Caroli syndrome

Caroli syndrome (also known as Caroli disease with congenital hepatic fibrosis) is a rare congenital disorder characterized by segmental, non-obstructive, saccular or fusiform dilatation of the intrahepatic bile ducts combined with congenital hepatic fibrosis. It is distinguished from Caroli disease (simple type), which involves bile duct dilatation alone without hepatic fibrosis. Caroli syndrome primarily affects the hepatobiliary system and is associated with the ductal plate malformation, a developmental abnormality of the intrahepatic bile ducts. It is most commonly linked to autosomal recessive polycystic kidney disease (ARPKD) and mutations in the PKHD1 gene. Key clinical features include recurrent episodes of bacterial cholangitis (infection of the bile ducts), intrahepatic stone formation (hepatolithiasis), and complications of portal hypertension secondary to congenital hepatic fibrosis, such as splenomegaly, esophageal varices, and gastrointestinal bleeding. Patients may also develop renal abnormalities, particularly renal cystic disease consistent with ARPKD. The stagnation of bile within the dilated ducts predisposes to stone formation and recurrent infections, which can lead to sepsis and liver abscesses. There is also a long-term increased risk of cholangiocarcinoma (bile duct cancer). Management of Caroli syndrome is primarily supportive and aimed at preventing and treating complications. This includes antibiotic therapy for cholangitis episodes, ursodeoxycholic acid to improve bile flow, and endoscopic or surgical interventions for stone removal. Portal hypertension complications may require endoscopic variceal management or portosystemic shunting. In severe or progressive cases, liver transplantation remains the only curative treatment option and may be considered especially when recurrent cholangitis is refractory to medical therapy or when cholangiocarcinoma is suspected. Early diagnosis and multidisciplinary follow-up involving hepatologists, surgeons, and nephrologists are essential for optimal patient outcomes.

Common questions about Caroli syndrome