liver of a fetus in the womb. This liver injury causes extra iron to build up in the liver and other organs.
\n
How common is hemochromatosis?
\n
The most common forms of hemochromatosis are due to mutations in a gene called HFE. The HFE mutation that most commonly causes hemochromatosis is called C282Y. Another HFE mutation that may lead to iron overload is called H63D. People with two copies of C282Y are most likely to have iron overload. People with one copy of H63D and one copy of C282Y may also have iron overload, but this is less common and usually less severe.
\n
About 1 in 15 people of Northern European ancestry have at least one copy of the C282Y mutation in the HFE gene.1 This means that about 1 in 225 people in this population have two copies of the gene and are at risk of developing hemochromatosis.2 Primary hemochromatosis is much less common in people of Asian or African ancestry because the C282Y gene mutation is far less common in these populations.
\n
Who is more likely to have hemochromatosis?
\n
Caucasians are more likely than other groups to have hemochromatosis because the C282Y gene mutation is most common in this population.
\n
Men and women are just as likely to have C282Y mutations, but men are more likely to develop iron overload and the symptoms and complications of hemochromatosis. In people with these mutations, it can take many decades for iron to build up to harmful levels. Symptoms do not typically develop before age 40.3 On average, women develop symptoms about 10 years later than men do, usually after menopause.4 The differences between men and women are due to menstruation, which leads to blood loss and reduces iron levels in women.
\n
Among people with the C282Y mutations, lifestyle factors and health problems can also increase the risk of severe iron overload and symptoms and complications of hemochromatosis. These include
\n
\n
other chronic liver diseases, particularly chronic hepatitis C
Without treatment, hemochromatosis may lead to iron overload and complications in your liver and other parts of your body.
\n
Cirrhosis
\n
In cirrhosis, scar tissue replaces healthy liver tissue and prevents your liver from working normally. Scar tissue also partly blocks the flow of blood through the liver. As cirrhosis gets worse, the liver begins to fail.
\n
Liver failure
\n
Cirrhosis may eventually lead to liver failure, also called end-stage liver disease. With liver failure, your liver is badly damaged and stops working. People with liver failure may require a liver transplant.
\n
Liver cancer
\n
Cirrhosis increases your chance of getting liver cancer. Your doctor may suggest blood tests and an ultrasound or another type of imaging test to check for liver cancer. Finding cancer at an early stage improves the chance of curing the cancer.
\n
Other complications
\n
In addition to harming the liver, iron overload can damage other parts of the body, including the joints, pancreas, heart, and sex glands. This damage can lead to
Not everyone with hemochromatosis has symptoms, and hemochromatosis may not cause symptoms for many years. Symptoms typically begin after age 40, and, on average, women develop symptoms about 10 years later than men do.5,6
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What causes hemochromatosis?
\n
Primary hemochromatosis
\n
Mutations in genes that control how the body absorbs iron cause primary hemochromatosis. The most common mutations are in the HFE genes and are called C282Y and H63D.
\n
The important HFE mutations are autosomal recessive, meaning that a person must inherit two copies of the HFE gene with the mutation to have hemochromatosis. The most common pattern in primary hemochromatosis occurs with two copies of C282Y. Two copies of C282Y are present in about 85 to 90 percent of cases of primary hemochromatosis.6 A less common pattern that leads to milder iron overload is caused by having one copy of C282Y and one of H63D.
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Mutations in other genes that control how the body manages iron levels cause 10 to 15 percent of cases of primary hemochromatosis.3 These rare forms are called non-HFE hemochromatosis. The most severe forms of non-HFE hemochromatosis are due to mutations in the HJV genes or the HAMP genes. People with these mutations develop symptoms and complications at a young age and may have cirrhosis and other complications from iron overload by their teenage years.
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Secondary hemochromatosis
\n
Secondary hemochromatosis is caused by excessive iron in the diet or from multiple blood transfusions.
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The usual cause of secondary hemochromatosis is blood transfusions given for severe types of anemia, such as sickle cell disease or thalassemias. In addition, people with bone marrow failure and severe anemia may require regular blood transfusions given over months or years. Red blood cells are a rich source of iron, and red blood cells given by transfusions can lead to a buildup of iron to high levels. The body does not have a good way to get rid of iron.
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In the past, iron overload was a common problem in people with kidney failure. However, the use of erythropoietin (EPO) to treat anemia in chronic kidney disease in people with kidney failure has lessened the chance of iron overload. EPO helps the body make red blood cells, lowering levels of stored iron and reducing the need for blood transfusions.
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Iron overload in the liver also occurs in persons with severe liver disease such as cirrhosis due to alcoholic liver disease or advanced forms of chronic hepatitis B or C. In these situations, the level of iron is high enough to worsen the underlying liver disease.
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Iron overload from excess iron in the diet is very rare but can be caused by cooking and brewing alcohol in crude iron pots or skillets. Drinking alcohol in this situation leads to an increase in the absorption of iron and can cause serious iron overload in the liver.
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Neonatal hemochromatosis
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Neonatal hemochromatosis is a very rare disease that leads to cirrhosis and liver failure in newborns. In most cases, neonatal hemochromatosis occurs when a pregnant woman\u2019s immune system produces antibodies that damage the liver of a fetus, causing iron overload.
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A woman who has one child with neonatal hemochromatosis is at risk for having a second or third affected newborn. Doctors can treat women during future pregnancies to help prevent neonatal hemochromatosis.
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References
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Diagnosis
\n
How do doctors diagnose hemochromatosis?
\n
Doctors usually diagnose hemochromatosis based on blood test results. Doctors may first suspect hemochromatosis based on a medical and family history, a physical exam, and blood tests.
\n
Medical and family history
\n
Doctors ask about medical history, including
\n
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symptoms of hemochromatosis, such as feeling tired or weak or pain in the joints
What tests do doctors use to diagnose hemochromatosis?
\n
Blood tests are critical for the diagnosis of hemochromatosis. In some cases, doctors may also order a liver biopsy.
\n
Blood tests
\n
For a blood test, a health care professional will take a blood sample from you and send the sample to a lab. Doctors may order blood tests to check
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levels of iron
\n
levels of transferrin, the protein that carries iron in the blood
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the ratio of iron to transferrin
\n
levels of ferritin, the protein that stores iron in the liver
\n
\n
A high ratio of iron to transferrin in the blood may suggest a person has hemochromatosis. A high ferritin level is also typical in people who have hemochromatosis. Doctors may also use blood tests for ferritin levels to see if iron levels are improving with treatment.
\n
Doctors usually order blood tests to check for the gene mutations that cause hemochromatosis. Finding two copies of the HFE gene with the C282Y mutation confirms the diagnosis of primary hemochromatosis.
\n \n
Liver biopsy
\n
In some cases, doctors will use a liver biopsy to confirm that iron overload is present and that no other liver diseases are present. The liver biopsy also shows whether iron overload has caused scarring or permanent damage to the liver.
\n
During a liver biopsy, a doctor will take small pieces of tissue from the liver. A pathologist will examine the tissue with a microscope. The biopsy can be stained for iron, which will show whether too much iron appears to be present. The biopsy can also be used to measure the actual amount of iron in the liver.
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Treatment
\n
How do doctors treat hemochromatosis?
\n
In most cases, doctors treat hemochromatosis with phlebotomy, or drawing about a pint of blood at a time, on a regular schedule. This is the most direct and safe way to lower body stores of iron.
Phlebotomy removes extra iron from your blood. Phlebotomy is simple, inexpensive, and safe.
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How much blood is drawn and how often depends on your iron levels. Doctors usually start by having a pint of blood drawn once or twice a week for several months. Doctors will order regular blood tests to check iron and ferritin levels.
\n
Phlebotomy is usually done in blood banks just like routine blood donation. In some cases, blood drawn from people with hemochromatosis may be donated and used in people who need blood transfusions.
\n
After phlebotomy has removed extra iron and blood levels of iron and ferritin return to normal, doctors will reduce phlebotomies to once every 1 to 3 months and eventually to 2 to 3 times a year. Doctors will continue to order regular blood tests to check iron and ferritin levels.
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Other treatments
\n
People who receive blood transfusions to treat certain types of anemia and develop secondary hemochromatosis cannot have phlebotomy to lower their iron levels. To treat secondary hemochromatosis in these people, doctors prescribe medicines, called chelating agents, that bind to iron and allow it to pass from the body in urine. Chelating agents may be pills taken by mouth or intravenous (IV) medicines, and they do not remove iron as effectively as phlebotomy.
\n
Doctors treat neonatal hemochromatosis in newborns with exchange transfusions\u2014removing blood and replacing it with donor blood\u2014and IV immunoglobulin\u2014a solution of antibodies from healthy people. These treatments do not always work to reverse severe liver damage, and a liver transplant may be needed. Often the newborn\u2019s mother or father can serve as a living liver donor. Only a small part of the adult donor liver is needed for transplantation into a newborn.
\n
How do doctors treat the complications of hemochromatosis?
\n
Phlebotomy can prevent the complications of hemochromatosis. For people who already have complications such as cirrhosis, liver failure, or liver cancer when they are diagnosed with hemochromatosis, phlebotomy may not be able to restore health.
\n
Doctors can treat many complications of cirrhosis with medicines, minor medical procedures, and surgery. People with liver failure or liver cancer usually need a liver transplant to restore health.
\n
Can I prevent hemochromatosis?
\n
You can\u2019t prevent inheriting the gene mutations that cause primary hemochromatosis. However, early diagnosis is important since early treatment with phlebotomy can prevent complications of iron overload caused by these gene mutations.
\n
If you have a close relative\u2014a parent, brother or sister, or child\u2014with hemochromatosis, you should be checked for hemochromatosis. Talk with your doctor about testing you and your family members.
\n
Secondary hemochromatosis due to blood transfusion cannot be prevented easily. However, doctors can check iron levels and start treatment with chelating agents early, before iron overload causes damage to the liver, joints, and other organs.
\n
If doctors know a pregnant woman is at risk for having an infant with neonatal hemochromatosis due to a family history of the condition, doctors can treat the pregnant woman with IV immunoglobulin to lower the chance that the newborn will have severe iron overload.
supplements that contain vitamin C, which can increase the body\u2019s absorption of iron
\n
\n
Talk with your doctor before using dietary supplements, such as vitamins, or any complementary or alternative medicines, such as herbal or botanical medicines. Dietary and herbal supplements are usually safe, but some may contain high levels of iron or unsafe chemical or herbal products.
\n
If you have hemochromatosis and don\u2019t have cirrhosis, your doctor may recommend limiting the amount of alcohol you drink to help prevent liver damage. If you have cirrhosis, you should stop drinking alcohol completely.
\n
Most people with hemochromatosis do not need to change their diet to eat less iron. Diet changes have a relatively small effect on iron levels, compared to the much larger effect of removing iron during phlebotomy treatment.
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Clinical Trials
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The NIDDK conducts and supports clinical trials in many diseases and conditions, including liver diseases. The trials look to find new ways to prevent, detect, or treat disease and improve quality of life.
\n
What are clinical trials for hemochromatosis?
\n
Clinical trials\u2014and other types of clinical studies\u2014are part of medical research and involve people like you. When you volunteer to take part in a clinical study, you help doctors and researchers learn more about disease and improve health care for people in the future.
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Researchers are conducting clinical studies to better understand liver diseases, such as hemochromatosis.
What clinical studies for hemochromatosis are looking for participants?
\n
You can view a filtered list of clinical studies on hemochromatosis that are federally funded, open, and recruiting at www.ClinicalTrials.gov. You can expand or narrow the list to include clinical studies from industry, universities, and individuals; however, the NIH does not review these studies and cannot ensure they are safe. Always talk with your health care provider before you participate in a clinical study.
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How has NIDDK- and NIH-funded research advanced the understanding of hemochromatosis?
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The NIDDK and other components of the NIH, such as the National Heart, Lung, and Blood Institute (NHLBI), support basic research to increase our understanding of hemochromatosis and lay the foundation for future advances in diagnosis and treatment. For example
\n
\n
NIDDK-funded researchers were among the group of investigators who discovered that mutations of the HFE gene cause hemochromatosis
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NIDDK-funded researchers discovered iron transporters in the small intestine
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the NHLBI-funded Hemochromatosis and Iron Overload Screening Study (HEIRS) examined the prevalence, genetic and environmental causes, and the effect of iron overload and primary hemochromatosis in a group of about 100,000 adults from multiple ethnic backgrounds
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This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by NIDDK is carefully reviewed by NIDDK scientists and other experts.
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The NIDDK would like to thank: Adrian M. Di Bisceglie, M.D., Saint Louis University School of Medicine
Viral hepatitis is an infection that causes liver inflammation and damage. Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflammation can damage organs. Researchers have discovered several different viruses that cause hepatitis, including hepatitis A, B, C, D, and E.
\n
Hepatitis A and hepatitis E typically spread through contact with food or water that has been contaminated by an infected person\u2019s stool. People may also get hepatitis E by eating undercooked pork, deer, or shellfish.
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Hepatitis B, hepatitis C, and hepatitis D spread through contact with an infected person\u2019s blood. Hepatitis B and D may also spread through contact with other body fluids. This contact can occur in many ways, including sharing drug needles or having unprotected sex.
\n
The hepatitis A and E viruses typically cause only acute, or short-term, infections. In an acute infection, your body is able to fight off the infection and the virus goes away.
\n
The hepatitis B, C, and D viruses can cause acute and chronic, or long-lasting, infections. Chronic hepatitis occurs when your body isn\u2019t able to fight off the hepatitis virus and the virus does not go away. Chronic hepatitis can lead to complications such as cirrhosis, liver failure, and liver cancer. Early diagnosis and treatment of chronic hepatitis can prevent or lower your chances of developing these complications.
\n
When doctors can\u2019t find the cause of a person\u2019s hepatitis, they may call this condition non-A\u2013E hepatitis or hepatitis X. Experts think that unknown viruses other than hepatitis A, B, C, D, and E may cause some cases of hepatitis. Researchers are working to identify these viruses.
\n
Although non-A\u2013E hepatitis is most often acute, it can become chronic.
Hepatitis A is a viral infection that causes liver inflammation and damage. Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflammation can damage organs.
\n
Viruses invade normal cells in your body. Many viruses cause infections that can be spread from person to person. The hepatitis A virus typically spreads through contact with food or water that has been contaminated by an infected person\u2019s stool.
\n
Hepatitis A is an acute or short-term infection, which means people usually get better without treatment after a few weeks. In rare cases, hepatitis A can be severe and lead to liver failure and the need for an emergency liver transplant to survive. Hepatitis A does not lead to long-term complications, such as cirrhosis, because the infection only lasts a short time.
In the United States, hepatitis A has become relatively uncommon. After the hepatitis A vaccine became available in 1995, the rate of hepatitis A infections declined by 95 percent in the United States. The number of reported cases of hepatitis A fell to 1,239 in 2014, the lowest yearly number of cases reported since the disease could be tracked.1 However, the number of reported cases increased to 3,366 in 2017, almost 3 times higher, mostly due to outbreaks among people who use drugs and people experiencing homelessness.1 Early reports suggest that the numbers of cases and outbreaks of hepatitis A increased further during 2018 and continue at these higher rates in 2019.2
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Hepatitis A is more common in developing countries where sanitation is poor and access to clean water is limited. Hepatitis A is more common in parts of Africa, Asia, Central and South America, and Eastern Europe than it is in the United States.
\n
Who is more likely to get hepatitis A?
\n
People more likely to get hepatitis A are those who
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\n
travel to developing countries
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have sex with an infected person
\n
are men who have sex with men
\n
use illegal drugs, including drugs that are not injected
\n
experience unstable housing or homelessness
\n
live with or care for someone who has hepatitis A
\n
live with or care for a child recently adopted from a country where hepatitis A is common
\n
\n \n
What are the complications of hepatitis A?
\n
People typically recover from hepatitis A without complications. In rare cases, hepatitis A may lead to liver failure. Liver failure due to hepatitis A is more common in adults older than age 50 and in people who have another liver disease.3
\n
What are the symptoms of hepatitis A?
\n
Some people have symptoms 2 to 7 weeks after they come in contact with the virus.3 People with hepatitis A typically get better without treatment after a few weeks. In some cases, symptoms can last up to 6 months. These symptoms may include
Some people infected with hepatitis A have no symptoms, including many children younger than age 6.3 Older children and adults are more likely to have symptoms.
\n
What causes hepatitis A?
\n
The hepatitis A virus causes this type of hepatitis and spreads through contact with an infected person\u2019s stool. Contact can occur by
\n
\n
eating food made by an infected person who did not wash his or her hands after using the bathroom
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drinking untreated water or eating food washed in untreated water
\n
placing a finger or an object in your mouth that came into contact with an infected person\u2019s stool
\n
having close personal contact with an infected person, such as through sex or caring for someone who is ill
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You cannot get hepatitis A from
\n
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being coughed on or sneezed on by an infected person
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sitting next to an infected person
\n
hugging an infected person
\n
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A baby cannot get hepatitis A from breast milk.4
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How do doctors diagnose hepatitis A?
