Rare Gastroenterology News

Disease Profile

Autoimmune hepatitis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Adult

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ICD-10

K75.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Autoimmune chronic hepatitis; AIH

Categories

Autoimmune / Autoinflammatory diseases; Digestive Diseases

Summary

Autoimmune hepatitis is a disease in which the body’s immune system attacks liver cells. This immune response causes inflammation of the liver, also called hepatitis. The disease can be quite serious and, if not treated, gets worse over time, leading to cirrhosis of the liver and/or liver failure. Autoimmune hepatitis likely results from a combination of autoimmunity, environmental triggers, and a genetic predisposition. It occurs more frequently in females. Treatment typically includes corticosteroids and medications that suppress the immune system. In severe cases, a liver transplant may be needed.[1][2]

Symptoms

Signs and symptoms in people with autoimmune hepatitis range from mild to severe depending on the amount of liver damage present. Symptoms are generally due to scarring of liver tissue (cirrhosis). Some people have no symptoms at first and are diagnosed after being evaluated for another health problem.[3] Some of the most common signs and symptoms in people with autoimmune hepatitis may be nonspecific and include:[1][2][3][4]

  • Fatigue (the most common symptom reported).
  • Nausea.
  • Loss of appetite.
  • Diarrhea.
  • Jaundice (yellowing of the skin and whites of the eyes).

Other signs and symptoms that may develop as the disease progresses include:[1][2][3][4]

  • Loss of brain function (hepatic encephalopathy).
  • Fluid in the abdomen (ascites).
  • Swelling of the legs (edema).
  • Easy bruising and bleeding.
  • An enlarged spleen (splenomegaly).
  • Gallstones.
  • Itchy skin (pruritis) or skin rashes.
  • Joint pain.
  • Vomiting.
  • Dark urine.
  • Pale or gray-colored stools.
  • Absence of menstrual periods in women (amenorrhea).

Some symptoms a person experiences may be due to other underlying heath conditions or autoimmune diseases that are associated with autoimmune hepatitis.[1][2][3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Increased circulating IgG level
0003237
80%-99% of people have these symptoms
Anti-liver cytosolic antigen type 1 antibody positivity
0030909
Antineutrophil antibody positivity
0003453
Antinuclear antibody positivity
0003493
Elevated hepatic transaminase
High liver enzymes
0002910
Liver kidney microsome type 1 antibody positivity
0030908
Smooth muscle antibody positivity
0003262
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Arthralgia
Joint pain
0002829
Chronic fatigue
Chronic extreme exhaustion
0012432
Depressivity
Depression
0000716
Spider hemangioma
0012522
5%-29% of people have these symptoms
Acute hepatitis
Acute liver inflammation
0200119
Anxiety
Excessive, persistent worry and fear
0000739
Arthritis
Joint inflammation
0001369
Ascites
Accumulation of fluid in the abdomen
0001541
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Diffuse hepatic steatosis
0006555
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Glomerulonephritis
0000099
Increased total bilirubin
High bili total
0003573
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Sclerosing cholangitis
0030991
Splenomegaly
Increased spleen size
0001744
Thyroiditis
Thyroid gland inflammation
0100646
Ulcerative colitis
0100279
Vitiligo
Blotchy loss of skin color
0001045
1%-4% of people have these symptoms
Fulminant hepatitis
0004787
Hepatocellular carcinoma
0001402
Viral hepatitis
0006562

Cause

The underlying cause of autoimmune hepatitis is not known. It is possible that any of several genetic or environmental factors (such as medications or viral infections) may trigger the disease.[1][3] People with another autoimmune disease or a family history of autoimmune disease may be more likely to develop autoimmune hepatitis.[5]

Symptoms of autoimmune diseases in general are caused by the body's immune system mistakenly attacking healthy tissues and cells. In the case of autoimmune hepatitis, the body's immune system attacks healthy liver tissue, ultimately damaging the liver.

Diagnosis

The diagnosis of autoimmune hepatitis is typically made based on a person's signs and symptoms, medical history, various blood tests, and a liver biopsy.[1] Blood tests may be able to tell autoimmune hepatitis apart from viral hepatitis, or from other health problems that cause similar symptoms. A liver biopsy can confirm the diagnosis and determine the extent of liver damage.[5] Sometimes a person with no symptoms is suspected of having the disease after a routine health exam or when being evaluated for another health problem.[3]

Treatment

Treatment for autoimmune hepatitis should be managed by a hepatologist, which is a doctor who specializes in liver disease.[6] Treatment aims to suppress the immune system, which is overactive in people with this disease. In many cases, especially when the disease is diagnosed early, treatment can slow the progression of the disease and may reverse some of the liver damage that has already occurred. People who have no symptoms or have a very mild form of the disease may not need treatment.[1] A hepatologist may evaluate symptoms and use various laboratory tests to determine when a person should begin treatment.[6]

Medications that may be used initially ("induction therapy") include :[1][6]

  • Corticosteroids (such as prednisone).
  • Azathioprine (often in combination with corticosteroids).
  • Other immune system suppressants particularly when treatment with corticosteroids and azathioprine is not effective or causes severe side effects. Examples include mycophenolate mofetil, cyclosporine, or tacrolimus.

Most people go into remission with initial treatment within two to three years. This means that their symptoms improve, and laboratory tests show that liver function is improving. In some cases, people who achieve remission can taper off medications for a period of time.[6] However, relapses are common, and many people need long-term management ("maintenance therapy") to keep the disease under control.[3][6] Maintenance therapy may involve long-term use of much lower doses of prednisone or azathioprine, which are effective in controlling the disease is most people.[6]

Some people do not respond to treatment or cannot continue treatment due to side effects.[6] If the disease progresses and causes severe cirrhosis and liver failure, a liver transplant may be needed.[1] About 10-20% of people with autoimmune hepatitis eventually need a liver transplant.[3]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Mayo Clinic has an information page on Autoimmune hepatitis.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • The National Digestive Diseases Information Clearinghouse (NIDDK) offers information on this condition. Click on the link to view information on this topic.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Autoimmune hepatitis. Click on the link to view a sample search on this topic.

          References

          1. Autoimmune Hepatitis. National Digestive Diseases Information Clearinghouse (NDDIC). March 2014; https://www.niddk.nih.gov/health-information/health-topics/liver-disease/autoimmune-hepatitis/Pages/facts.aspx.
          2. Phillips MM. Autoimmune hepatitis. MedlinePlus. August, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/000245.htm.
          3. Wolf DC. Autoimmune Hepatitis. Medscape Reference. September 25, 2017; https://emedicine.medscape.com/article/172356-overview.
          4. Symptoms of Liver Failure. American Liver Foundation. https://he123.liverfoundation.org/what-is-he/liver-failure-symptoms/. Accessed 1/9/2018.
          5. Autoimmune hepatitis. Mayo Clinic. August 4, 2017; https://www.mayoclinic.org/diseases-conditions/autoimmune-hepatitis/symptoms-causes/syc-20352153.
          6. Heneghan MA. Autoimmune hepatitis: Treatment. UpToDate. Waltham, MA: UpToDate; September 27, 2017; https://www.uptodate.com/contents/autoimmune-hepatitis-treatment.

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