Caroli's disease is a rare congenital disorder characterized by multifocal, segmental dilatation of the large intrahepatic bile ducts. It may present at any age and predominantly affects females. The exact prevalence is unknown but less than 250 cases have been described worldwide. Caroli's disease is characterized by bile ductal ectasia without other apparent hepatic abnormalities. It presents with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. The more common variant of this disease, named Caroli's syndrome, is characterized by dilatations of the large bile duct associated with congenital hepatic fibrosis. Patients with Caroli syndrome have significant hepatic fibrosis and may present with signs and symptoms of portal hypertension or bacterial cholangitis. Hepatomegaly, splenomegaly, esophageal varices, and gastrointestinal hemorrhage may be present. It may be seen in association with autosomal-recessive polycystic kidney disease, autosomal-dominant polycystic kidney disease, medullary sponge kidney, and medullary cystic disease. The etiology of Caroli's disease is unknown and its occurrence is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner. Diagnosis involves imaging studies (ultrasonography, computed tomography, or magnetic resonance cholangiography). In doubtful cases, direct cholangiography and liver biopsy are needed. Cases of prenatal diagnosis based on ultrasonographic findings have been reported. Management depends on the clinical presentation, localization, and stage of the disease. It may be conservative (antibiotics, ursodeoxycholic acid, biliary drainage) and surgical (including, ultimately, liver transplantation). Prognosis is variable and determined by the frequency and severity of the episodes of cholangitis, the presence of associated diseases, and the increased risk of bile duct cancer.
Last update: October 2006
- Pr Dominique-Charles VALLA