Progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis, usually shortened to PFIC, is a group of inherited liver conditions in which defects in the transporters of the bile duct lining stop bile flowing normally. It usually first shows in early childhood, most often before the age of two, with jaundice, failure to thrive and intense itching, and it tends to progress to cirrhosis. Four types are recognised: type 1, also called Byler disease, from changes in ATP8B1; type 2, from changes in ABCB11 and the bile salt export pump; type 3, from changes in ABCB4 and the MDR3 protein; and type 4, from changes in TJP2. All forms described so far are autosomal recessive, and consanguinity is thought to be a major risk factor. Treatment starts with supportive care for the cholestasis and itching, including ursodeoxycholic acid, cholestyramine and rifampin, and partial external biliary diversion is a surgical option. Without liver transplantation the disease commonly ends in liver failure in childhood.