Primary biliary cirrhosis (PBC) is an autoimmune disease of the liver that causes scarring, fibrosis and finally cirrhosis. PBC is found most frequently in women between the ages of 35 and 60.
The inflammation starts with a slowly progressing destruction of the small bile ducts in the liver, then proceeds to the whole organ, leading to cholestasis, cirrhosis, and liver failure. Patients usually are asymptomatic at presentation but may experience fatigue or have symptoms of cholestasis (eg., steatorrhea or pruritus) or cirrhosis (eg., ascites, portal hypertension).
Laboratory tests may reveal cholestasis and increased IgM level. Characteristically, more than 90% of the PBC patients will have high levels of antimitochondrial antibodies (AMA) in the serum, especially of the M2 subtype (AMA-M2). PBC diagnosis is supported by detection of centromere antibodies, Sp100 antibodies and gp210 antibodies, particularly when AMA-M2 test is negative. Liver biopsy may be necessary for diagnosis and staging.