\n
Doctors diagnose hepatitis A based on symptoms and a blood test. A health care professional will take a blood sample from you and send the sample to a lab. A blood test will detect antibodies to the hepatitis A virus called immunoglobulin M (IgM) antibodies and show whether you have acute hepatitis A. If the blood test finds antibodies to the hepatitis A virus that are not IgM antibodies, then you are immune to hepatitis A, due to either past hepatitis A infection or hepatitis A vaccination.
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How do doctors treat hepatitis A?
\n
Treatment includes resting, drinking plenty of liquids, and eating healthy foods to help relieve symptoms. Your doctor may also suggest medicines to help relieve symptoms.
\n
Talk with your doctor before taking any prescription or over-the-counter medicines, vitamins or other dietary supplements, or complementary or alternative medicines\u2014any of these could damage your liver. You should avoid alcohol until your doctor tells you that you have completely recovered from hepatitis A.
\n
See your doctor regularly to make sure your body has fully recovered. If you have symptoms for longer than 6 months, see your doctor again.
\n
How can I protect myself from hepatitis A infection?
\n
You can protect yourself from hepatitis A by getting the hepatitis A vaccine. If you have not had the vaccine, you can take steps to reduce your chance of infection.
\n
If you have had hepatitis A in the past, you cannot get hepatitis A again. You can still get other types of viral hepatitis though.
Doctors give the hepatitis A vaccine in two shots. You should get the second shot 6 to 12 months after the first shot. You need to get both shots to be fully protected against the virus.
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If you are traveling to a developing country where hepatitis A is common and you haven\u2019t received the hepatitis A vaccine, talk with your doctor about how to prevent getting hepatitis A. If possible, try to get both shots of the hepatitis A vaccine before you go. If you don\u2019t have time to get both shots, get the first shot as soon as you can. Most people gain some protection within 2 weeks of the first shot.
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Reduce your chance of infection
\n
You can reduce your chance of getting hepatitis A by washing your hands thoroughly with soap and warm water for 15 to 30 seconds
\n
\n
after using the toilet
\n
after changing diapers
\n
before and after handling or preparing food
\n
\n
When traveling in a developing country, drink bottled water. Use bottled water to brush your teeth, make ice cubes, and wash fruits and vegetables.
\n \n
Prevent infection after contact with the virus
\n
If you think you have come in contact with the hepatitis A virus, see your doctor right away. A dose of the hepatitis A vaccine or a medicine called hepatitis A immune globulin may protect you from getting the infection. Your doctor may recommend a vaccine dose or medicine if
\n
\n
you live with, have had sex with, or have had close contact with someone who has hepatitis A
\n
you shared illegal drugs with someone who had hepatitis A
\n
you ate food or drank water possibly containing the hepatitis A virus
\n
\n
You must get the vaccine dose or medicine shortly after coming into contact with the virus to prevent infection.
\n
How can I prevent spreading hepatitis A to others?
\n
If you have hepatitis A, you can reduce your chance of spreading the infection by washing your hands with warm, soapy water after using the toilet and before fixing or eating food. While you are sick, avoid close contact with others, and don\u2019t prepare food or serve food to others. Also, tell your doctor, dentist, and other health care professionals that you have hepatitis A.
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Talk with a blood donation center before you donate blood. If you had hepatitis A when you were younger than 11, you may be able to donate blood. If you had hepatitis A when you were age 11 or older, you should not donate blood.
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You are most contagious\u2014able to spread the virus to others\u2014during the 2 weeks before you have symptoms. You may be contagious for up to 3 weeks after you develop symptoms. Children are often contagious longer than adults.5
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What should I eat and drink if I have hepatitis A?
\n
If you have hepatitis A, you should eat a balanced, healthy diet. Talk with your doctor about healthy eating. You should also avoid alcohol because it can cause more liver damage.
Hepatitis B is a viral infection that causes liver inflammation and damage. Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflammation can damage organs.
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Viruses invade normal cells in your body. Many viruses cause infections that can spread from person to person. The hepatitis B virus spreads through contact with an infected person\u2019s blood, semen, or other body fluids.
The hepatitis B virus can cause an acute or chronic infection.
\n
Acute hepatitis B
\n
Acute hepatitis B is a short-term infection. Some people have symptoms, which may last several weeks. In some cases, symptoms last up to 6 months. Sometimes the body is able to fight off the infection and the virus goes away. If the body isn\u2019t able to fight off the virus, the virus does not go away, and chronic hepatitis B infection occurs.
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Most healthy adults and children older than 5 years who have hepatitis B get better and do not develop a chronic hepatitis B infection.6
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Chronic hepatitis B
\n
Chronic hepatitis B is a long-lasting infection. Your chance of developing chronic hepatitis B is greater if you were infected with the virus as a young child. About 90 percent of infants infected with hepatitis B develop a chronic infection. About 25 to 50 percent of children infected between the ages of 1 and 5 years develop chronic infections. However, only about 5 percent of people first infected as adults develop chronic hepatitis B.6
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How common is hepatitis B?
\n
Hepatitis B worldwide
\n
Hepatitis B infection is more common in some other parts of the world than it is in the United States. Though less than 0.5 percent of the U.S. population has hepatitis B, 2 percent or more of the population is infected in areas such as Africa, Asia, and parts of the Middle East, Eastern Europe, and South America.7,8,9
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Hepatitis B infection has been especially common in some parts of the world, such as sub-Saharan Africa and parts of Asia, where 8 percent or more of the population was infected.9 In some of these areas, Hepatitis B infection rates are now lower than they were, but infection rates are still higher in these areas than in the United States.8,9
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Hepatitis B in the United States
\n
In the United States, about 862,000 people have chronic hepatitis B.6 Asian Americans and African Americans have higher rates of chronic hepatitis B than other U.S. racial and ethnic groups.10 Researchers estimate that about half of the people living with chronic hepatitis B in the United States are Asian Americans and Pacific Islanders.11 Chronic hepatitis B is also more common among people born in other countries than among those born in the United States.7
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The hepatitis B vaccine has been available since the 1980s and, in 1991, doctors began recommending that children in the United States receive the hepatitis B vaccine. The annual rate of acute hepatitis B infections went down 88.5 percent between 1982 and 2015.12 In 2017, the annual number of hepatitis B infections rose in some states.13 Experts think the rise was related to increases in injection drug use. Injection drug use increases the risk of hepatitis B infection.
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Who is more likely to get hepatitis B?
\n
People are more likely to get hepatitis B if they are born to a mother who has hepatitis B. The virus can spread from mother to child during birth. For this reason, people are more likely to have hepatitis B if they
\n
\n
were born in a part of the world where 2 percent or more of the population has hepatitis B infection
\n
were born in the United States, didn\u2019t receive the hepatitis B vaccine as an infant, and have parents who were born in an area where 8 percent or more of the population had hepatitis B infection
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People are also more likely to have hepatitis B if they
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are infected with HIV, because hepatitis B and HIV spread in similar ways
\n
have lived with or had sex with someone who has hepatitis B
In the United States, hepatitis B spreads among adults mainly through contact with infected blood through the skin, such as during injection drug use, and through sexual contact.12
\n
Should I be screened for hepatitis B?
\n
Screening is testing for a disease in people who have no symptoms. Doctors use blood tests to screen for hepatitis B. Many people who have hepatitis B don\u2019t have symptoms and don\u2019t know they are infected with hepatitis B. Screening tests can help doctors diagnose and treat hepatitis B, which can lower your chances of developing serious health problems.
\n
Your doctor may recommend screening for hepatitis B if you9,14
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\n
are pregnant
\n
were born in an area of the world where 2 percent or more of the population has hepatitis B infection, which includes Africa, Asia, and parts of the Middle East, Eastern Europe, and South America
\n
didn\u2019t receive the hepatitis B vaccine as an infant and have parents who were born in an area where 8 percent or more of the population had hepatitis B infection, which includes sub-Saharan Africa and parts of Asia
\n
are HIV-positive
\n
have injected drugs
\n
are a man who has sex with men
\n
have lived with or had sex with a person who has hepatitis B
\n
have an increased chance of infection due to other factors
\n
\n \n
What are the complications of hepatitis B?
\n
Hepatitis B may lead to serious complications. Early diagnosis and treatment can lower your chances of getting complications.
\n
Acute hepatitis B complications
\n
In rare cases, acute hepatitis B can lead to acute liver failure, a condition in which the liver fails suddenly. People with acute liver failure may require a liver transplant.
\n
Chronic hepatitis B complications
\n
Chronic hepatitis B can lead to
\n
\n
cirrhosis, a condition in which scar tissue replaces healthy liver tissue and prevents your liver from working normally. Scar tissue also partly blocks the flow of blood through the liver. As cirrhosis gets worse, the liver begins to fail.
\n
liver failure, in which your liver is badly damaged and stops working. Liver failure is also called end-stage liver disease. People with liver failure may require a liver transplant.
\n
liver cancer. Your doctor may suggest blood tests and an ultrasound or another type of imaging test to check for liver cancer. Finding cancer at an early stage improves the chance of curing the cancer.
\n
\n
Reactivated hepatitis B
\n
In people who have ever had hepatitis B, the virus may become active again, or reactivated, later in life. When hepatitis B is reactivated, it may start to damage the liver and cause symptoms. Reactivated hepatitis B can lead to acute liver failure.
\n
People at risk for reactivated hepatitis B include those who
\n
\n
take medicines that reduce the activity of the immune system, such as \n
Infants and children younger than age 5 typically don\u2019t have symptoms of acute hepatitis B. Older children and adults are more likely to have symptoms.6
\n
If you have chronic hepatitis B, you may not have symptoms until complications develop, which could be decades after you were infected. For this reason, hepatitis B screening is important, even if you have no symptoms.
\n
What causes hepatitis B?
\n
The hepatitis B virus causes hepatitis B. The hepatitis B virus spreads through contact with an infected person\u2019s blood, semen, or other body fluids. Contact can occur by
\n
\n
being born to a mother with hepatitis B
\n
having unprotected sex with an infected person
\n
sharing drug needles or other drug materials with an infected person
\n
getting an accidental stick with a needle that was used on an infected person
\n
being tattooed or pierced with tools that were used on an infected person and weren\u2019t properly sterilized, or cleaned in a way that destroys all viruses and other microbes
\n
having contact with the blood or open sores of an infected person
\n
using an infected person\u2019s razor, toothbrush, or nail clippers
\n
\n
You can\u2019t get hepatitis B from
\n
\n
being coughed on or sneezed on by an infected person
\n
drinking unclean water or untreated water that has not been boiled
\n
eating food that is unclean or has not been properly cooked
\n
hugging an infected person
\n
shaking hands or holding hands with an infected person
\n
sharing spoons, forks, and other eating utensils
\n
sitting next to an infected person
\n
\n
Mothers who have hepatitis B can safely breastfeed their babies. If a baby receives hepatitis B immune globulin (HBIG) and starts receiving the hepatitis B vaccine to prevent hepatitis B infection shortly after birth, hepatitis B is unlikely to spread from mother to child through breastfeeding.15
\n
How do doctors diagnose hepatitis B?
\n
Doctors diagnose hepatitis B based on your medical and family history, a physical exam, and blood tests. If you have hepatitis B, your doctor may perform additional tests to check your liver.
\n
Medical and family history
\n
Your doctor will ask about your symptoms and about factors that may make you more likely to get hepatitis B. Your doctor may ask whether you have a family history of hepatitis B or liver cancer. Your doctor may also ask about other factors that could damage your liver, such as drinking alcohol.
\n
Physical exam
\n
During a physical exam, your doctor will check for signs of liver damage such as
\n
\n
changes in skin color
\n
swelling in your lower legs, feet, or ankles
\n
tenderness or swelling in your abdomen
\n
\n
What tests do doctors use to diagnose hepatitis B?
\n
Doctors use blood tests to diagnose hepatitis B. Your doctor may order additional tests to check for liver damage, find out how much liver damage you have, or rule out other causes of liver disease.
\n
Blood tests
\n
Your doctor may order one or more blood tests to diagnose hepatitis B. A health care professional will take a blood sample from you and send the sample to a lab.
\n
Certain blood tests can show whether you are infected with hepatitis B. If you are infected, your doctor may use other blood tests to find out
\n
\n
whether the infection is acute or chronic
\n
whether you have an increased chance of liver damage
\n
whether the virus levels in your body are high or low
\n
whether you need treatment
\n
\n
If you have chronic hepatitis B, your doctor will recommend testing your blood regularly because chronic hepatitis B can change over time. Even if the infection is not damaging your liver when you are first diagnosed, it may damage your liver in the future. Your doctor will use regular blood tests to check for signs of liver damage, find out if you need treatment, or see how you are responding to treatment.
\n
Blood tests can also show whether you are immune to hepatitis B, meaning you can\u2019t get hepatitis B. You may be immune if you got a vaccine or if you had an acute hepatitis B infection in the past and your body fought off the infection.
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Additional tests
\n
If you\u2019ve had chronic hepatitis B a long time, you could have liver damage. Your doctor may recommend additional tests to find out whether you have liver damage, how much liver damage you have, or to rule out other causes of liver disease. These tests may include
\n
\n
blood tests
\n
transient elastography, a special ultrasound of your liver
\n
liver biopsy, in which a doctor uses a needle to take a small piece of tissue from your liver
\n
\n
Doctors typically use liver biopsy only if other tests don\u2019t provide enough information about a person\u2019s liver damage or disease. Talk with your doctor about which tests are best for you.
\n
How do doctors treat hepatitis B?
\n
Doctors typically don\u2019t treat hepatitis B unless it becomes chronic. Doctors may treat chronic hepatitis B with antiviral medicines that attack the virus.
\n
Not everyone with chronic hepatitis B needs treatment. If blood tests show that hepatitis B could be damaging a person\u2019s liver, a doctor may prescribe antiviral medicines to lower the chances of liver damage and complications.
The length of treatment varies. Hepatitis B medicines may cause side effects. Talk with your doctor about the side effects of treatment. Tell your doctor before taking any other prescription or over-the-counter medicines.
How do doctors treat the complications of hepatitis B?
\n
If chronic hepatitis B leads to cirrhosis, you should see a doctor who specializes in liver diseases. Doctors can treat the health problems related to cirrhosis with medicines, minor medical procedures, and surgery. If you have cirrhosis, you have an increased chance of liver cancer. Your doctor may order blood tests and an ultrasound or another type of imaging test to check for liver cancer.
\n
If chronic hepatitis B leads to liver failure or liver cancer, you may need a liver transplant.
\n
How can I protect myself from hepatitis B infection?
\n
You can protect yourself from hepatitis B by getting the hepatitis B vaccine. If you have not had the vaccine, you can take steps to reduce your chance of infection.
\n
Hepatitis B vaccine
\n
The hepatitis B vaccine has been available since the 1980s and should be given to newborns, children, and teens in the United States. Adults who are more likely to be infected with hepatitis B or who have chronic liver disease should also get the vaccine. The hepatitis B vaccine is safe for pregnant women.
\n
Doctors most often give the hepatitis B vaccine in three shots over 6 months. You must get all three shots to be fully protected. In some cases, doctors may recommend a different number or timing of vaccine shots.
\n
If you are traveling to countries where hepatitis B is common and you haven\u2019t received the hepatitis B vaccine, talk with your doctor and try to get all the shots before you go. If you don\u2019t have time to get all the shots before you travel, get as many as you can. Even one shot may give you some protection against the virus.
\n \n
Reduce your chance of infection
\n
You can reduce your chance of hepatitis B infection by
\n
\n
not sharing drug needles or other drug materials
\n
wearing gloves if you have to touch another person\u2019s blood or open sores
\n
making sure your tattoo artist or body piercer uses sterile tools
\n
not sharing personal items, such as toothbrushes, razors, or nail clippers
\n
using a latex or polyurethane condom during sex
\n
\n
Prevent infection after contact with the virus
\n
If you think you have been in contact with the hepatitis B virus, see your doctor right away. Doctors typically recommend a dose of the hepatitis B vaccine to prevent infection. In some cases, doctors may also recommend a medicine called hepatitis B immune globulin (HBIG) to help prevent infection. You must get the vaccine dose and, if needed, HBIG shortly after coming into contact with the virus, preferably within 24 hours.
\n
How can I prevent spreading hepatitis B to others?
\n
If you have hepatitis B, follow the steps above to avoid spreading the infection. Your sex partners should get a hepatitis B test and, if they aren\u2019t infected, get the hepatitis B vaccine. You can protect others from getting infected by telling your doctor, dentist, and other health care professionals that you have hepatitis B. Don\u2019t donate blood or blood products, semen, organs, or tissue.
\n
Prevent hepatitis B infections in newborns
\n
If you are pregnant and have hepatitis B, talk with your doctor about lowering the risk that the infection will spread to your baby. Your doctor will check your virus levels during pregnancy. If virus levels are high, your doctor may recommend treatment during pregnancy to lower virus levels and reduce the chance that hepatitis B will spread to your baby. Your doctor may refer you to a liver specialist to find out if you need hepatitis B treatment and to check for liver damage.
\n
When it is time to give birth, tell the doctor and staff who deliver your baby that you have hepatitis B. A health care professional should give your baby the hepatitis B vaccine and HBIG right after birth. The vaccine and HBIG will greatly reduce the chance of your baby getting the infection.
