117 Primary biliary cirrhosis
Salient features
Examination
• Usually occurs in middle-aged women
• Xanthelasma (may occur at any stage but more common in advanced disease)
Remember: There may be clinical features of other autoimmune diseases such as rheumatoid arthritis, dry mouth of Sjögren syndrome, systemic sclerosis, CREST syndrome (p. 553), Hashimato’s thyroiditis, dermatomyositis.
• Check for proximal muscle weakness from osteomalacia.
• Examine for peripheral neuropathy.
• Tell the examiner that you would like to test for high serum levels of alkaline phosphatase and anti-mitochondrial antibodies (AMA; present in 95% of the patients, with the M2 antibody being more specific; it is almost always negative in extrahepatic obstruction).
Advanced-level questions
How does primary biliary cirrhosis present?
Asymptomatic with normal liver tests. Antibodies to pyruvate dehydrogenase complex (AMA) is detectable and about three-quarters develop symptoms of primary biliary cirrhosis (PBC) in 2 years and 83% developed abnormal liver function tests at median period of 5 years from first detection of AMA (Lancet 1996;348:1399–1402). Most patients have liver histology compatible with, or diagnostic for, PBC. In one series, none had died from liver disease 12 years after AMA detection (J Hepatol 1994;20:707–13).
Symptomless with abnormal liver tests. Circulating AMA are present. More than 50% have established fibrosis at diagnosis. Up to 80% of patients develop symptoms or signs of PBC during the first 5 years of follow-up. The median time from diagnosis to death is 8–12 years.
