Caroli's disease history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

• Patients often present in young adulthood

• 80% present before 30 years of age.

• Cholangitis

• Patients often present with recurrent episodes of fever/chills and abdominal pain due to cholangitis.

• Biliary lithiasis

• Occurs in about a third.

• Portal HTN and Varices

• Occasionally patients will present later in life with sequelae of liver disease and portal HTN.

• Ductal rupture

• Has been described with intrahepatic as well as extrahepatic bile duct cysts. This can result in peritonitis.

• Liver abscess

• Can occur in association with the intrahepatic cysts, abnormal biliary flow, cholangitis, and/or stone disease.

• Malignancy

• Is more common in the affected tissues, including cancer of the gall bladder, biliary tree, and liver.
• This often occurs in patients ~50 years of age, about 2 decades before the mean age of carcinoma in the general population, and at a much higher rate (~7%) than the general population.
• The reason for this increase in carcinoma is not clear, but may occur in association with pancreatic/biliary regurgitation.
• Removal of cysts does not necessarily reduce the risk.
• Once malignancy develops, prognosis is dismal.

• Renal tubular ectasia or renal cystic disease

• More common in these patients.