Rare Gastroenterology News

Spotlight On

Autoimmune Hepatitis

Autoimmune hepatitis is a chronic disease of unknown cause, characterized by continuing hepatocellular inflammation and necrosis, with a potential to progress to cirrhosis


24 / 100 000


US Estimated


Europe Estimated

Age of Onset





Autosomal dominant


Autosomal recessive




X-linked dominant


X-linked recessive


Rare View

Autoimmune hepatitis (AIH) is a severe liver disease that affects both children and adults. AIH arises in genetically predisposed individuals when a trigger, such as exposure to a virus, leads to a T cell-mediated autoimmune response directed against liver autoantigens. Females are 3x likely to be affected.


5 Facts you should know



Autoimmune hepatitis may present completely asymptomatic (12–35% of the cases), with signs of chronic liver disease, or acute or even fulminant hepatic failure



Common initial symptoms include fatigue or muscle aches or signs of acute liver inflammation including fever, jaundice, and right upper quadrant abdominal pain



The disease may occur in any ethnic group and at any age, but is most often diagnosed in patients between age 40 and 50



Anomalous presentation of MHC class II receptors on the surface of liver cells, causes a cell-mediated immune response against the body's own liver, resulting in autoimmune hepatitis



Virtually all patients have increased circulating IgG levels

Autoimmune Hepatitis is also known as...

Autoimmune Hepatitis

AIH, lupoid hepatitis

What’s your Rare IQ?

Which gender is more likely to have Autoimmune hepatitis?

Common signs & symptoms

Increased circulating IgG level

Anti-liver cytosolic antigen type 1 antibody positivity

Antineutrophil antibody positivity

Antinuclear antibody positivity

Elevated hepatic transaminase

High liver enzymes

Liver kidney microsome type 1 antibody positivity

Smooth muscle antibody positivity


Joint pain

Current treatments

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]

Top Clinical Trials

At the time this analysis was conducted, there were no treatments in development for this disease.

Top Treatments in Research

At the time this analysis was conducted, there were no interventional clinical studies being conducted.

† Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 https://rarediseases.info.nih.gov