\n \n
Eating, diet, and nutrition for hepatitis B
\n
If you have hepatitis B, you should eat a balanced, healthy diet. Obesity can increase the chance of nonalcoholic fatty liver disease (NAFLD), and NAFLD can increase liver damage in people who have hepatitis B. Talk with your doctor about healthy eating and maintaining a healthy weight.
\n
You should also avoid alcohol because it can cause more liver damage.
\n
Clinical Trials for Hepatitis B
\n
The NIDDK conducts and supports clinical trials in many diseases and conditions, including liver diseases. The trials look to find new ways to prevent, detect, or treat disease and improve quality of life.
\n
What are clinical trials for hepatitis B?
\n
Clinical trials\u2014and other types of clinical studies\u2014are part of medical research and involve people like you. When you volunteer to take part in a clinical study, you help doctors and researchers learn more about disease and improve health care for people in the future.
\n
Researchers are studying many aspects of hepatitis B, such as
\n
\n
progression of hepatitis B and long-term outcomes
\n
new treatments for hepatitis B
\n
prevention of reactivated or worsening hepatitis B in people receiving cancer treatment
What clinical studies for hepatitis B are looking for participants?
\n
You can view a filtered list of clinical studies on hepatitis B that are federally funded, open, and recruiting at www.ClinicalTrials.gov. You can expand or narrow the list to include clinical studies from industry, universities, and individuals; however, the NIH does not review these studies and cannot ensure they are safe. Always talk with your health care provider before you participate in a clinical study.
\n
How is NIDDK- and NIH-funded research advancing the understanding of hepatitis B?
\n
The NIDDK and the NIH have supported many research projects to learn more about hepatitis B, including the NIDDK\u2019s Hepatitis B Research Network (HBRN). The HBRN, a network of 28 clinical sites throughout the United States and Canada, studies how hepatitis B affects children and adults and explores new approaches to diagnosis and treatment.
Hepatitis C is a viral infection that causes liver inflammation and damage. Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflammation can damage organs.
\n
Viruses invade normal cells in your body. Many viruses cause infections that can be spread from person to person. The hepatitis C virus spreads through contact with an infected person\u2019s blood.
\n
Hepatitis C can cause an acute or chronic infection.
\n
Although no vaccine for hepatitis C is available, you can take steps to protect yourself from hepatitis C. If you have hepatitis C, talk with your doctor about treatment. Medicines can cure most cases of hepatitis C.
\n
Acute hepatitis C
\n
Acute hepatitis C is a short-term infection. Symptoms can last up to 6 months. Sometimes your body is able to fight off the infection and the virus goes away.
\n
Chronic hepatitis C
\n
Chronic hepatitis C is a long-lasting infection. Chronic hepatitis C occurs when your body isn\u2019t able to fight off the virus. About 75 to 85 percent of people with acute hepatitis C will develop chronic hepatitis C.13
\n
Early diagnosis and treatment of chronic hepatitis C can prevent liver damage. Without treatment, chronic hepatitis C can cause chronic liver disease, cirrhosis, liver failure, or liver cancer.
\n
How common is hepatitis C in the United States?
\n
In the United States, hepatitis C is the most common chronic viral infection found in blood and spread through contact with blood.14
\n
Researchers estimate that about 2.7 million to 3.9 million people in the United States have chronic hepatitis C.13 Many people who have hepatitis C don\u2019t have symptoms and don\u2019t know they have this infection.
\n
Since 2006, the number of new hepatitis C infections has been rising, especially among people younger than age 30 who inject heroin or misuse prescription opioids and inject them.15,16
\n
New screening efforts and more effective hepatitis C treatments are helping doctors identify and cure more people with the disease. With more screening and treatment, hepatitis C may become less common in the future. Researchers estimate that hepatitis C could be a rare disease in the United States by 2036.17
\n
Who is more likely to get hepatitis C?
\n
People more likely to get hepatitis C are those who
In the United States, injecting drugs is the most common way that people get hepatitis C.13
\n
Should I be screened for hepatitis C?
\n
Doctors usually recommend one-time screening of all adults ages 18 to 79 for hepatitis C. Screening is testing for a disease in people who have no symptoms. Doctors use blood tests to screen for hepatitis C. Many people who have hepatitis C don\u2019t have symptoms and don\u2019t know they have hepatitis C. Screening tests can help doctors diagnose and treat hepatitis C before it causes serious health problems.
\n \n
What are the complications of hepatitis C?
\n
Without treatment, hepatitis C may lead to cirrhosis, liver failure, and liver cancer. Early diagnosis and treatment of hepatitis C can prevent these complications.
\n
Cirrhosis
\n
Cirrhosis is a condition in which the liver slowly breaks down and is unable to function normally. Scar tissue replaces healthy liver tissue and partially blocks the flow of blood through the liver. In the early stages of cirrhosis, the liver continues to function. However, as cirrhosis gets worse, the liver begins to fail.
\n
Liver failure
\n
Also called end-stage liver disease, liver failure progresses over months, years, or even decades. With end-stage liver disease, the liver can no longer perform important functions or replace damaged cells.
\n
Liver cancer
\n
Having chronic hepatitis C increases your chance of developing liver cancer. If chronic hepatitis C causes severe liver damage or cirrhosis before you receive hepatitis C treatment, you will continue to have an increased chance of liver cancer even after treatment. Your doctor may suggest blood tests and an ultrasound or another type of imaging test to check for liver cancer. Finding cancer at an early stage improves the chance of curing the cancer.
\n
What are the symptoms of hepatitis C?
\n
Most people infected with hepatitis C have no symptoms. Some people with an acute hepatitis C infection may have symptoms within 1 to 3 months after they are exposed to the virus. These symptoms may include
If you have chronic hepatitis C, you most likely will have no symptoms until complications develop, which could be decades after you were infected. For this reason, hepatitis C screening is important, even if you have no symptoms.
\n
What causes hepatitis C?
\n
The hepatitis C virus causes hepatitis C. The hepatitis C virus spreads through contact with an infected person\u2019s blood. Contact can occur by
\n
\n
sharing drug needles or other drug materials with an infected person
\n
getting an accidental stick with a needle that was used on an infected person
\n
being tattooed or pierced with tools or inks that were not kept sterile\u2014free from all viruses and other microorganisms\u2014and were used on an infected person before they were used on you
\n
having contact with the blood or open sores of an infected person
\n
using an infected person\u2019s razor, toothbrush, or nail clippers
\n
being born to a mother with hepatitis C
\n
having unprotected sex with an infected person
\n
\n
You can\u2019t get hepatitis C from
\n
\n
being coughed or sneezed on by an infected person
\n
drinking water or eating food
\n
hugging an infected person
\n
shaking hands or holding hands with an infected person
\n
sharing spoons, forks, and other eating utensils
\n
sitting next to an infected person
\n
\n
A baby can\u2019t get hepatitis C from breast milk.18
\n
How do doctors diagnose hepatitis C?
\n
Doctors diagnose hepatitis C based on your medical history, a physical exam, and blood tests. If you have hepatitis C, your doctor may perform additional tests to check your liver.
\n
Medical history
\n
Your doctor will ask about your symptoms and whether you have any history of blood transfusions or injected drug use.
\n
Physical exam
\n
During a physical exam, your doctor will typically examine your body to check for signs of liver damage such as
\n
\n
changes in skin color
\n
swelling in your lower legs, feet, or ankles
\n
tenderness or swelling in your abdomen
\n
\n
What tests do doctors use to diagnose hepatitis C?
\n
Doctors use blood tests to diagnose hepatitis C. Your doctor may order additional tests to check for liver damage, find out how much liver damage you have, or rule out other causes of liver disease.
\n
Blood tests
\n
Your doctor may order one or more blood tests to diagnose hepatitis C. A health care professional will take a blood sample from you and send the sample to a lab.
\n
Blood tests for hepatitis C include the following:
\n
\n
Screening test for antibodies to the hepatitis C virus. A screening blood test will show whether you have developed antibodies to the hepatitis C virus. A positive antibody test means you were exposed to the hepatitis C virus at some point. However, the virus may no longer be present in your blood if your body fought off the infection on its own or if you received treatment that cured the infection.
\n
Hepatitis C RNA test. If your antibody test is positive, your doctor will use a hepatitis C RNA test to detect RNA\u2014a type of genetic material\u2014from the hepatitis C virus. The hepatitis C RNA test can show whether you still have the hepatitis C virus and how much virus is in your blood. This information can help your doctor treat the infection. To see if you are responding to treatment, your doctor may order this test while you are undergoing treatment to find out if the amount of virus in your blood is changing.
\n
Genotype test. Your doctor can use this test to find out what strain, or form, of hepatitis C virus you have. At least six specific strains\u2014called genotypes\u2014of hepatitis C exist. Genotype 1 is the most common hepatitis C genotype in the United States.1 Your doctor will recommend treatment based on which hepatitis C genotype you have.
\n
\n \n
Additional tests
\n
If you\u2019ve had chronic hepatitis C for a long time, you could have liver damage. Your doctor may recommend additional tests to find out whether you have liver damage, how much liver damage you have, or to rule out other causes of liver disease. These tests may include
\n
\n
blood tests
\n
transient elastography, a special ultrasound of your liver
\n
liver biopsy, in which a doctor uses a needle to take a small piece of tissue from your liver
\n
\n
Doctors typically use liver biopsy only if other tests don\u2019t provide enough information about a person\u2019s liver damage or disease. Talk with your doctor about which tests are best for you.
\n
How do doctors treat hepatitis C?
\n
Doctors treat hepatitis C with antiviral medicines that attack the virus and can cure the disease in most cases.
\n
Several newer medicines, called direct-acting antiviral medicines, have been approved to treat hepatitis C since 2013. Studies show that these medicines can cure chronic hepatitis C in most people with this disease. These medicines can also cure acute hepatitis C. In some cases, doctors recommend waiting to see if an acute infection becomes chronic before starting treatment.
\n
Your doctor may prescribe one or more of these newer, direct-acting antiviral medicines to treat hepatitis C:
You may need to take medicines for 8 to 24 weeks to cure hepatitis C. Your doctor will prescribe medicines and recommend a length of treatment based on
\n
\n
which hepatitis C genotype you have
\n
how much liver damage you have
\n
whether you have been treated for hepatitis C in the past
\n
\n
Your doctor may order blood tests during and after your treatment. Blood tests can show whether the treatment is working. Hepatitis C medicines cure the infection in most people who complete treatment.
\n
Hepatitis C medicines may cause side effects. Talk with your doctor about the side effects of treatment. Check with your doctor before taking any other prescription or over-the-counter medicines.
The newer direct-acting antiviral medicines for hepatitis C can be costly. Most government and private health insurance prescription drug plans provide some coverage for these medicines. Talk with your doctor about your health insurance coverage for hepatitis C medicines.
\n
Drug companies, nonprofit organizations, and some states offer programs that can help pay for hepatitis C medicines. If you need help paying for medicines, talk with your doctor. Learn more about financial help for hepatitis C medicines.
\n
How do doctors treat the complications of hepatitis C?
\n
If hepatitis C leads to cirrhosis, you should see a doctor who specializes in liver diseases. Doctors can treat the health problems related to cirrhosis with medicines, surgery, and other medical procedures. If you have cirrhosis, you have an increased chance of liver cancer. Your doctor may order an ultrasound test to check for liver cancer.
\n
If hepatitis C leads to liver failure or liver cancer, you may need a liver transplant.
\n
How can I protect myself from hepatitis C infection?
\n
If you don\u2019t have hepatitis C, you can help protect yourself from hepatitis C infection by
\n
\n
not sharing drug needles or other drug materials
\n
wearing gloves if you have to touch another person\u2019s blood or open sores
\n
making sure your tattoo artist or body piercer uses sterile tools and unopened ink
\n
not sharing personal items such toothbrushes, razors, or nail clippers
\n
\n
Hepatitis C can spread from person to person during sex, but the chances are low. People who have multiple sex partners, have HIV or other sexually transmitted diseases, or who engage in rough or anal sex have a higher chance of getting hepatitis C. Talk with your doctor about your risk of getting hepatitis C through sex and about safe sex practices, such as using a latex or polyurethane condom to help prevent the spread of hepatitis C.
\n \n
If you had hepatitis C in the past and your body fought off the infection or medicines cured the infection, you can get hepatitis C again. Follow the steps above, and talk with your doctor about how to protect yourself from another hepatitis C infection.
\n
If you think you may have been exposed to the hepatitis C virus, see your doctor as soon as possible. Early diagnosis and treatment can help prevent liver damage.
\n
How can I prevent spreading hepatitis C to others?
\n
If you have hepatitis C, follow the steps above to avoid spreading the infection. Tell your sex partner you have hepatitis C, and talk with your doctor about safe sex practices. In addition, you can protect others from infection by telling your doctor, dentist, and other health care providers that you have hepatitis C. Don\u2019t donate blood or blood products, semen, organs, or tissue.
\n
Is a hepatitis C vaccine available?
\n
Researchers are still working on a vaccine for hepatitis C. If you have hepatitis C, talk with your doctor about vaccines for hepatitis A and hepatitis B. These vaccines can protect you from hepatitis A and hepatitis B infections, which could further damage your liver.
\n
What should I eat and drink if I have hepatitis C?
\n
If you have hepatitis C, you should eat a balanced, healthy diet. Talk with your doctor about healthy eating. You should also avoid alcohol because it can cause more liver damage.
Hepatitis D is a viral infection that causes liver inflammation and damage. Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflammation can damage organs.
\n
Viruses invade normal cells in your body. Many viruses cause infections that can spread from person to person.
Hepatitis D spreads the same way that hepatitis B spreads, through contact with an infected person\u2019s blood or other body fluids.
\n
The hepatitis D virus can cause an acute or chronic infection, or both.
\n
Acute hepatitis D
\n
Acute hepatitis D is a short-term infection. The symptoms of acute hepatitis D are the same as the symptoms of any type of hepatitis and are often more severe.19 Sometimes your body is able to fight off the infection and the virus goes away.
\n
Chronic hepatitis D
\n
Chronic hepatitis D is a long-lasting infection. Chronic hepatitis D occurs when your body is not able to fight off the virus and the virus does not go away. People who have chronic hepatitis B and D develop complications more often and more quickly than people who have chronic hepatitis B alone.20
\n
How do hepatitis D and hepatitis B infections occur together?
\n
Hepatitis D and hepatitis B infections may occur together as a coinfection or a superinfection. People can only become infected with hepatitis D when they also have hepatitis B.
\n
Coinfection
\n
A coinfection occurs when you get both hepatitis D and hepatitis B infections at the same time. Coinfections usually cause acute, or short-term, hepatitis D and B infections. Coinfections may cause severe acute hepatitis.
\n
In most cases, people are able to recover from and fight off the acute hepatitis D and B infections and the viruses go away. However, in less than 5 percent of people with a coinfection, both infections become chronic and do not go away.21
\n
Superinfection
\n
A superinfection occurs if you already have chronic hepatitis B and then become infected with hepatitis D. When you get a superinfection, you may have severe acute hepatitis symptoms.19
\n
Up to 90 percent of people with a superinfection are not able to fight off the hepatitis D virus, and develop chronic hepatitis D.20 As a result, these people will have both chronic hepatitis D and chronic hepatitis B.
\n
How common is hepatitis D?
\n
Hepatitis D is not common in the United States. Hepatitis D is more common in other parts of the world, including Eastern and Southern Europe; the Mediterranean region and Middle East; parts of Asia, including Mongolia; Central Africa; and the Amazon River basin in South America.22,23
\n
Who is more likely to have hepatitis D?
\n
Hepatitis D infection occurs only in people who have hepatitis B. People are more likely to have hepatitis D in addition to hepatitis B if they
\n
\n
are injection-drug users
\n
have lived with or had sex with someone who has hepatitis D
In rare cases, acute hepatitis D can lead to acute liver failure, a condition in which the liver fails suddenly. Although acute liver failure is uncommon, hepatitis D and B infections are more likely to lead to acute liver failure than hepatitis B infection alone.24
\n
What are the complications of chronic hepatitis D?
\n
Chronic hepatitis D may lead to cirrhosis, liver failure, and liver cancer. People who have chronic hepatitis B and D are more likely to develop these complications than people who have chronic hepatitis B alone.20 Early diagnosis and treatment of chronic hepatitis B and D can lower your chances of developing serious health problems.
\n
Cirrhosis
\n
Cirrhosis is a condition in which the liver slowly breaks down and is unable to work normally. Scar tissue replaces healthy liver tissue, partly blocking the flow of blood through the liver. In the early stages of cirrhosis, the liver continues to work. As cirrhosis gets worse, the liver begins to fail.
\n
Liver failure
\n
Also called end-stage liver disease, liver failure progresses over months or years. With end-stage liver disease, the liver can no longer perform important functions or replace damaged cells.
\n
Liver cancer
\n
Having chronic hepatitis B and chronic hepatitis D increases your chance of developing liver cancer. Your doctor may suggest blood tests and an ultrasound or other type of imaging test to check for liver cancer. Finding cancer at an early stage improves the chance of curing the cancer.
\n
What are the symptoms of hepatitis D?
