Progressive Familial Intrahepatic Cholestasis: A Rare Cause of Cirrhosis in Young Adult Patients

Abstract EN

Hepatic cirrhosis is an important cause of morbidity and mortality.

An unusual case of cirrhosis and portal hypertension in an 18-year-old patient secondary to Progressive Intrahepatic Cholestasis is discussed.

The clinical and biochemical findings are discussed and a clinical approach to determining the underlying etiology of cirrhosis is outlined.

Significant complications of portal hypertension include ascites, spontaneous bacterial peritonitis, hepatorenal syndrome, varices, and hepatic encephalopathy.

A clinical approach to these complications of cirrhosis is presented.

Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare congenital metabolic abnormality.

There are 3 subtypes and Type 3 PFIC commonly presents in late adolescence and early adulthood.

Clinical and laboratory findings as well as management for the condition are described.