Table 1.

Clinical, Biochemical and Histological Features of Different Types of PFIC.

Feature	PFIC1	PFIC2	PFIC3
Age at presentation	Infancy	Neonatal period-early infancy	Late Infancy (∼30%) to early adulthood
End stage liver disease	First decade	Rapid, first few years	1st to 2nd decade of life
Course of disease	Moderately severe	Severe	Insidious
Pruritus	Severe	Very severe	Moderate
Extrahepatic manifestations (watery diarrhoea, pancreatitis, sensorineural deafness, short stature, abnormalities in sweat chloride)	Present	Absent	Absent
Risk of development of liver tumors	No	High	Mild increase
Risk of cholesterol stone disease	Absent	Increased	Increased
Serum ALT	Mild elevation	Moderate elevation	Mild elevation
Serum AFP	Normal	Raised	Normal
Serum GGT	Normal	Normal	Elevated
Serum bile acids	Raised ++	Raised +++	Raised +
Bile composition
Primary bile acids	Low (3–8 mM)	Very low (<1 mM)	Normal
Phospholipids	Normal	Normal	Low
Liver histology	Bland cholestasis, mild lobular fibrosis	Cholestasis, giant cell hepatitis, hepatocellular necrosis, portal fibrosis	Bile ductular proliferation, inflammatory infiltrate, and biliary fibrosis
Electron microscopy	Granular bile	Amorphous bile	–

PFIC: progressive familial intrahepatic cholestasis; GGT: gamma glutamyl transpeptidase; AFP: alpha fetoprotein; ALT: alanine aminotransferase.