\n
Most people with acute hepatitis D have symptoms, which may include
yellowish tint to the whites of the eyes and skin, called jaundice
\n
\n
In contrast, most people with chronic hepatitis D have few symptoms until complications develop, which could be several years after they were infected. Some symptoms of cirrhosis include
The hepatitis D virus causes hepatitis D. The hepatitis D virus spreads through contact with an infected person\u2019s blood or other body fluids. Contact can occur by
\n
\n
sharing drug needles or other drug materials with an infected person
\n
having unprotected sex with an infected person
\n
getting an accidental stick with a needle that was used on an infected person
\n
\n
The hepatitis D virus rarely spreads from mother to child during birth.
\n
You can\u2019t get hepatitis D from
\n
\n
being coughed on or sneezed on by an infected person
\n
drinking water or eating food
\n
hugging an infected person
\n
shaking hands or holding hands with an infected person
\n
sharing spoons, forks, and other eating utensils
\n
sitting next to an infected person
\n
\n
How do doctors diagnose hepatitis D?
\n
Doctors diagnose hepatitis D based on your medical history, a physical exam, and blood tests. If you have hepatitis D, your doctor may perform tests to check your liver.
During a physical exam, your doctor will check for signs of liver damage such as
\n
\n
changes in skin color
\n
swelling in your lower legs, feet, or ankles
\n
tenderness or swelling in your abdomen
\n
\n
What tests do doctors use to diagnose hepatitis D?
\n
Doctors use blood tests to diagnose hepatitis D. Your doctor may order tests to check for liver damage, find out how much liver damage you have, or rule out other causes of liver disease.
\n
Blood test
\n
Your doctor may order one or more blood tests to diagnose hepatitis D. A health care professional will take a blood sample from you and send the sample to a lab.
\n \n
Additional tests
\n
If you have chronic hepatitis D and hepatitis B, you could have liver damage. Your doctor may recommend tests to find out whether you have liver damage or how much liver damage you have\u2014or to rule out other causes of liver disease. These tests may include
\n
\n
blood tests.
\n
elastography, a special ultrasound that measures the stiffness of your liver.
\n
a liver biopsy, in which a doctor uses a needle to take a small piece of tissue from your liver. A pathologist will examine the tissue under a microscope to look for signs of damage or disease.
\n
\n
Doctors typically use liver biopsy only if other tests don\u2019t provide enough information about the liver damage or disease. Talk with your doctor about which tests are best for you.
\n
How do doctors treat hepatitis D?
\n
Doctors may treat chronic hepatitis D with medicines called interferons, such as peginterferon alfa-2a (Pegasys). Researchers are studying new treatments for hepatitis D. In addition, medicines for hepatitis B may be needed. These are usually medicines taken once daily by mouth.
\n
How do doctors treat the complications of hepatitis D?
\n
If chronic hepatitis D leads to cirrhosis, you should see a doctor who specializes in liver diseases. Doctors can treat health problems related to cirrhosis with medicines, surgery, and other medical procedures. If you have cirrhosis, you have a greater chance of developing liver cancer. Your doctor may order an ultrasound or other type of imaging test to check for liver cancer.
\n
If acute hepatitis D leads to acute liver failure, or if chronic hepatitis D leads to liver failure or liver cancer, you may need a liver transplant.
\n
How can I protect myself from hepatitis D infection?
\n
If you do not have hepatitis B, you can prevent hepatitis D infection by taking steps to prevent hepatitis B infection, such as getting the hepatitis B vaccine. If you do not get hepatitis B, you cannot get hepatitis D.
\n
If you already have hepatitis B, you can take steps to prevent hepatitis D infection by
\n
\n
not sharing drug needles or other drug materials
\n
wearing gloves if you have to touch another person\u2019s blood or open sores
\n
not sharing personal items such as toothbrushes, razors, or nail clippers
\n
\n
How can I prevent spreading hepatitis D to others?
\n
If you have hepatitis D, follow the steps above to avoid spreading the infection. Your sex partners should get a hepatitis B test and, if they aren\u2019t infected, get the hepatitis B vaccine. Preventing hepatitis B will also prevent hepatitis D.
\n
You can protect others from getting infected by telling your doctor, dentist, and other health care professionals that you have hepatitis D. Don\u2019t donate blood or blood products, semen, organs, or tissue.
\n
Is a hepatitis D vaccine available?
\n
No vaccine for hepatitis D is currently available. The hepatitis B vaccine can prevent hepatitis D by preventing hepatitis B.
\n
Eating, diet, and nutrition for hepatitis D
\n
If you have hepatitis D, you should eat a balanced, healthy diet. Talk with your doctor about healthy eating. You should also avoid alcohol because it can cause more liver damage.
Hepatitis E is a viral infection that causes liver inflammation and damage. Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflammation can damage organs.
\n
Viruses invade normal cells in your body. The hepatitis E virus has different types that spread in different ways.
\n
\n
Some types are spread by drinking contaminated water. These types are more common in developing countries, including parts of Africa, Asia, Central America, and the Middle East.
\n
Other types are spread by eating undercooked pork or wild game, such as deer. These types are more common in developed countries, such as the United States, Australia, Japan, and parts of Europe and East Asia.
\n
\n
Hepatitis E typically causes acute, or short-term, infection.
\n
Acute hepatitis E
\n
Acute hepatitis E is a short-term infection. In most cases, people\u2019s bodies are able to recover and fight off the infection and the virus goes away. People usually get better without treatment after several weeks.
\n
Chronic hepatitis E
\n
Chronic hepatitis E is a long-lasting infection that occurs when your body isn\u2019t able to fight off the virus and the virus does not go away. Chronic hepatitis E is rare and only occurs in people with weakened immune systems. For example, hepatitis E may become chronic in people taking medicines that weaken their immune system after an organ transplant, or in people who have HIV or AIDS.
\n
How common is hepatitis E?
\n
Hepatitis E is more common in developing countries, where sanitation is poor and access to clean water is limited.
\n
Although experts used to think hepatitis E was rare in the United States, recent research suggests that about 20 percent of the population has had hepatitis E.25
\n
How serious is hepatitis E?
\n
The types of hepatitis E that are common in developing countries are likely to cause severe infections, especially in pregnant women.
\n
The types of hepatitis E that are common in developed countries are often mild and cause no symptoms. Many people don\u2019t know they\u2019ve had these types of hepatitis E.
\n
Who is more likely to get hepatitis E?
\n
Different types of hepatitis E are more likely to affect different groups of people. The types of hepatitis E that are more common in developing countries are more likely to affect adolescents and young adults.26
\n
In contrast, the types of hepatitis E that are more common in developed countries most often affect older men.26
\n
What are the complications of hepatitis E?
\n
Acute hepatitis E complications
\n
Most people recover from acute hepatitis E without complications. In some cases, acute hepatitis E may cause acute liver failure, a condition in which the liver fails suddenly. Acute liver failure due to hepatitis E is more common in
Chronic hepatitis E\u2014which is rare and only occurs in people with weakened immune systems\u2014may lead to complications such as cirrhosis or liver failure.
\n
What are the symptoms of hepatitis E?
\n
Many people infected with hepatitis E have no symptoms. Some people have symptoms 15 to 60 days after they become infected with the virus.27 These symptoms may include
yellowish tint to the whites of the eyes and skin, called jaundice
\n
\n
People with hepatitis E typically get better without treatment after several weeks.
\n
What causes hepatitis E?
\n
The hepatitis E virus causes hepatitis E. In developing countries, hepatitis E typically spreads through drinking contaminated water. In developed countries, such as the United States, hepatitis E typically spreads from animals to people, when people eat undercooked pork or wild game, such as deer.
\n
Research suggests that hepatitis E can also spread through blood transfusion, but this is very rare.
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How do doctors diagnose hepatitis E?
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Doctors diagnose hepatitis E based on symptoms and blood tests. A health care professional will take a blood sample from you and send the sample to a lab. Blood tests can detect antibodies to the hepatitis E virus and show whether you have hepatitis E. The virus can also be detected in blood and in stool samples taken during acute hepatitis E infection.
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How do doctors treat hepatitis E?
\n
Treatment for acute hepatitis E includes resting, drinking plenty of liquids, and eating healthy foods to help relieve symptoms.
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Talk with your doctor before taking any prescription or over-the-counter medicines, vitamins or other dietary supplements, or complementary or alternative medicines\u2014any of these could damage your liver. You should avoid alcohol until your doctor tells you that you have completely recovered from hepatitis E.
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See your doctor regularly to make sure your body has fully recovered.
\n
Doctors may treat chronic hepatitis E with ribavirin or peginterferon alfa-2a (Pegasys).
\n
How can I protect myself from hepatitis E infection?
\n
When traveling in a developing country, drink bottled water. Use bottled water to brush your teeth, make ice cubes, and wash fruits and vegetables.
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Also, make sure any pork or deer you eat is thoroughly cooked, both in developing countries and in developed countries such as the United States.
\n \n
How can I prevent spreading hepatitis E to others?
\n
Research suggests that it is uncommon for people to spread hepatitis E directly to other people. If you have hepatitis E, you can reduce your chance of spreading the infection by washing your hands with warm, soapy water after using the toilet and before preparing food. Talk with a blood donation center before you donate blood.
\n
Is a hepatitis E vaccine available?
\n
No vaccine for hepatitis E is available in the United States. Vaccines have been developed and are used in China.
\n
What should I eat and drink if I have hepatitis E?
\n
If you have hepatitis E, you should eat a balanced, healthy diet. Talk with your doctor about healthy eating. You should also avoid alcohol because it can cause more liver damage.
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References
\n \n \n \n
This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by NIDDK is carefully reviewed by NIDDK scientists and other experts.
\n
The NIDDK would like to thank: Raymond Chung, M.D., Massachusetts General Hospital; Adrian M. Di Bisceglie, M.D., Saint Louis University School of Medicine; Paul Martin, M.D., University of Miami Miller School of Medicine
Nonalcoholic fatty liver disease (NAFLD) is a condition in which excess fat builds up in your liver. This buildup of fat is not caused by heavy alcohol use. When heavy alcohol use causes fat to build up in the liver, this condition is called alcohol-associated liver disease.
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Two types of NAFLD are nonalcoholic fatty liver (NAFL) and nonalcoholic steatohepatitis (NASH). People typically develop one type of NAFLD or the other, although sometimes people with one form are later diagnosed with the other form of NAFLD.
\n
NAFL
\n
NAFL is a form of NAFLD in which you have fat in your liver but little or no inflammation or liver damage. NAFL typically does not progress to cause liver damage or complications. However, NAFL can cause pain from enlargement of the liver.
\n
NASH
\n
NASH is the form of NAFLD in which you have inflammation of the liver and liver damage, in addition to fat in your liver. The inflammation and liver damage of NASH can cause fibrosis, or scarring, of the liver. NASH may lead to cirrhosis, in which the liver is scarred and permanently damaged. Cirrhosis can lead to liver cancer.
\n
Experts are not sure why some people with NAFLD have NASH while others have NAFL.
\n
How common is NAFLD?
\n
NAFLD is one of the most common causes of liver disease in the United States. The majority of people with NAFLD have NAFL. Only a small number of people with NAFLD have NASH. Experts estimate about 24% of U.S. adults have NAFLD and about 1.5% to 6.5% of U.S. adults have NASH.1
\n
Who is more likely to develop NAFLD?
\n
NAFLD is more common in people who have certain diseases and conditions, including obesity, and conditions that may be related to obesity, such as type 2 diabetes. Studies suggest that one-third to two-thirds of people with type 2 diabetes have NAFLD.1 Research also suggests that NAFLD is present in up to 75% of people who are overweight and in more than 90% of people who have severe obesity.2, 3
\n
\n NAFLD is more common in people who have obesity. \n
\n
\n \n
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NAFLD can affect people of any age, including children. Research suggests that close to 10% of U.S. children ages 2 to 19 have NAFLD.4 However, people are more likely to develop NAFLD as they age.
\n
While NAFLD occurs in people of all races and ethnicities, it is most common among Hispanic individuals, followed by non-Hispanic whites and Asian Americans, including those of East Asian and South Asian descent.5,6 NAFLD is less common among non-Hispanic Blacks.5 On average, Asian Americans with NAFLD have a lower BMI than non-Hispanic whites with NAFLD.6 Experts think that genes may help explain some of the racial and ethnic differences in NAFLD.
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What are the complications of NAFLD?
\n
People with NAFLD may develop liver complications or other health problems.
\n
Liver complications
\n
People with NAFL typically don\u2019t develop liver complications, although they have a higher risk for other health problems.1
\n
People with NASH can develop liver complications, such as cirrhosis and liver cancer. If cirrhosis leads to liver failure, you may need a liver transplant. People with NASH have an increased chance of dying from liver-related causes.5
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Other health problems
\n
People with NAFLD have a higher risk for certain health problems, including
\n
\n
cardiovascular disease, which is the most common cause of death in people who have NAFLD5
Usually, nonalcoholic fatty liver disease (NAFLD)\u2014including nonalcoholic fatty liver (NAFL) and nonalcoholic steatohepatitis (NASH)\u2014is a silent disease with few or no symptoms. You may not have symptoms even if you develop cirrhosis due to NASH.
\n
If you do have symptoms, you may feel tired or have discomfort in the upper right side of your abdomen.
\n
What causes NAFLD?
\n
Experts are still studying the causes of NAFLD. Research suggests that certain health conditions or diseases, your genes, and diet and the digestive system may make you more likely to develop NAFLD.
\n
Health conditions and diseases
\n
You are more likely to develop NAFLD if you have the following health conditions or diseases
metabolic syndrome or one or more traits of metabolic syndrome. Metabolic syndrome is a group of traits and medical conditions linked to overweight and obesity. Doctors define metabolic syndrome as the presence of any three of the following \n
higher than normal blood glucose levels or a diagnosis of type 2 diabetes
\n
\n
\n
Having more of these health conditions increases your chances of developing NASH. Losing weight may cause NASH to switch to NAFL, and regaining weight may cause NAFL to switch to NASH.
\n
Genes
\n
Researchers have found that certain genes may make you more likely to develop NAFLD. These genes may help explain why NAFLD is more common in certain racial and ethnic groups. Experts are still studying the genes that may play a role in NAFLD.
\n
Diet and the digestive system
\n
Researchers are studying whether diets high in fructose\u2014a sugar that is part of table sugar and is also commonly added to sweeten drinks and foods\u2014may increase the risk of NAFLD.
\n
Scientists have also examined the relationship between NAFLD and the microbiome\u2014the bacteria in your digestive tract that help with digestion. Studies have found differences between the microbiomes of people who have NAFLD and those who don\u2019t. Experts are still studying how the microbiome may affect NAFLD.
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Is NAFLD the only cause of fatty liver?
\n
Fatty liver may have causes other than NAFLD. If medical tests suggest you have a buildup of fat in your liver, your doctor may ask questions or order tests for other causes.
\n
Alcohol-associated liver disease
\n
Fat may build up in the liver due to alcohol-associated liver disease\u2014damage to the liver and its function due to excessive alcohol consumption. If you have a history of heavy alcohol use and fat in your liver, your doctor may determine you have alcohol-associated liver disease instead of NAFLD.
\n
If you have risks for NAFLD and also drink excessively, you could have both NAFLD and alcohol-associated liver disease at the same time. No tests can easily tell how much each plays a role.
\n
Other causes
\n
Other causes of excess fat in the liver include
\n
\n
disorders, called lipodystrophies, that cause your body to use or store fat improperly
Doctors use your medical history, a physical exam, and tests to diagnose nonalcoholic fatty liver disease (NAFLD)\u2014including nonalcoholic fatty liver (NAFL) and nonalcoholic steatohepatitis (NASH).
\n
Medical history
\n
Your doctor will ask if you have a history of health conditions or diseases that make you more likely to develop NAFLD, such as
Your doctor will ask about diet and lifestyle factors that may make you more likely to develop NAFLD, such as a lack of physical activity, eating a diet high in sugar, or drinking sugary beverages.
\n
Your doctor will also ask about other causes of liver disease or fat in your liver. Your doctor will ask about your alcohol intake to find out whether fat in your liver is a sign of alcohol-associated liver disease or NAFLD.
\n
\n Your doctor will ask if you have a history of health conditions that make you more likely to develop NAFLD. \n
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Physical exam
\n
During a physical exam, a doctor usually examines your body and checks your weight and height to calculate your body mass index. Your doctor will look for signs of NAFL or NASH, such as
\n
\n
an enlarged liver
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signs of insulin resistance, such as darkened skin patches over your knuckles, elbows, and knees
Doctors use blood tests, imaging tests, and sometimes liver biopsy to diagnose NAFLD and to tell the difference between NAFL and NASH.
\n
Blood tests
\n
A health care professional may take a blood sample from you and send the sample to a lab. Your doctor may suspect you have NAFLD if your blood test shows increased levels of the liver enzymes alanine aminotransferase (ALT) and aspartate aminotransferase (AST).
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Your doctor may use the results of routine blood tests to calculate special scores, such as the FIB-4 or APRI. These scores can help doctors identify or rule out advanced liver fibrosis, or scarring.
