Table 2.

Characteristics of progressive familial intrahepatic cholestasis

Disease	Relevant clinical aspects	Laboratory findings	Chromosome
PFIC1	Early jaundice and increasing pruritus. Extrahepatic clinical manifestations: chronic diarrhea, pancreatitis, deafness. Early cirrhosis and liver transplantation in the first years of life	GGT: Normal ALP: high Cholesterol: ↑	18q21-q22
PFIC2	Early jaundice. Progression to cirrhosis and ductopenia in the first years of life. Frequent cholelithiasis. Possible complications include liver and bile duct cancer. No extrahepatic symptoms. Liver transplantation in the first years of life	GGT: Normal ALP: v. high Cholesterol: ↑	2q24
PFIC3	Variable phenotype and progression to cirrhosis in adolescence. Cholelithiasis. Liver transplantation in the first years of life. No extrahepatic symptoms	GGT: High ALP: v. high Cholesterol: normal	7q21

PFIC: Progressive familial intrahepatic cholestasis; GGT: Gamma-glutamyl transferase; ALP: Alkaline phosphatase.