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Disease Profile
Autoimmune hepatitis
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
Age of onset
Adult
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Autoimmune chronic hepatitis; AIH
Categories
Autoimmune / Autoinflammatory diseases; Digestive Diseases
Summary
Autoimmune hepatitis is a disease in which the body’s
Symptoms
- 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
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 |
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 |
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
Symptoms of autoimmune diseases in general are caused by the body's
Diagnosis
Treatment
Medications that may be used initially ("induction therapy") include :[1][6]
Corticosteroids (such asprednisone ).- 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
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
-
Autoimmune Hepatitis Association (AIHA)
702 Rotary Circle
Indianapolis, IN 46202
E-mail: https://www.aihep.org/contact-us.html
Website: https://www.aihep.org/
Organizations Providing General Support
-
American Association for the Study of Liver Diseases
1001 North Fairfax, 4th floor
Alexandria, VA 22314
Telephone: 703–299–9766
Fax: 703–299–9622
E-mail: [email protected]
Website: https://www.aasld.org/ -
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.org/ -
American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
Toll-free: +1-800-465-4837 (Helpline)
Telephone: +1-212-668-1000
E-mail: https://liverfoundation.org/for-patients/contact-us/
Website: https://liverfoundation.org/
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
- 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.
- Phillips MM. Autoimmune hepatitis. MedlinePlus. August, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/000245.htm.
- Wolf DC. Autoimmune Hepatitis. Medscape Reference. September 25, 2017; https://emedicine.medscape.com/article/172356-overview.
- Symptoms of Liver Failure. American Liver Foundation. https://he123.liverfoundation.org/what-is-he/liver-failure-symptoms/. Accessed 1/9/2018.
- Autoimmune hepatitis. Mayo Clinic. August 4, 2017; https://www.mayoclinic.org/diseases-conditions/autoimmune-hepatitis/symptoms-causes/syc-20352153.
- Heneghan MA. Autoimmune hepatitis: Treatment. UpToDate. Waltham, MA: UpToDate; September 27, 2017; https://www.uptodate.com/contents/autoimmune-hepatitis-treatment.
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