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Your doctor may perform additional blood tests to find out if you have other health conditions that may increase your liver enzyme levels.
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Imaging tests
\n
Routine imaging tests can show fat in your liver. These tests can\u2019t show inflammation or fibrosis, so your doctor can\u2019t use these tests to find out whether you have NAFL or NASH. If you have cirrhosis, routine imaging tests may show nodules, or lumps, in your liver.
\n
Your doctor may use the following imaging tests to help diagnose NAFLD
\n
\n
ultrasound, which uses a device called a transducer that bounces safe, painless sound waves off your organs to create an image of their structure
magnetic resonance imaging (MRI), which uses radio waves and magnets to produce detailed images of organs and soft tissues without using x-rays
\n
\n
Elastography is a newer type of imaging test that can help determine if you have advanced liver fibrosis. In some cases, doctors may order elastography tests to measure the stiffness of your liver. Increased liver stiffness may be a sign of fibrosis. Commonly used types of elastography are
\n
\n
vibration-controlled transient elastography, a special type of ultrasound
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sheer wave elastography, another type of ultrasound to detect increased liver stiffness
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magnetic resonance elastography, a special type of MRI to measure liver stiffness
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Liver biopsy
\n
Liver biopsy is the only test that can prove a diagnosis of NASH and show clearly how severe the disease is. Liver biopsy can show fibrosis at earlier stages than elastography can. However, doctors don\u2019t recommend liver biopsy for everyone with suspected NAFLD. Your doctor may recommend a liver biopsy if you are more likely to have NASH with advanced fibrosis or if your other tests show signs of advanced liver disease or cirrhosis. In some cases, doctors may recommend a liver biopsy to rule out other liver diseases.
\n
During a liver biopsy, a doctor will take small pieces of tissue from your liver. A pathologist will examine the tissue under a microscope to look for signs of damage or disease.
\n
\n View full-sized imageDuring a liver biopsy, a doctor will take a piece of tissue from your liver. A pathologist will examine the tissue under a microscope. \n
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Treatment
\n
How do doctors treat NAFLD?
\n
Doctors recommend weight loss to treat nonalcoholic fatty liver disease (NAFLD), either nonalcoholic fatty liver (NAFL) or nonalcoholic steatohepatitis (NASH). Weight loss can reduce fat, inflammation, and fibrosis\u2014or scarring\u2014in the liver.
\n
If you are overweight or have obesity, losing weight by making healthy food choices, limiting portion sizes, and being physically active can improve NAFLD\u2014either NAFL or NASH. Losing at least 3% to 5% of your body weight can reduce fat in the liver.5 You may need to lose up to 7% to 10% of your body weight to reduce liver inflammation and fibrosis.5 Physical activity alone, even without weight loss, is also beneficial.
\n
Doctors recommend gradually losing weight to improve NAFLD. Rapid weight loss and malnutrition can make liver disease worse.
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\n If you are overweight or have obesity, losing weight can improve NAFLD. \n
\n
Medicines
\n
No medicines have been approved to treat NAFLD\u2014either NAFL or NASH. However, researchers are studying medicines that may improve these conditions.
If NASH leads to cirrhosis, doctors can treat many complications of cirrhosis with medicines, minor medical procedures, and surgery. People with liver failure or liver cancer may need a liver transplant to restore health.
\n
How can I prevent NAFLD?
\n
You may be able to prevent NAFLD by being physically active regularly, eating a healthy diet, limiting your portion sizes, and maintaining a healthy weight.
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References
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Eating, Diet, & Nutrition
\n
How can my diet help prevent or treat NAFLD?
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If you don\u2019t have nonalcoholic fatty liver disease (NAFLD)\u2014nonalcoholic fatty liver (NAFL) or nonalcoholic steatohepatitis (NASH)\u2014you may be able to prevent these conditions by eating a healthy diet, limiting your portion sizes, and maintaining a healthy weight.
eating more low-glycemic index foods\u2014such as most fruits, vegetables, and whole grains. These foods affect your blood glucose less than high-glycemic index foods, such as white bread, white rice, and potatoes.
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avoiding foods and drinks that contain large amounts of simple sugars, especially fructose. Fructose is found in sweetened soft drinks, sports drinks, sweetened tea, and juices. Table sugar, called sucrose, is rapidly changed to glucose and fructose during digestion and is therefore a major source of fructose.
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If you have NAFLD, you should minimize alcohol use, which can further damage your liver.
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Clinical Trials
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The NIDDK conducts and supports clinical trials in many diseases and conditions, including liver diseases. The trials look to find new ways to prevent, detect, or treat disease and improve quality of life.
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What are clinical trials for NAFLD?
\n
Clinical trials\u2014and other types of clinical studies \u2014are part of medical research and involve people like you. When you volunteer to take part in a clinical study, you help doctors and researchers learn more about disease and improve health care for people in the future.
\n
Researchers are studying many aspects of nonalcoholic fatty liver disease (NAFLD), nonalcoholic fatty liver (NAFL), and nonalcoholic steatohepatitis (NASH). For example, researchers are studying
\n
\n
new treatments for NASH
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how genes may increase the risk for NAFLD
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how liver diseases, such as NAFLD, develop and progress over time
Watch a video of NIDDK Director Dr. Griffin P. Rodgers explaining the importance of participating in clinical trials.
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\n \n
\n
What clinical studies for NAFLD are looking for participants?
\n
You can view a filtered list of clinical studies on NAFLD that are federally funded, open, and recruiting at www.ClinicalTrials.gov. You can expand or narrow the list to include clinical studies from industry, universities, and individuals; however, the National Institutes of Health does not review these studies and cannot ensure they are safe. Always talk with your health care provider before you participate in a clinical study.
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What have we learned about NAFLD from NIDDK-funded research?
\n
The NIDDK has supported many research projects to learn more about NAFLD and NASH. For example, the NIDDK\u2019s NASH Clinical Research Network (NASH CRN) has conducted studies to advance understanding of the causes, development, complications, and treatment of NASH in children and adults. NASH CRN studies have included
\n
\n
Pioglitazone or Vitamin E for NASH Study (PIVENS). Researchers found that a daily dose of the natural form of vitamin E\u2014the type of vitamin E that comes from food sources and is not synthetic (laboratory-made)\u2014improved NASH in study participants overall. Pioglitazone also improved some features of NASH, although researchers couldn\u2019t prove that the improvements did not occur randomly. Many study participants taking pioglitazone gained weight, and many participants did not improve from either treatment. More research is needed to determine whether treatment with vitamin E or pioglitazone causes long-term risks.
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Treatment of Nonalcoholic Fatty Liver Disease in Children (TONIC) trial. The TONIC trial found that the natural form of vitamin E\u2014the type of vitamin E that comes from food sources and is not synthetic (laboratory-made)\u2014improved the most severe form of fatty liver disease in some children. More research is needed to determine whether treatment with vitamin E causes long-term risks.
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The Farnesoid X Receptor Ligand Obeticholic Acid in NASH Treatment Trial (FLINT). FLINT found that obeticholic acid (OCA) treatment was associated with improved liver function in people with NASH. OCA was also associated with increases in itching and total cholesterol. These results led to a large worldwide study that is still being evaluated to determine whether OCA is a safe and effective treatment for NASH and to fully understand how OCA affects cholesterol.
\n
\n \n \n
This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by NIDDK is carefully reviewed by NIDDK scientists and other experts.
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The NIDDK would like to thank: Brent A. Tetri, M.D., Saint Louis University
Nonalcoholic fatty liver disease (NAFLD) is a condition in which excess fat builds up in the liver. This buildup of fat is not caused by heavy alcohol use. When heavy alcohol use causes fat to build up in the liver, this condition is called alcohol-associated liver disease.
\n
Two types of NAFLD are nonalcoholic fatty liver (NAFL) and nonalcoholic steatohepatitis (NASH). Children typically develop one type of NAFLD or the other, although sometimes children with one form are later diagnosed with the other form of NAFLD. NAFL is a mild condition, and NASH is a more serious condition.
\n
NAFL
\n
NAFL is the form of NAFLD in which a child has increased fat in the liver but little or no inflammation or liver damage. NAFL typically doesn\u2019t progress to cause liver damage or complications.
\n
NASH
\n
NASH is the form of NAFLD in which a child has inflammation of the liver and liver damage, in addition to fat in the liver. The inflammation and liver damage of NASH can cause fibrosis, or scarring, of the liver. NASH may lead to cirrhosis, in which the liver is scarred and permanently damaged. Cirrhosis can lead to liver cancer.
\n
Experts are not sure why some children with NAFLD have NASH while others have NAFL.
\n
How common is NAFLD in children?
\n
NAFLD is the most common cause of chronic liver disease in children in the United States. Studies suggest that 5% to 10% of children have NAFLD.1 NAFLD has become more common in children in recent decades, in part because childhood obesity has become more common.
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Research suggests that 20% to 50% of children with NAFLD have the NASH form of the disease.1
\n
Who is more likely to develop NAFLD?
\n
Children who have certain health problems, including obesity and conditions related to obesity, are more likely to develop NAFLD.
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NAFLD is more common in older children than in younger children and more common in boys than in girls.
\n
Although NAFLD occurs in children of all races and ethnicities, it\u2019s most common in Hispanic children and Asian American children, followed by white children. NAFLD is less common in Black children.1
\n NAFLD is more common in older children than in younger children and more common in boys than in girls. \n
What are the complications of NAFLD?
\n
Children with NAFLD have a greater chance of developing liver complications or other health problems.
\n
Liver complications
\n
The majority of children with NAFLD have NAFL.1 Children with NAFL typically don\u2019t develop liver complications, although they have a higher risk for other health problems such as diabetes.
\n
However, some children with NAFLD have NASH. NASH can lead to liver complications such as cirrhosis and liver cancer. If cirrhosis leads to liver failure, a liver transplant may be needed.
\n
Compared with people who develop NAFLD during adulthood, people who develop NAFLD during childhood are more likely to have NASH and related complications or liver disease as adults. Children with NASH may develop cirrhosis during childhood.2 However, the complications of cirrhosis, such as liver failure and liver cancer, usually arise in adulthood.
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Other health problems
\n
Children with NAFLD have a higher risk for certain health problems, including
People with the metabolic syndrome have a greater chance of heart disease, stroke, and hardening of the arteries as adults.
\n
References
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Symptoms & Causes
\n
What are the symptoms of NAFLD in children?
\n
Usually, nonalcoholic fatty liver disease (NAFLD)\u2014including nonalcoholic fatty liver (NAFL) and nonalcoholic steatohepatitis (NASH)\u2014is a silent disease with few or no symptoms. Children may not have symptoms even if they develop cirrhosis due to NASH.
\n
Once symptoms arise, however, a child may already have permanent liver damage. If children do have symptoms from NASH, they may feel tired, become tired easily, or have discomfort over the liver, in the upper right side of the abdomen.
\n
What causes NAFLD in children?
\n
Experts are still studying the causes of NAFLD. Research suggests that certain health problems, genes, and other factors may make some children more likely to develop NAFLD.
\n
Health problems
\n
Children with the following health problems are more likely to develop NAFLD
metabolic syndrome, or one or more traits of metabolic syndrome. Metabolic syndrome is a group of traits and medical conditions linked to overweight and obesity. Doctors typically define metabolic syndrome in children as a combination of three or more of the following features \n
\n
large waist size.
\n
high levels of triglycerides in the blood.
\n
low levels of HDL cholesterol in the blood.
\n
high blood pressure.
\n
higher-than-normal blood glucose levels or a diagnosis of type 2 diabetes.
\n
\n
\n
Doctors may not be able to diagnose metabolic syndrome in children younger than age 10. Children in this age group may still have traits of metabolic syndrome.
\n
Experts do not know for sure why some children with NAFLD have NAFL while others have NASH. Research suggests that NASH is more common in children who have both NAFLD and type 2 diabetes.3
\n
Genes
\n
Certain genes may increase a child\u2019s chance of developing NAFLD. These genes may explain why NAFLD is more common in Hispanic and Asian American children than in Black children. Genes may also explain why NAFLD sometimes runs in families.
\n
Experts are still studying the genes that may play a role in NAFLD.
\n
Other factors
\n
Scientists are studying other factors that may play a role in causing or worsening NAFLD in children. These include
\n
\n
birthweight. Research suggests that children who had a high or low birthweight are more likely to develop NAFLD.
\n
changes in the microbiome\u2014the bacteria in the digestive tract that help with digestion. Studies have found differences between the microbiomes of children who have NAFLD and those who do not.
\n
diets high in fructose\u2014a sugar that is part of table sugar and is also commonly added to sweeten drinks and foods. Studies suggest that diets high in fructose may increase the risk of NAFLD.
\n
\n
Is NAFLD the only cause of fatty liver in children?
\n
Fatty liver may have causes other than NAFLD. If medical tests suggest that a child has a buildup of fat in the liver, the doctor may ask questions and order tests for other causes.
\n
Other causes of fatty liver in children include
\n
\n
disorders, called lipodystrophies, that cause a child\u2019s body to use or store fat improperly
alcohol-associated liver disease\u2014damage to the liver and its function due to excessive alcohol consumption
\n
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Reference
\n \n \n \n \n
Diagnosis
\n
How do doctors diagnose NAFLD in children?
\n
Doctors use medical and family history, a physical exam, and tests to diagnose nonalcoholic fatty liver disease (NAFLD)\u2014including nonalcoholic fatty liver (NAFL) and nonalcoholic steatohepatitis (NASH)\u2014in children.
\n
Medical and family history
\n
The doctor will ask about the child\u2019s history of health problems that increase the chance of developing NAFLD, such as
The doctor will ask about the presence of these health problems or NAFLD in the child\u2019s family. Children with a family history of these health problems are more likely to develop NAFLD.
\n
The doctor will also ask about diet and lifestyle factors that may make a child more likely to develop NAFLD and NASH, such as a lack of physical activity, eating a diet high in sugar and starch, or drinking sugary beverages.
\n
Physical exam
\n
During a physical exam, a doctor typically checks weight and height to calculate the child\u2019s body mass index. The doctor will also look for physical signs of NAFLD or NASH, such as
What tests do doctors use to diagnose NAFLD in children?
\n
Doctors use blood tests, imaging tests, and sometimes liver biopsy to diagnose NAFLD in children, to tell the difference between NAFL and NASH, and to check for other liver problems.
\n
Blood tests
\n
A health care professional may take a blood sample from the child and send the sample to a lab. The doctor may suspect NAFLD if the blood test shows increased levels of the liver enzymes alanine aminotransferase (ALT) and aspartate aminotransferase (AST). The doctor may perform additional blood tests to find out if the child has other health conditions that may increase liver enzyme levels.
\n
Imaging tests
\n
If a blood test shows that a child has increased liver enzyme levels, the doctor may order imaging tests of the liver. While imaging tests cannot confirm a diagnosis of NAFLD or tell the difference between NAFL and NASH, imaging tests may show signs of other liver problems or may suggest that fat is present in the liver.
\n
A commonly used imaging test is ultrasound. Ultrasound bounces safe, painless sound waves off organs to create an image of their structure. Ultrasound tests do not use radiation and are not painful.
\n
Elastography is a newer type of test that may help determine whether a child has advanced liver fibrosis, or scarring. In some cases, doctors may order an elastography test to measure the stiffness of a child\u2019s liver. Increased liver stiffness may be a sign of fibrosis.
\n
Types of elastography tests include special ultrasound and magnetic resonance imaging (MRI) tests. MRI uses radio waves and magnets to produce detailed images of organs and soft tissues without using x-rays. Researchers are still studying the use of these tests to help diagnose NAFLD in children.
\n
Liver biopsy
\n
Liver biopsy is the only test that can prove a diagnosis of NAFLD, tell whether a child has NAFL or NASH, and show clearly how severe the disease is, including how much fibrosis\u2014or scarring\u2014is present. However, doctors may not recommend this test for all children with suspected NAFLD. In some cases, doctors recommend a liver biopsy to rule out other liver diseases. Doctors may also recommend a biopsy for children who have a greater chance of having NASH or scarring of the liver.
\n
During a liver biopsy, a doctor will take a small piece of tissue from the liver. A pathologist will examine the tissue under a microscope to look for signs of damage and signs of the cause of liver disease.
\n \n \n \n
Treatment
\n
How do doctors treat NAFLD in children?
\n
Doctors may recommend that children with overweight or obesity gradually lose weight to treat nonalcoholic fatty liver disease (NAFLD)\u2014either nonalcoholic fatty liver (NAFL) or nonalcoholic steatohepatitis (NASH). Weight loss is the most effective way to reduce fat, inflammation, and fibrosis\u2014or scarring\u2014in the liver. Doctors may suggest that young children try to maintain their weight as their height increases. Most important is to avoid further excess weight gain.
\n
To manage weight and help improve NAFLD, you can help your child
\n
\n
improve healthy eating habits
\n
avoid drinking beverages that have added sugar
\n
avoid \u201cfast foods\u201d high in sugar, starch, and fat
\n
be more physically active
\n
\n
You can also help your child by being a role model in both healthy eating and physical activity.
\n
No medicines have been approved to treat NAFLD\u2014either NAFL or NASH\u2014in children. Researchers are studying medicines that may improve these conditions.
