Initially, episodes of severe cholestasis
followed by intervals of good health. Pruritus is typically severe (more than the
degree of bilirubinemia). Evolution is characterized by growth retardation,
hepatomegaly, and then cirrhosis, hepatic failure, and death early during the
childhood if not treated. Hepatocellular carcinoma may be present at age 2 years.
Consequences of cholestasis (neurological anomalies caused by vitamin E
deficiency, skin excoriations because of pruritus, rickets because of
vitamin D deficiency, epistaxis as a result of coagulopathy or
thrombocythemia). Pancreatic anomalies in type II may be present. In type
III, symptoms appear later with a slower evolution. Jaundice is less visible
and pruritus less intense.