Familial intrahepatic cholestatic cirrhosis with positive antimitochondrial antibody - Familial primary biliary cirrhosis

We present three siblings (out of four) with intrahepatic cholestatic disea se and cirrhosis. Two of the siblings, a 33-year-old woman and a 34-year-ol d man had advanced liver disease-with the liver histology showing establish ed cirrhosis with chronic cholestasis and excess copper accumulation. Both died two years later due to hepatic encephalopathy. The third sibling, a 37 -year-old man on routine check-up was found to have abnormal liver function s. The liver biopsy showed marked bile ductular proliferation with bridging fibrosis, reduction in interlobular bile ducts, and excess copper accumula tion. The presence of antimitochondrial antibody in the serum in 1 in 320 d ilutions in all three patients and 1 in 80 dilutions in the oldest healthy sibling and hypergammaglobulinemia in all the siblings confirmed the diagno sis of Familial primary biliary cirrhosis. Antinuclear and smooth muscle an tibodies were not present. Clinical and biochemical improvement has been no ted in the third sibling after therapy with ursodeoxycholic acid.