\n
For safety reasons, talk with your child\u2019s doctor before your child uses dietary supplements\u2014such as mixtures of vitamins, minerals, nutritional supplements, and herbal medicines\u2014or any other complementary or alternative medicines or practices. Some herbal remedies can actually damage a child\u2019s liver.
\n \n
How do doctors treat the complications of NASH?
\n
If NASH leads to cirrhosis, doctors can treat the health problems caused by cirrhosis with medicines, minor medical procedures, and surgery. If cirrhosis leads to liver failure, a child may need a liver transplant.
\n
How can parents and caretakers help prevent NAFLD in children?
\n
Making sure that a child eats a healthy diet, limits portion sizes, and maintains a healthy weight can help prevent NAFLD.
\n \n \n \n
Eating, Diet, & Nutrition
\n
How can a child\u2019s diet help prevent or treat NAFLD?
\n
Eating a healthy diet, limiting portion sizes, and maintaining a healthy weight can help prevent NAFLD in children.
\n
For children with overweight or obesity who have NAFLD, doctors may recommend gradual weight loss. Eating a healthy diet, avoiding beverages that have added sugar, and being more active can help manage weight and improve NAFLD.
\n
\n Eating a healthy diet, limiting portion sizes, and maintaining a healthy weight can help prevent NAFLD in children. \n
\n
If a child has NAFLD, the parent or caretaker should talk with a doctor about the child\u2019s diet. Making sure that children receive proper nutrition is important for growth and development. The doctor may refer the child to a dietitian to help plan a well-balanced diet. Check on the cost of a dietitian\u2019s services and whether your health insurance may pay for some or all of these services.
The NIDDK conducts and supports clinical trials in many diseases and conditions, including liver diseases. The trials look to find new ways to prevent, detect, or treat disease and improve quality of life.
\n
Why are clinical trials with children important?
\n
Children respond to medicines and treatments differently than adults. The way to get the best treatments for children is through research designed specifically for them.
\n
We have already made great strides in improving children\u2019s health outcomes through clinical trials\u2014and other types of clinical studies. Vaccines, treatments for children with cancer, and interventions for premature babies are just a few examples of how this targeted research can help. However, we still have many questions to answer and more children waiting to benefit.
\n
The data gathered from trials and studies involving children help doctors and researchers
\n
\n
find the best dose of medicines for children
\n
find treatments for conditions that only affect children
\n
treat conditions that behave differently in children than in adults
\n
understand the differences in children as they grow
\n
\n
How do I decide if a clinical trial is right for my child?
\n
We understand you have many questions, want to weigh the pros and cons, and need to learn as much as possible. Deciding to enroll in a study can be life changing for you and for your child. Depending on the outcome of the study, your child may find relief from their condition, see no benefit, or help to improve the health of future generations.
\n
Talk with your child and consider what would be expected. What could be the potential benefit or harm? Would you need to travel? Is my child well enough to participate? While parents or guardians must give their permission, or consent, for their children to join a study, the children must also agree to participate, if they are capable (verbal). In the end, no choice is right or wrong. Your decision is about what is best for your child.
\n
The National Institutes of Health (NIH) is committed to ensuring you get all the information you need to feel comfortable and make informed decisions. The safety of children remains the utmost priority for all NIH research studies. For more resources to help decide if clinical trials are right for your child, visit Clinical Trials and You: Parents and Children.
\n
What aspects of NAFLD are being studied in children?
\n
Researchers study many aspects of nonalcoholic fatty liver disease (NAFLD), nonalcoholic fatty liver (NAFL), and nonalcoholic steatohepatitis (NASH), including
\n
\n
understanding how NAFLD begins and progresses in children
\n
identifying genes that play a role in causing NAFLD
\n
improving the diagnosis of NAFLD and NASH in children
\n
\n
Watch a video of NIDDK Director Dr. Griffin P. Rodgers explaining the importance of participating in clinical trials.
\n
\n \n
\n
What clinical studies for NAFLD are available for child participants?
\n
You can view a filtered list of clinical studies on NAFLD in children that are federally funded, open, and recruiting at www.ClinicalTrials.gov. You can expand or narrow the list to include clinical studies from industry, universities, and individuals; however, the NIH does not review these studies and cannot ensure they are safe. If you find a trial you think may be right for your child, talk with your child\u2019s doctor about how to enroll.
\n
What have we learned about NAFLD in children from NIDDK-funded research?
\n
The NIDDK has supported many research projects to learn more about NAFLD and NASH in children. For example, the NIDDK\u2019s NASH Clinical Research Network (NASH CRN) has conducted studies to advance understanding of the causes, development, complications, and treatment of NASH in children and adults.
\n
NASH CRN studies include the Treatment of Nonalcoholic Fatty Liver Disease in Children (TONIC) trial. The TONIC trial found that the natural form of vitamin E\u2014the type of vitamin E that comes from food sources and is not synthetic (laboratory-made)\u2014improved the most severe form of fatty liver disease in some children. More research is needed to determine whether treatment with vitamin E causes long-term risks.
\n
Recent NASH CRN research has explored many aspects of NAFLD and NASH in children, including
\n
\n
the risk of health problems such as abnormal levels of fats in the blood and type 2 diabetes in children with NAFLD
new methods to measure the severity of NAFLD without a liver biopsy
\n
possible treatments for NAFLD and NASH
\n
\n \n \n
This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by NIDDK is carefully reviewed by NIDDK scientists and other experts.
\n
The NIDDK would like to thank: Jeffrey B. Schwimmer, M.D., University of California, San Diego, School of Medicine
Porphyrias are rare disorders that mainly affect the skin or nervous system. These disorders are usually inherited, meaning they are caused by gene mutations passed from parents to children.
\n
If you have porphyria, cells fail to change chemicals in your body\u2014called porphyrins and porphyrin precursors\u2014into heme, the substance that gives blood its red color. When these chemicals build up in your body, they cause illness. Depending on the type of porphyria you have, porphyrins or porphyrin precursors may build up in the liver or the bone marrow. Bone marrow is the spongy tissue inside most of your bones.
\n
What are the types of porphyria?
\n
Experts often divide porphyrias into two groups\u2014acute porphyrias and cutaneous porphyrias\u2014based on whether they primarily affect the nervous system or the skin.
\n
Acute porphyrias
\n
Four types of acute porphyrias affect the nervous system. Two of those types can also affect the skin. Symptoms for acute porphyrias develop over hours or days and last for days or weeks.
Four types of cutaneous porphyrias affect only the skin and cause chronic, or long lasting, symptoms. People with cutaneous porphyria may develop skin symptoms\u2014such as blistering or pain\u2014after their skin is exposed to sunlight.
\n Table 2. Types of cuteaneous porphyria \n
\n \n
\n
Type of Cutaneous Porphyria
\n
Parts of the Body Affected
\n
Where Porphyrins Build Up
\n
\n \n \n
\n
porphyria cutanea tarda
\n
skin
\n
liver
\n
\n
\n
protoporphyrias: erythropoietic protoporphyria and x-linked protoporphyria
\n
skin
\n
bone marrow
\n
\n
\n
congenital erythropoietic porphyria
\n
skin
\n
bone marrow
\n
\n
\n
hepatoerythropoietic porphyria
\n
skin
\n
liver
\n
\n \n
\n
How common are porphyrias?
\n
Porphyrias are rare diseases. Studies suggest that all types of porphyrias combined affect fewer than 200,000 people in the United States.1
\n
The most common type of acute porphyria is acute intermittent porphyria.
\n
The most common type of cutaneous porphyria\u2014and the most common type of porphyria overall\u2014is porphyria cutanea tarda, which affects about 5 to 10 out of every 100,000 people.2
\n
The most common type of porphyria in children is a cutaneous porphyria called erythropoietic protoporphyria.3
\n
Who is more likely to get porphyria?
\n
Acute porphyria is more common in females than in males and often begins when people are between the ages of 15 and 45.4
\n
Among types of cutaneous porphyria, porphyria cutanea tarda most often develops in people older than age 40, usually men.2 For other types of cutaneous porphyria, symptoms often appear in early childhood.
\n
What are the complications of porphyrias?
\n
Different types of porphyrias may lead to different complications.
\n
Liver problems
\n
Several types of porphyrias can cause liver problems. Acute porphyria increases the chance of developing liver cancer. Porphyria cutanea tarda can damage the liver and increase the chance of developing cirrhosis and liver cancer. Some people with protoporphyria also develop liver damage and cirrhosis, and up to 5 percent of people with protoporphyria develop liver failure.5
\n
In people with protoporphyria, bile carries extra porphyrins from the liver to the gallbladder, which may lead to gallstones that are made of porphyrins.
\n
Anemia
\n
Two types of cutaneous porphyria, congenital erythropoietic porphyria and, less commonly, hepatoerythropoietic porphyria, may cause severe anemia. These diseases may also cause the spleen to become enlarged, which can make anemia worse.
Symptoms of acute porphyria can be mild or severe, lasting days or weeks. Times when symptoms occur are called attacks. Without early treatment, symptoms of an attack may become more severe and even life-threatening. Symptoms may include
skin blisters when skin is exposed to sunlight, for people with variegate porphyria or hereditary coproporphyria
\n
\n Symptoms of acute porphyria may include severe pain in the abdomen that lasts for hours to days. \n
Most people with acute porphyria only have one or a few attacks throughout their lives.6 Among people diagnosed with acute porphyria after one attack, about 3 to 5 percent will have four or more attacks in a year.7
\n
Factors that may increase the chance of getting acute porphyria attacks or make attacks worse include female sex hormones, especially progesterone; certain medicines; a lowered intake of carbohydrates; drinking alcohol; and smoking.
\n
Cutaneous porphyrias
\n
In people with porphyria cutanea tarda, congenital erythropoietic porphyria, or hepatoerythropoietic porphyria, areas of skin exposed to sunlight may develop symptoms such as
\n
\n
blisters
\n
fragile skin that is easily wounded and slow to heal
\n
infection of blisters or wounds
\n
scarring or changes in skin color
\n
\n
Protoporphyrias\u2014erythropoietic protoporphyria and x-linked protoporphyria\u2014typically do not cause blisters. Instead, skin exposed to sunlight may develop symptoms such as
\n
\n
pain, burning, stinging, or tingling
\n
redness
\n
swelling
\n
\n
What causes porphyrias?
\n
Most types of porphyrias are caused by gene mutations. Some types of porphyrias result from inheriting a gene mutation from one parent, while other types result from inheriting two gene mutations, one from each parent.
\n
Many people with gene mutations for acute porphyrias never develop the disease. In people who have these gene mutations, factors that increase the chance of developing acute porphyria attacks or make attacks worse include
\n
\n
female sex hormones, especially progesterone
\n
some medicines, including hormonal types of birth control and certain types of antibiotics, anesthetics, and anticonvulsants\u2014medicines designed to treat seizures
\n
lowered intake of carbohydrates, due to fasting, dieting, illness, or weight-loss surgery, also called metabolic and bariatric surgery
\n
drinking alcohol, especially binge drinking, which the National Institute on Alcohol Abuse and Alcoholism defines as having four or more drinks within about 2 hours for women and having five or more drinks within about 2 hours for men
\n
smoking
\n
\n
The most common type of porphyria, porphyria cutanea tarda, is most often acquired, meaning that factors other than inherited genes may cause this condition. These factors may include
\n
\n
a buildup of iron in the body, which may be caused by gene mutations that can lead to hemochromatosis
In some cases, an inherited gene mutation plays a role in causing porphyria cutanea tarda, along with one or more of the factors listed above.
\n
How do doctors diagnose porphyrias?
\n
Your doctor will ask about your medical history and symptoms and perform a physical exam. If a doctor suspects you may have porphyria, he or she will order tests to diagnose the disease.
\n
Tests for porphyria
\n
Tests for porphyria measure the amounts of porphyrins and porphyrin precursors in your blood, urine, or stool and are used to detect porphyria and to monitor the disease. Additional testing may be needed to determine what type of porphyria you have.
\n
Genetic tests
\n
Genetic tests check for the gene mutations that cause porphyrias. The test may help confirm the diagnosis and determine which specific gene mutation you have.
\n
If you have a mutation, your doctor may recommend testing for the same mutation in your family members. If you or family members are considering genetic testing, you may want to consider genetic counseling. Genetic counseling can help you and your family understand how test results may affect your lives.
\n
How do doctors treat porphyrias?
\n
Treatment for porphyria will depend on what type of porphyria you have and how severe your symptoms are.
\n
Acute porphyrias
\n
Doctors most often treat acute porphyria attacks in a hospital. Treatment may include medicines that typically relieve symptoms in 3 or 4 days.4
\n
To prevent future attacks, your doctor may recommend
\n
\n
avoiding medicines that are unsafe for people who have porphyria. Talk with your doctor before you take any over-the-counter or prescription medicines, dietary supplements, or complementary or alternative medicines, such as herbal or botanical medicines.
\n
eating a balanced diet and avoiding fasting or extreme diets.
avoiding heavy alcohol use. Experts recommend no more than one drink per day for women and no more than two drinks per day for men.8
\n
medicines to help reduce the number of future attacks. Some medicines prescribed to reduce the number of attacks can be costly. Talk with your doctor about your health insurance coverage.
\n
\n
In rare cases, doctors may recommend a liver transplant. Doctors only recommend a liver transplant if a person has repeated, severe attacks and other treatments don\u2019t work.
\n
If you have a type of acute porphyria that causes skin symptoms, treatment may include protecting your skin from sunlight.
\n
Cutaneous porphyrias
\n
If you have any type of cutaneous porphyria, your doctor will recommend steps to protect your skin from sunlight. Doctors may prescribe different treatments for different types of cutaneous porphyria.
\n
\n
Doctors typically treat porphyria cutanea tarda either with phlebotomy, which typically involves drawing about a pint of blood every 2 weeks until iron levels in the body have been reduced, or with medicines.9 During treatment, doctors will order regular blood tests to check your iron and porphyrin levels. With treatment, most people go into remission, meaning they don\u2019t have symptoms after their skin is exposed to sunlight and their porphyrin levels return to normal. To help people go into and stay in remission, doctors also recommend avoiding or eliminating factors that can cause porphyria cutanea tarda.
\n
For erythropoietic protoporphyria, doctors may prescribe medicine that allows people with the disease to spend more time in sunlight without pain.
\n
For some children with congenital erythropoietic porphyria who have severe symptoms, doctors may recommend a bone marrow transplant, using healthy stem cells from a donor.
\n
\n If you have any type of cutaneous porphyria, your doctor will recommend steps to protect your skin from sunlight. \n
How do doctors prevent and treat complications of porphyria?
\n
Depending on the type of porphyria you have, your doctor may recommend steps to prevent or treat complications.
\n
Liver problems
\n
For porphyria cutanea tarda, treating the disease can help prevent liver problems.
\n
Porphyria cutanea tarda and acute porphyria can increase the risk of developing liver cancer. Depending on your risk, your doctor may recommend blood tests and an ultrasound or another type of imaging test to check for liver cancer. Finding cancer at an early stage improves the chance of curing the cancer.
\n
In people with protoporphyria, doctors may recommend protecting the liver by avoiding alcohol and getting hepatitis A and hepatitis B vaccines. If protoporphyria leads to liver failure, you may need a liver transplant. In some cases, doctors may also recommend a bone marrow transplant, which can cure protoporphyria and keep the disease from damaging the new liver.
\n
If protoporphyria leads to gallstones, treatment typically involves surgery to remove the gallbladder.
\n
Anemia
\n
People with congenital erythropoietic porphyria or hepatoerythropoietic porphyria who develop severe anemia may require treatment with blood transfusions. In some cases, doctors may also recommend surgery to remove an enlarged spleen, which can help treat anemia.
\n
High blood pressure and kidney problems
\n
If you have acute porphyria, your doctor may check for complications such as high blood pressure and chronic kidney disease, which may lead to kidney failure. Your doctor may prescribe medicines to lower blood pressure and recommend steps to manage chronic kidney disease or treatments for kidney failure.
\n
How do porphyrias affect eating, diet, and nutrition?
\n
If you have acute porphyria, your doctor may recommend a balanced diet in which 60 to 70 percent of your calories come from carbohydrates.8 Lowering your intake of carbohydrates and calories, even for a short time, can cause an acute porphyria attack. Talk with your doctor or a dietitian before changing your diet to try to lose weight. They can help you plan a safe diet to lose weight gradually.
\n
People with cutaneous porphyrias who need to avoid sunlight may have lower levels of vitamin D. Doctors may recommend vitamin D supplements to treat low vitamin D levels.
\n
Clinical Trials for Porphyria
\n
The NIDDK conducts and supports clinical trials in many diseases and conditions, including liver diseases. The trials look to find new ways to prevent, detect, or treat disease and improve quality of life.
\n
What are clinical trials for porphyria?
\n
Clinical trials\u2014and other types of clinical studies\u2014are part of medical research and involve people like you. When you volunteer to take part in a clinical study, you help doctors and researchers learn more about disease and improve health care for people in the future.
\n
Researchers are studying many aspects of porphyria, such as new treatments to prevent acute porphyria attacks or relieve symptoms of cutaneous porphyria. Find out if clinical studies are right for you.
