Progressive familial intrahepatic cholestasis in Malaysian patients--a report of five cases.

Progressive familial intrahepatic cholestasis (PFIC) is characterized by early onset cholestasis, progressive liver cirrhosis, pruritus, poor growth and inexorable progression to liver cirrhosis in early childhood. The serum level of gamma-glutamyl transferase is low or normal, which is discordant with severe cholestasis. Five Malaysian patients with PFIC, who all had typical features of PFIC with early onset of severe and progressive cholestasis, pruritus, cirrhosis and liver failure, were described. Three patients died as a result of the disease, while another one died due to post-liver transplant complication. The only survivor has compensated liver cirrhosis. Patients with severe cholestasis but has spuriously low yGT should be suspected of having PFIC. Liver transplant, which is life-saving in a majority of patients with PFIC, should be considered in all patients with PFIC.