Congenital hepatic fibrosis, Caroli’s disease, and polycystic kidney disease


Congenital hepatic fibrosis and Caroli’s disease are rare genetic disorders that can develop from early childhood onwards.

In congenital hepatic fibrosis, the liver is gradually filled with fibrotic bands that make it difficult for blood to flow through the liver. This results in portal hypertension, which is associated with a risk of bleeding in the digestive tract (oesophageal varices).

In Caroli’s disease, abnormal dilatation of the bile ducts means that bile is transported out of the liver more slowly than normal. The patient may develop jaundice (yellowing of the skin). In addition, the bile ducts may become infected. As these infections (cholangitis) are often severe, they require long-term intravenous treatment. If they recur, liver transplantation may become necessary

Caroli’s disease and congenital hepatic fibrosis may exist in isolation, but may also be associated with other disorders, mainly in connection with dominant or recessive polycystic kidney disease. In this case, cysts – that may or may not be associated with the liver disease – develop in the kidneys. Symptoms may only affect the kidneys (with blood in the urine and decreased renal function that is no longer able to eliminate harmful substances from the organism), may only affect the liver, or may affect both systems.

If portal hypertension is too severe, if there are recurrent infections, or if there is hepatic impairment, liver transplantation is the treatment of choice. If kidney damage is too severe, kidney transplantation may also be suggested in the case of cystic disease.

Dr. Nathalie Rock
Octobre 2014