Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The rare disease that we will be learning about today is:

Autoimmune Hepatitis

Formerly called plasma cell hepatitis or autoimmune chronic active hepatitis.

What is Autoimmune Hepatitis?

• Autoimmune hepatitis is a disease that causes liver inflammation.
• As the name implies, it is an autoimmune illness which causes symptoms similar to other forms of hepatitis.
  • An abnormal immune response results in the immune system attacking liver cells
• The illness is usually detected by abnormal appearance of the liver during abdominal surgery, increased protein levels, and unusual liver function tests
• Autoimmune hepatitis was first described in the 1950s. It was initially called lupoid hepatitis as many of the first patients identified had other forms of autoimmune illness, such as lupus.
  • The disease tends to overlap with many other autoimmune conditions as well, such as autoimmune thyroiditis, type 1 diabetes, vasculitis, ulcerative colitis, and celiac disease.
• There are three different types of autoimmune hepatitis
  • Type 1 autoimmune hepatitis
  • Autoantibodies present can include:
    • Anti-smooth muscle antibody (65 percent of cases)
    • Atypical perinuclear anti-neutrophil cytoplasmic antibodies
    • Anti-double stranded DNA (30 percent of cases)
    • Anti-soluble liver antigen/liver pancreas antibody antigen (20 percent of cases)
    • Antinuclear antibody
    • Anti-actin antibody
  • Type 2 autoimmune hepatitis
  • Autoantibodies present can include:
    • Anti-liver cytosol antibody-1
    • Liver Kidney Microsomal antibody
  • Autoantibody negative autoimmune hepatitis
  • While no autoantibodies are detected, the disease otherwise presents similarly to the other forms and responds to treatment.

How Do You Get It?

• The direct cause of autoimmune hepatitis isn’t completely understood
• Common theories suggest that several different factors may converge in order to cause the disease, such as genetic predisposition, failure of the native immune system (resulting in chronic inflammation of liver cells), and an environmental trigger (viral infection, certain herbs or drugs, immunizations)
• Autoimmune hepatitis is associated with the presence of anti-smooth muscle autoantibodies.
• The autoimmune mechanism results from the appearance of MHC class II receptors on the surface of liver cells, which triggers an immune response against the liver.
• Women are affected at high rates than men
• Patients tend to be diagnosed at two different age ranges: late teens to early 20s and between age 40 and 50.

What Are The Symptoms?

• In up to 35 percent of cases, autoimmune hepatitis may not present with any symptoms even though signs of liver failure or chronic liver disease are present.
• Generally the presentation includes one or more symptoms that are often nonspecific, such as:
  • Upper right abdominal pain
  • Fatigue
  • Joint pain
  • Lethargy
  • Jaundice
  • Weight loss
  • Itching
  • Nausea
  • Malaise
  • Fever (less common)
  • Rash (less common)
  • Absence of menstruation
  • Cirrhosis
• Patients appear to be at increased risk of mental illness, such as schizophrenia and bipolar disorder, later in life.

How Is It Treated?

• Factors that influence the treatment approach include the severity of symptoms, liver biopsy findings, antibody and liver enzyme levels, and the ability of the patient to handle treatment side effects.
• In asymptomatic patients with normal biopsy results, liver enzymes, and antibody levels, treatment is not usually recommended as the risk of progression is very low.
• When symptoms are present, immune suppressants such as prednisone are a common choice. This treatment can relieve acute symptoms in up to 80 percent of cases, but most patients will eventually experience relapse. It is sometimes combined with azathioprine in less tolerant patients.
• Budesonide also appears to be effective in inducing relapse, but more evidence is needed.
• Other immune suppressants may be tried if the patient doesn’t respond to the above therapies, such as:
  • Methotrexate
  • Mycophenolate
  • Tacrolimus
  • Ciclosporin
• In severe cases where liver failure is imminent, a liver transplant may be necessary.
• Without treatment, ten year survival is around 50 percent. Effective treatment increases ten year survival to 90 percent.
  • Still, patients have a lower transplant-free survival than the general population
  • Five year survival is over 80 percent in patients that undergo transplant
  • African-American patients tend to have more aggressive disease and worse outcomes

Where Can I Learn More???

• Learn more about this disease from the National Organization for Rare Disorders.
• Check out our cornerstone on this disease here.