Caroli Disease, Caroli Syndrome, and Congenital Hepatic Fibrosis

The cystic diseases of the liver are mostly autosomal recessive disorders with variable intrahepatic biliary dilatation and increased hepatic fibrosis either as part of the underlying defect or as a result of liver damage from recurrent episodes of ascending cholangitis. Caroli disease (CD) denotes congenital saccular intrahepatic dilatation of the biliary tree. Caroli syndrome (CS) is a more common disorder in which the bile duct dilatation is associated with congenital hepatic fibrosis (CHF). The clinical manifestations of CS are related to the biliary abnormalities and portal hypertension. Recurrent bacterial cholangitis, liver abscesses, intra- and extrahepatic stones, and increased risk of cholangiocarcinoma are the main complications of CD and CS. Treatment is supportive and directed toward treating the biliary tract infections and the complications of portal hypertension. Surgical treatment consists of liver resection or liver transplantation. The prognosis of CD and CS is variable depending on the severity of the disease, the presence of portal hypertension, and the presence of coexisting renal disease. CHF is a hereditary developmental malformation that belongs to the family of hepatic ductal plate malformation (DPM), which resulted from persistence of excess embryonic bile duct structures in the portal tracts. It may be associated with other liver malformations such as in CS and it is usually associated with autosomal recessive polycystic kidney disease (ARPKD). The identification of the gene for ARPKD, PKHD1 (polycystic kidney and hepatic disease 1) had shown that most cases of ARPKD with CHF are genetically homogeneous. Clinically, symptoms vary and different manifestations of CHF have been described such as portal hypertensive CHF, cholangitic CHF, combined portal hypertensive and cholangitic CHF, and latent forms of CHF. Therapy of CHF depends on the clinical manifestation of the disease. Treatment is largely supportive and it is directed toward treating biliary tract infection and the complications of portal hypertension. Liver transplantation is indicated in patients with recurrent uncontrolled cholangitis and in patients with end-stage liver disease.