\n
What clinical studies for porphyria are looking for participants?
\n
You can find clinical studies on porphyria at www.ClinicalTrials.gov. In addition to searching for federally funded studies, you can expand or narrow your search to include clinical studies from industry, universities, and individuals; however, the NIH does not review these studies and cannot ensure they are safe. Always talk with your health care provider before you participate in a clinical study.
\n
How is NIDDK- and NIH-funded research advancing the understanding of porphyria?
\n
The NIDDK and the NIH have supported many research projects to learn more about porphyria, including the Porphyrias Consortium of the Rare Diseases Clinical Research Network, an initiative of the Office of Rare Diseases Research, National Center for Advancing Translational Sciences. The Porphyrias Consortium conducts research to advance our understanding of porphyrias and to improve diagnosis and treatment.
\n
References
\n \n
This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by NIDDK is carefully reviewed by NIDDK scientists and other experts.
\n
The NIDDK would like to thank: Herbert L. Bonkovsky, M.D., Wake Forest School of Medicine
Primary biliary cholangitis is a chronic disease in which the small bile ducts in the liver become inflamed and are eventually destroyed. When there are no bile ducts, bile builds up and causes liver damage. Over time, this damage can lead to liver scarring, cirrhosis, and eventually liver failure. Primary biliary cholangitis is believed to be an autoimmune disease in which a person\u2019s own immune system becomes overactive and attacks normal, healthy bile duct cells.
\n
Does primary biliary cholangitis have another name?
\n
Doctors and patients often use the abbreviation PBC for primary biliary cholangitis. The disease used to be called primary biliary cirrhosis.
\n
How common is primary biliary cholangitis?
\n
Researchers estimated that in 2014 about 58 out of every 100,000 U.S. women and about 15 out of every 100,000 U.S. men had primary biliary cholangitis.1
\n
Who is more likely to develop primary biliary cholangitis?
\n
Primary biliary cholangitis is more common in
\n
\n
women than in men.
\n
people who are middle aged. The average age at diagnosis is 60.2
\n
people who are white compared with other racial or ethnic groups.
\n
people who have a parent or sibling\u2014particularly an identical twin\u2014with primary biliary cholangitis.
\n
\n Primary biliary cholangitis is more common in women than in men. \n
What other health problems do people with primary biliary cholangitis have?
\n
People with primary biliary cholangitis may have other autoimmune diseases, including
\n
\n
autoimmune thyroid diseases\u2014conditions in which the immune system attacks the thyroid gland
Primary biliary cholangitis can also damage the liver, leading to liver complications.
\n
Cirrhosis
In \n cirrhosis, scar tissue replaces healthy liver tissue and prevents your liver from working normally. As cirrhosis gets worse, the liver begins to fail. \n
Portal hypertension
\n
Portal hypertension most often occurs when scar tissue in a liver with cirrhosis partly blocks and slows the normal flow of blood, which causes high blood pressure in the portal vein. However, people with primary biliary cholangitis may develop portal hypertension before they develop cirrhosis. When portal hypertension reaches a certain level, it can cause additional complications, such as
\n
\n
swelling in your legs, ankles, or feet, called edema
enlarged veins\u2014called varices\u2014in your esophagus, stomach, or intestines, which can lead to internal bleeding if the veins burst
\n
confusion or difficulties thinking caused by the buildup of toxins in your brain, called hepatic encephalopathy
\n
\n
Liver failure
\n
Cirrhosis may eventually lead to liver failure, also called end-stage liver disease. With liver failure, your liver is badly damaged and stops working. People with liver failure may require a liver transplant.
\n
Liver cancer
\n
Research suggests that people with cirrhosis caused by primary biliary cholangitis, as well as men with primary biliary cholangitis have an increased risk for liver cancer.
\n
References
\n \n \n \n \n
Symptoms & Causes
\n
What are the symptoms of primary biliary cholangitis?
\n
The most common symptoms of primary biliary cholangitis are
\n
\n
feeling tired
\n
itchy skin
\n
\n
Other symptoms may include
\n
\n
discomfort or pain in the upper-right side of your abdomen
Many people have no symptoms when they are first diagnosed with primary biliary cholangitis. Doctors diagnose about 60% of people with primary biliary cholangitis before symptoms begin.3 People with primary biliary cholangitis and no symptoms are identified through blood tests. Some people do not have symptoms for years after they have been diagnosed with primary biliary cholangitis.
\n The most common symptoms of primary biliary cholangitis are feeling tired and having itchy skin. \n
What causes primary biliary cholangitis?
\n
Experts aren\u2019t sure what causes primary biliary cholangitis. Studies suggest that certain genes make some people more likely to develop the disease. In people with these genes, factors in the environment may trigger an autoimmune reaction that causes their immune system to attack the small bile ducts in the liver, causing primary biliary cholangitis.
\n
Possible environmental triggers include
\n
\n
infections
\n
cigarette smoking
\n
exposure to certain chemicals
\n
\n
References
\n \n \n \n \n
Diagnosis
\n
How do doctors diagnose primary biliary cholangitis?
\n
Doctors diagnose primary biliary cholangitis based on your medical and family history, a physical exam, and the results of medical tests.
\n
Medical and family history
\n
Your doctor will ask you about your symptoms. He or she will also ask
whether one of your parents or siblings has been diagnosed with primary biliary cholangitis
\n
whether you have a history of infections and exposure to certain chemicals
\n
\n
Physical exam
\n
Your doctor will examine your body, use a stethoscope to listen to sounds in your abdomen, and tap or press on specific areas of your abdomen. He or she will
\n
\n
look for yellowing of the whites of your eyes and your skin
\n
check to see if your liver and spleen are larger than they should be
\n
check for abdominal tenderness or pain, particularly in the upper-right side of your abdomen
\n
\n
What tests do doctors use to diagnose primary biliary cholangitis?
\n
Blood tests
\n
For a blood test, a health care professional will take a blood sample from you and send the sample to a lab. Your doctor may recommend the following blood tests.
\n
Anti-mitochondrial antibodies (AMA)
\n
Anti-mitochondrial antibodies are found in the blood of about 95% of people with primary biliary cholangitis.4
\n
Liver tests
\n
Liver tests can show abnormal liver enzyme levels, which may be a sign of damage in your liver or biliary tract. Higher-than-normal levels of the liver enzyme alkaline phosphatase occur in people with diseases that destroy or block the bile ducts, such as primary biliary cholangitis.
\n
Your doctor may diagnose primary biliary cholangitis if you have anti-mitochondrial antibodies and higher-than-normal levels of alkaline phosphatase in your blood, even if you have no other signs or symptoms of the disease.
\n
Cholesterol
\n
People with primary biliary cholangitis may have higher-than-normal cholesterol levels.
\n Your doctor may recommend blood tests to diagnose primary biliary cholangitis. \n
Imaging tests
\n
Your doctor may use imaging tests such as x-rays and ultrasounds to help diagnose primary biliary cholangitis by ruling out other causes of bile duct damage, such as gallstones, bile duct strictures, and tumors.
\n
Liver biopsy
\n
During a liver biopsy, a doctor will take small pieces of tissue from the liver. A pathologist will examine the tissue with a microscope. Your doctor may perform a liver biopsy to
\n
\n
rule out other diseases that may be causing your symptoms
\n
confirm the diagnosis of primary biliary cholangitis
\n
determine whether the disease is advanced\u2014as shown by the amount of liver scarring or cirrhosis\u2014or is very active
\n Doctors treat primary biliary cholangitis with medicines. \n
Doctors treat primary biliary cholangitis with medicines. Your doctor may prescribe ursodiol. Although ursodiol does not cure primary biliary cholangitis, it can slow the progression of liver damage. People who respond to ursodiol early in the course of primary biliary cholangitis can live longer without needing a liver transplant.
\n
If you do not respond to ursodiol, your doctor may prescribe obeticholic acid. Although obeticholic acid may improve blood test results, it may worsen symptoms. Obeticholic acid has not been shown to improve the course of illness or prevent cirrhosis. People with cirrhosis should not use obeticholic acid because it can cause worsening of disease.
\n
How do doctors treat the symptoms of primary biliary cholangitis?
\n
Your doctor may recommend over-the-counter medicines or prescribe medicines to treat symptoms of primary biliary cholangitis, such as itchy skin.
\n
How do doctors treat the complications of primary biliary cholangitis?
If you have higher-than-normal blood cholesterol levels, your doctor may prescribe medicines called statins and recommend lifestyle changes.
\n
For osteoporosis, your doctor may prescribe medicines that slow or stop bone loss and improve bone density. Your doctor may recommend dietary supplements of calcium and vitamin D.
\n
For low levels of fat-soluble vitamins, your doctor may recommend dietary supplements of vitamins A, D, E, and K. Follow your doctor\u2019s instructions on the type and amount of vitamins you should take.
\n
If you have dry eyes and dry mouth due to Sj\u00f6gren\u2019s syndrome, you should have regular eye and dental examinations.
\n
\n
Liver complications
\n
Doctors may recommend additional treatments for liver complications of primary biliary cholangitis.
\n
Cirrhosis or portal hypertension
\n
If primary biliary cholangitis leads to cirrhosis or portal hypertension, doctors can treat the health problems related to these conditions with medicines, minor medical procedures, and surgery.
\n
Liver failure
\n
If cirrhosis leads to liver failure, you may need a liver transplant.
\n
Liver cancer
\n
If you have cirrhosis or other risk factors, your doctor may suggest blood tests and an ultrasound or another type of imaging test to check for liver cancer. Finding cancer at an early stage improves the chance of curing the cancer.
\n
When do doctors consider a liver transplant for primary biliary cholangitis?
\n
Your doctor will consider a liver transplant when your primary biliary cholangitis leads to liver failure. Doctors consider liver transplants only after they have ruled out all other treatment options. Talk with your doctor to find out whether a liver transplant is right for you.
\n
What can I do to help prevent further liver damage?
\n
If you have primary biliary cholangitis, you can take steps to help prevent further liver damage. For example, you can
\n
\n
carefully follow your doctor\u2019s instructions and take your medicines and dietary supplements as directed.
What should I eat if I have primary biliary cholangitis?
\n Good nutrition is important in all stages of primary biliary cholangitis. \n
You should eat a healthy, well-balanced diet. Good nutrition is important in all stages of primary biliary cholangitis to help your liver work properly and manage complications.
\n
Your doctor can recommend a healthy eating plan that is well-balanced and provides enough calories and nutrients. Your doctor may recommend that you eat foods high in calcium and vitamin D or take dietary supplements of these nutrients to help prevent osteoporosis. If you have low levels of fat-soluble vitamins A, D, E, or K, your doctor may also recommend supplements of these vitamins. Follow your doctor\u2019s instructions on the type and amount of vitamins you should take.
\n
What foods should I avoid eating if I have primary biliary cholangitis?
\n
You should avoid eating raw or undercooked shellfish, fish, meat, and unpasteurized milk. Bacteria or viruses from these foods may cause severe infections in people with liver disease.
\n
If you have primary biliary cholangitis, your doctor will recommend that you quit smoking and stop drinking alcohol or, at least, limit your intake. If you have primary biliary cholangitis and cirrhosis, you should completely stop drinking alcohol.
\n \n \n \n
Clinical Trials
\n
The NIDDK conducts and supports clinical trials in many diseases and conditions, including liver diseases. The trials look to find new ways to prevent, detect, or treat disease and improve quality of life.
\n
What are clinical trials for primary biliary cholangitis?
\n
Clinical trials\u2014and other types of clinical studies \u2014are part of medical research and involve people like you. When you volunteer to take part in a clinical study, you help doctors and researchers learn more about disease and improve health care for people in the future.
Watch a video of NIDDK Director Dr. Griffin P. Rodgers explaining the importance of participating in clinical trials.
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\n \n
\n
What clinical studies for primary biliary cholangitis are looking for participants?
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You can find clinical studies on primary biliary cholangitis at www.ClinicalTrials.gov. In addition to searching for federally funded studies, you can expand or narrow your search to include clinical studies from industry, universities, and individuals; however, the National Institutes of Health does not review these studies and cannot ensure they are safe. Always talk with your health care provider before you participate in a clinical study.
\n \n \n
This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by NIDDK is carefully reviewed by NIDDK scientists and other experts.
\n
NIDDK would like to thank: John Moore Vierling, M.D., Baylor College of Medicine
Primary sclerosing cholangitis (PSC) is a chronic liver disease in which the bile ducts inside and outside the liver become inflamed and scarred, and are eventually narrowed or blocked. When the bile ducts are narrowed or blocked, bile builds up in the liver and causes further liver damage. This damage can lead to cirrhosis and, eventually, liver failure. Medical experts believe PSC is an autoimmune disease, in which the immune system attacks normal, healthy bile duct cells.
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How common is PSC?
\n
Researchers estimate about 5 to 16 people out of every 100,000 have PSC.1
\n
Who is more likely to develop PSC?
\n
PSC is more commonly diagnosed in people who1,2
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are between the ages of 30 and 40, although PSC may occur at any age.
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are male. PSC affects twice as many males as females.
About 7 out of 10 people who have PSC also have IBD.1
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What are the complications of PSC?
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PSC can lead to liver complications such as cirrhosis, cancers, and bile duct infection.
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Liver complications
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PSC can damage the liver, leading to cirrhosis and its complications.
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Cirrhosis
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In cirrhosis, scar tissue replaces healthy liver tissue and prevents your liver from working normally. As cirrhosis gets worse, the liver begins to fail.
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Portal hypertension
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Portal hypertension most often occurs when scar tissue in the liver slows the normal flow of blood, which causes high blood pressure in the portal vein. The portal vein is the large blood vessel that carries blood from your stomach, intestines, spleen, gallbladder, and pancreas to the liver.
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When portal hypertension reaches a certain level, it can cause additional complications, such as
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swelling in the legs, ankles, or feet, called edema
confusion or difficulty thinking caused by a buildup of toxins in the brain, called hepatic encephalopathy
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Liver failure
\n
Cirrhosis may eventually lead to liver failure, also called end-stage liver disease. With liver failure, your liver is badly damaged and stops working. People with liver failure may require a liver transplant.
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Cancer
\n
PSC can increase the chance of developing certain cancers.
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Bile duct cancer is the most common type of cancer in people who have PSC. People with PSC have a 10% to 20% chance of developing bile duct cancer at some point in their lives.3
People with cirrhosis due to PSC have an increased chance of getting liver cancer.
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People with PSC and IBD have an increased chance of getting colorectal cancer.
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Bile duct infection
\n
People with PSC may develop a bacterial infection in narrowed or blocked bile ducts. Medical procedures that affect the bile ducts, such as endoscopic retrograde cholangiopancreatography, increase the chance of bile duct infection.
Because PSC gets worse slowly, you can have the disease for years before you have any symptoms. Many people have no symptoms when they are first diagnosed with PSC.
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What causes PSC?
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Experts aren\u2019t sure what causes PSC. Studies suggest that several factors may play a role, including
signs that the liver and spleen are larger than they should be
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tenderness or pain in the abdomen
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What tests do doctors use to diagnose PSC?
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Blood tests
\n Liver tests can show abnormal liver enzyme levels in your blood. \n
A health care professional will take a blood sample from you and send the sample to a lab.
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Liver tests can show abnormal levels of liver enzymes and other substances in your blood. Abnormal levels of certain liver enzymes may be a sign your liver or bile ducts are damaged.
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Imaging tests
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To diagnose PSC, doctors typically order a special imaging test to examine the bile ducts, such as
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magnetic resonance cholangiopancreatography (MRCP), which uses a magnetic resonance imaging (MRI) machine to create pictures of the bile ducts. MRCP is the most common test that doctors use to diagnose PSC.
percutaneous transhepatic cholangiography (PTC), which is an x-ray of the bile ducts. A health care professional inserts a needle through the skin and into the liver to inject a special dye into the bile ducts. The special dye lets a doctor see the bile ducts on the x-ray.
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Doctors may also order other imaging tests to check for signs of PSC, other bile duct or liver problems, or complications. These tests include
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ultrasound, which uses a hand-held device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure.
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computed tomography (CT) scans, which uses a combination of x-rays and computer technology to create images of the liver.
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elastography, a special test that measures the stiffness of the liver. Increased liver stiffness may be a sign of fibrosis, or scarring.
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Liver biopsy
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A liver biopsy is generally not needed to diagnose PSC. However, in some cases, doctors may order a liver biopsy to check for signs of other liver diseases, such as autoimmune hepatitis.
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During a liver biopsy, a doctor will take small pieces of tissue from the liver. A pathologist will examine the tissue under a microscope.
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Colonoscopy
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For people who have PSC and haven\u2019t already been diagnosed with IBD, doctors may recommend a colonoscopy to check for IBD. Many people with PSC have mild IBD and don\u2019t have IBD symptoms.
Currently, no cure or effective treatments for primary sclerosing cholangitis (PSC) exist. However, doctors can treat narrowed or blocked bile ducts and symptoms of PSC.
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Narrowed or blocked bile ducts
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If bile ducts are narrowed or blocked, doctors may use endoscopic retrograde cholangiopancreatography (ERCP) to open them and help keep them open. To help keep ducts open, doctors sometimes place stents. Stents are tiny tubes that a doctor leaves in narrowed ducts for a short time to hold them open.
