J Pediatr Gastroenterol Nutr 1994 Feb;18(2):134-41

Clinical and biochemical findings in progressive familial intrahepatic cholestasis

Department of Pediatrics, University of Chicago Pritzker School of Medicine,
Illinois.

Whitington PF, Freese DK, Alonso EM, Schwarzenberg SJ, Sharp HL

Abstract
The clinical findings in 33 patients with progressive familial intrahepatic
cholestasis (PFIC) are presented. Symptoms developed almost invariably before 6
months of age with severe pruritus and moderate jaundice. Other clinical
findings included wheezing and nosebleeds, fat-soluble vitamin deficiency
states, and cholelithiasis. Lower values for gamma-glutamyl transpeptidase,
averaging 15 IU/L before the administration of phenobarbital, and cholesterol,
which averaged 156 mg/dl, are helpful in distinguishing PFIC from other
pediatric cholestatic liver diseases. Autosomal recessive inheritance is
probable. Twenty-six patients are alive at 12.9 +/- 6.7 years of age, all having
had successful surgical treatment, either partial biliary diversion (n = 17) or
orthotopic liver transplantation (n = 10). Seven patients died at a mean age of
3.9 +/- 2.4 years, as a result of liver failure in two, hepatocellular carcinoma
in two, and complications of liver transplantation in three.