Congenital hepatic fibrosis belongs to the fibrocystic diseases of the liver and represents ductal plate malformation of interlobular bile ducts, along with a destructive cholangiopathy associated with
fibrosis. Four patients with
congenital hepatic fibrosis are described. Their median age at presentation was 25 years; none of them had a family history of liver or renal disease. Variceal
bleeding was the initial manifestation in three patients. All of them required frequent endoscopic variceal
ligation sessions and distal splenorenal shunting was also performed in two, almost obviating the need for further variceal
ligation. Variceal
bleeding did not recur during follow-up. One of these three patients rarely exhibited acute
cholangitis; administration of
ursodeoxycholic acid resulted
in complete remission. In contrast, the fourth patient showed frequent severe episodes of acute
cholangitis but normal cholangiographic findings. He underwent
liver transplantation but died 2 months later. Laboratory findings disclosed
pancytopenia in all patients whereas hepatic synthetic capacity was well preserved. Renal function was unaffected despite the presence of
polycystic kidneys in two patients. In summary,
congenital hepatic fibrosis can also be diagnosed in older ages, might have strikingly different manifestations and is associated with prominent
portal hypertension necessitating aggressive management in order to prevent variceal
bleeding.