Doctors may recommend over-the-counter medicines or prescribe medicines to treat itchy skin caused by PSC.
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How do doctors treat the complications of PSC?
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Liver complications
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Doctors may recommend treatments for liver complications of PSC.
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Cirrhosis or portal hypertension
\n
If PSC leads to cirrhosis or portal hypertension, doctors can treat the health problems related to these conditions with medicines, medical procedures, or surgery.
PSC increases the risk for developing several types of cancer. Your doctor may recommend tests to check for signs of cancer. Finding cancer at an early stage improves the chance of curing the cancer.
To treat a bile duct infection, doctors may prescribe antibiotics. To help prevent bile duct infections, doctors may prescribe antibiotics for people with PSC before and after they have procedures, such as ERCP, that increase the risk of getting an infection.
For low levels of vitamins A, D, E, and K, doctors may recommend taking dietary supplements of these fat-soluble vitamins. Follow your doctor\u2019s instructions on the type and amount of vitamins you should take.
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For osteoporosis, doctors may prescribe medicines that slow or stop bone loss and improve bone density. Doctors may recommend taking dietary supplements of calcium and vitamin D.
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When do doctors consider a liver transplant for PSC?
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Doctors may consider a liver transplant if PSC leads to liver failure or causes severe symptoms or complications. In some patients with bile duct cancer, liver transplant may be the best treatment. Doctors consider liver transplants only after all other treatment options have failed. Talk with your doctor to find out whether a liver transplant is right for you.
\n Doctors may consider a liver transplant if PSC leads to liver failure. \n
What can I do to prevent further liver damage?
\n
If you have PSC, you can take steps to help prevent further liver damage.
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Follow your doctor\u2019s instructions carefully and take medicines and dietary supplements as directed.
\n Good nutrition is important in all stages of PSC. \n
People with primary sclerosing cholangitis (PSC) should eat a healthy, well-balanced diet. Good nutrition is important in all stages of PSC\u2014including cirrhosis\u2014to help the liver work properly and manage complications.
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Your doctor can recommend a healthy diet that provides enough calories and nutrients. Your doctor may recommend taking dietary supplements of calcium and vitamin D to help prevent osteoporosis. For low levels of fat-soluble vitamins A, D, E, or K, your doctor may recommend taking supplements of these vitamins. Follow your doctor\u2019s instructions on the type and amount of vitamins you should take.
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What should I avoid eating if I have PSC?
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You should avoid eating raw or undercooked shellfish, fish, meat, and unpasteurized milk. Bacteria or viruses from these foods may cause severe infections in people with liver disease.
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Doctors may recommend that people with PSC stop drinking alcohol or, at least, limit their intake. People who have PSC and cirrhosis should completely stop drinking alcohol.
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Clinical Trials
\n
The NIDDK conducts and supports clinical trials in many diseases and conditions, including liver diseases. The trials look to find new ways to prevent, detect, or treat disease and improve quality of life.
\n
What are clinical trials for PSC?
\n
Clinical trials\u2014and other types of clinical studies\u2014are part of medical research and involve people like you. When you volunteer to take part in a clinical study, you help doctors and researchers learn more about disease and improve health care for people in the future.
\n
Researchers are conducting clinical studies to better understand liver diseases, such as primary sclerosing cholangitis (PSC). For example, researchers are studying
Watch a video of NIDDK Director Dr. Griffin P. Rodgers explaining the importance of participating in clinical trials.
\n
\n \n
\n
What clinical studies for PSC are looking for participants?
\n
You can view a filtered list of clinical studies on PSC that are federally funded, open, and recruiting at www.ClinicalTrials.gov. You can expand or narrow the list to include clinical studies from industry, universities, and individuals; however, the NIH does not review these studies and cannot ensure they are safe. Always talk with your health care provider before you participate in a clinical study.
\n \n \n
This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by NIDDK is carefully reviewed by NIDDK scientists and other experts.
\n
The NIDDK would like to thank: Christopher L. Bowlus, M.D., University of California Davis School of Medicine
Wilson disease is a genetic disorder that prevents the body from removing extra copper, causing copper to build up in the liver, brain, eyes, and other organs.
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Your body needs a small amount of copper from food to stay healthy, but too much copper is harmful. Without treatment, Wilson disease can lead to high copper levels that cause life-threatening organ damage.
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How common is Wilson disease?
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Experts are still studying how common Wilson disease is. Older studies suggested that about 1 in 30,000 people have Wilson disease.1 These studies were conducted before researchers discovered the gene mutations that cause Wilson disease.
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Newer studies of people\u2019s genes suggest that Wilson disease may be more common. A study in the United Kingdom found that about 1 in 7,000 people have gene mutations that cause Wilson disease.2
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Experts aren\u2019t sure why gene studies suggest that Wilson disease is more common than previously thought. One reason might be that some people with Wilson disease are not diagnosed. Another reason might be that some people have gene mutations for Wilson disease but don\u2019t develop the disease.
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Who is more likely to have Wilson disease?
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People have a higher chance of having Wilson disease if they have a family history of Wilson disease, especially if a first-degree relative\u2014a parent, sibling, or child\u2014has the disease.
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People who have Wilson disease typically develop symptoms when they are between ages 5 and 40.3 However, some people develop symptoms at younger or older ages. Doctors have found the first symptoms of Wilson disease in infants as young as 9 months and in adults older than 70 years.1,4
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What are the complications of Wilson disease?
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Wilson disease may lead to complications, but early diagnosis and treatment can lower your chances of developing them.
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Acute liver failure
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Wilson disease can cause acute liver failure, a condition in which your liver fails rapidly without warning. About 5 percent of people with Wilson disease have acute liver failure when they are first diagnosed.5 Acute liver failure most often requires a liver transplant.
In cirrhosis, scar tissue replaces healthy liver tissue and prevents your liver from working normally. Scar tissue also partly blocks the flow of blood through the liver. As cirrhosis gets worse, the liver begins to fail.
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Among people who are diagnosed with Wilson disease, 35 to 45 percent already have cirrhosis at the time of diagnosis.6
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Cirrhosis increases your chance of getting liver cancer. However, doctors have found that liver cancer is less common in people who have cirrhosis due to Wilson disease than in people who have cirrhosis due to other causes.
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Liver failure
\n
Cirrhosis may eventually lead to liver failure. With liver failure, your liver is badly damaged and stops working. Liver failure is also called end-stage liver disease. This condition may require a liver transplant.
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References
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Symptoms & Causes
\n
What are the symptoms of Wilson disease?
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The symptoms of Wilson disease vary. Wilson disease is present at birth, but the symptoms don\u2019t appear until the copper builds up in the liver, the brain, or other organs.
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Some people do not have symptoms of Wilson disease before they are diagnosed with the disease and treated. If you do have symptoms, the symptoms may be related to your liver, nervous system and mental health, eyes, or other organs.
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Liver symptoms
\n
People with Wilson disease may develop symptoms of hepatitis, or inflammation of the liver. In some cases, people develop these symptoms when they have acute liver failure. These symptoms may include
yellowish tint to the whites of the eyes and skin, called jaundice
\n
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Some people with Wilson disease have symptoms only if they develop chronic liver disease and complications from cirrhosis. These symptoms may include
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feeling tired or weak
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losing weight without trying
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bloating from a buildup of fluid in the abdomen, called ascites
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swelling of the lower legs, ankles, or feet, called edema
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itchy skin
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jaundice
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Nervous system and mental health symptoms
\n
People with Wilson disease may develop nervous system and mental health symptoms after copper builds up in their body. These symptoms are more common in adults but sometimes occur in children.7 Nervous system symptoms may include
\n
\n
problems with speech, swallowing, or physical coordination
Many people with Wilson disease have Kayser-Fleischer rings, which are greenish, gold, or brownish rings around the edge of the corneas. A buildup of copper in the eyes causes Kayser-Fleischer rings. A doctor can see these rings during a special eye exam called a slit-lamp exam.
\n
Among people who have nervous system symptoms of Wilson disease, more than 9 out of 10 have Kayser-Fleischer rings. However, among people who have only liver symptoms, 5 or 6 out of 10 have Kayser-Fleischer rings.7
\n \n
Other symptoms and health problems
\n
Wilson disease can affect other parts of your body and cause symptoms or health problems, including
Mutations of a gene called ATP7B cause Wilson disease. These gene mutations prevent the body from removing extra copper. Normally, the liver releases extra copper into bile. Bile carries the copper, along with other toxins and waste products, out of the body through the digestive tract. In Wilson disease, the liver releases less copper into bile, and extra copper stays in the body.
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The ATP7B mutations that cause Wilson disease are inherited, meaning they are passed from parent to child. These mutations are autosomal recessive, meaning that a person must inherit two ATP7B genes with mutations, one from each parent, to have Wilson disease. People who have one ATP7B gene without a mutation and one ATP7B gene with a mutation do not have Wilson disease, but they are carriers of the disease.
\n
People can inherent Wilson disease if both parents are carriers who don\u2019t have the disease. The chart below shows the chance of inheriting Wilson disease from parents who are carriers.
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References
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Diagnosis
\n
How do doctors diagnose Wilson disease?
\n
Doctors diagnose Wilson disease based on your medical and family history, a physical exam, an eye exam, and tests.
\n
Medical and family history
\n
Your doctor will ask about your family and personal medical history of Wilson disease and other conditions that could be causing your symptoms.
\n
Physical exam
\n
During a physical exam, your doctor will check for signs of liver damage such as
What tests do doctors use to diagnose Wilson disease?
\n
Doctors typically use blood tests and a 24-hour urine collection test to diagnose Wilson disease. Doctors may also use a liver biopsy and imaging tests.
\n
Blood tests
\n
For a blood test, a health care professional will take a blood sample from you and send the sample to a lab.
\n
Your doctor may order one or more blood tests, including tests that check amounts of
\n
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ceruloplasmin, a protein that carries copper in the bloodstream. People with Wilson disease often have low ceruloplasmin levels, but not always.
\n
copper. People with Wilson disease may have lower than normal blood copper levels. Acute liver failure due to Wilson disease may cause high blood copper levels.
\n
liver enzymes alanine transaminase (ALT) and aspartate transaminase (AST). People with Wilson disease may have abnormal ALT and AST levels.
Doctors may order a blood test to check for the gene mutations that cause Wilson disease if other medical tests don\u2019t confirm or rule out a diagnosis of the disease.
\n
24-hour urine collection test
\n
For 24 hours, you will collect your urine at home in a special container that is copper-free, provided by a health care professional. A health care professional will send the urine to a lab, which will check the amount of copper in your urine. Copper levels in the urine are often higher than normal in people who have Wilson disease.
\n
Liver biopsy
\n
If the results of blood and urine tests don\u2019t confirm or rule out a diagnosis of Wilson disease, your doctor may order a liver biopsy. During a liver biopsy, a doctor will take small pieces of tissue from your liver. A pathologist will examine the tissue under a microscope to look for features of specific liver diseases, such as Wilson disease, and check for liver damage and cirrhosis. A piece of liver tissue will be sent to a lab, which will check the amount of copper in the tissue.
\n
Imaging tests
\n
In people who have nervous system symptoms, doctors may use imaging tests to check for signs of Wilson disease or other conditions in the brain. Doctors may use
medicines that remove copper from the body, called chelating agents
\n
zinc, which prevents the intestines from absorbing copper
\n
\n
In many cases, treatment can improve or prevent symptoms and organ damage. Doctors may also recommend changing your diet to avoid foods that are high in copper.
\n
People who have Wilson disease need lifelong treatment. Stopping treatment may cause acute liver failure. Doctors regularly perform blood and urine tests to check how the treatment is working.
\n
Chelating agents
\n
Penicillamine (Cupramine, Depen) and trientine (Syprine) are two chelating agents used to treat Wilson disease. These medicines remove copper from the body.
\n
Penicillamine is more likely to cause side effects than trientine. Side effects of penicillamine may include fever, rash, kidney problems, or bone marrow problems. Penicillamine may also reduce the activity of vitamin B6, and doctors may recommend taking a vitamin B6 supplement along with penicillamine. In some cases, when people with nervous system symptoms begin taking chelating agents, their symptoms get worse.
\n
When treatment begins, doctors gradually increase the dose of chelating agents. People take higher doses of chelating agents until the extra copper in the body has been removed. When Wilson disease symptoms have improved and tests show that copper is at safe levels, doctors may prescribe lower doses of chelating agents as maintenance treatment. Lifelong maintenance treatment prevents copper from building up again.
\n
Chelating agents may interfere with wound healing, and doctors may prescribe a lower dose of chelating agents for people who are planning to have surgery.
\n
Zinc
\n
Zinc prevents the intestines from absorbing copper. Doctors may prescribe zinc as a maintenance treatment, after chelating agents have removed extra copper from the body. Doctors may also prescribe zinc for people who have Wilson disease but do not yet have symptoms. The most common side effect of zinc is stomach upset.
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How do doctors treat Wilson disease in women who are pregnant?
\n
Pregnant women should continue treatment for Wilson disease throughout pregnancy. Doctors may prescribe a lower dose of chelating agents for women who are pregnant. Since the fetus needs a small amount of copper, lowering the dose may keep copper at safe levels without removing too much copper.
\n
In most cases, doctors recommend that women continue to take the full dose of zinc during pregnancy. Experts recommend that women with Wilson disease do not breastfeed if they are taking chelating agents. Penicillamine is present in breast milk and can be harmful to a baby. Experts have little information about the safety of trientine and zinc in breast milk.
\n
How do doctors treat the complications of Wilson disease?
\n
If Wilson disease leads to cirrhosis, doctors can treat health problems and complications related to cirrhosis with medicines, surgery, and other medical procedures.
\n
If Wilson disease causes acute liver failure or liver failure due to cirrhosis, you may need a liver transplant. A liver transplant cures Wilson disease in most cases.
\n
Can I prevent Wilson disease?
\n
You can\u2019t prevent Wilson disease. If you have a first-degree relative\u2014a parent, sibling, or child\u2014with Wilson disease, talk with your doctor about testing you and other family members for the disease. A doctor may be able to diagnose and begin treating Wilson disease before symptoms appear. Early diagnosis and treatment can reduce or prevent organ damage.
\n \n \n \n \n
Eating, Diet, & Nutrition
\n
What should I avoid eating if I have Wilson disease?
\n
When you start treatment for Wilson disease, your doctor may recommend avoiding foods that are high in copper, such as
\n
\n
chocolate
\n
liver
\n
mushrooms
\n
nuts
\n
shellfish
\n
\n
After treatments have lowered your copper levels and you begin maintenance treatment, talk with your doctor about whether you can safely eat moderate amounts of these foods.
\n
If your tap water comes from a well or runs through copper pipes, have the copper levels in your water checked. Water sitting in copper pipes may pick up copper. Run the water to flush the pipes before you drink the water or use it for cooking. You may need to use a water filter to remove copper from your tap water.
\n
For safety reasons, talk with your doctor before using dietary supplements, such as vitamins, or any complementary or alternative medicines or medical practices. Some dietary supplements may contain copper.
\n \n \n \n \n
Clinical Trials
\n
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and other components of the National Institutes of Health (NIH) conduct and support research into many diseases and conditions, including liver diseases.
\n
What are clinical trials for Wilson disease?
\n
Clinical trials\u2014and other types of clinical studies\u2014are part of medical research and involve people like you. When you volunteer to take part in a clinical study, you help doctors and researchers learn more about disease and improve health care for people in the future.
\n
Researchers are conducting clinical studies to better understand liver diseases, such as Wilson disease.
Watch a video of NIDDK Director Dr. Griffin P. Rodgers explaining the importance of participating in clinical trials.
\n
\n \n
\n
What clinical studies for Wilson disease are looking for participants?
\n
You can view a filtered list of clinical studies on Wilson disease that are federally funded, open, and recruiting at www.ClinicalTrials.gov. You can expand or narrow the list to include clinical studies from industry, universities, and individuals; however, the NIH does not review these studies and cannot ensure they are safe. Always talk with your health care provider before you participate in a clinical study.
\n
How is NIDDK- and NIH-funded research advancing the understanding of Wilson disease?
\n
The NIDDK and other components of the NIH support basic research to increase our understanding of Wilson disease and lay the foundation for future advances in diagnosis and treatment. Research topics include
\n
\n
understanding how copper is absorbed from the intestines, handled by tissues including brain and liver tissues, and then removed from the body
\n
understanding how the gene mutations in Wilson disease lead to copper not being properly removed and building up in the brain, liver, red blood cells, and kidneys
\n
developing better tests that doctors could use to check for Wilson disease in all infants at birth
\n
developing better treatments for Wilson disease and better ways to check copper levels in the blood and liver
\n
developing gene therapy for Wilson disease that might keep copper in the body at safe levels without the need for a special diet or lifelong treatment with chelating agents
\n
\n \n \n
This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. NIDDK translates and disseminates research findings to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by NIDDK is carefully reviewed by NIDDK scientists and other experts.
\n
The NIDDK would like to thank: Valentina Medici, M.D., University of California, Davis
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