FaCD Online Syndrome Fact Sheet

Last updated: 05 May 2009

Name: Caroli disease

Synonym: Caroli syndrome

Mode of Inheritance: AD?/ multifact?/ AR?

OMIM number: 600643  

Tumor features

intrahepatic cholangiocarcinoma

Non-tumor features

congenital dilatation of intrahepatic bile ducts
congenital hepatic fibrosis
cystic dilatations of intrahepatic bile ducts


This disorder is characterized by congenital polycystic dilatation of the intrahepatic bile ducts[1] It is frequently associated with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (in the latter case called Caroli syndrome[2]) suggestive of a genetic overlap/ allelism. There exists a marked predisposition to the development of cholangitis and liver abscesses. The clinical course can be asymptomatic for the first 5 to 20 years. Cholangiocarcinoma in the intrahepatic cystic lesions has been reported in approximately 7% of cases[3-6].


[1] Tsuchida Y, Sato T, Sanjo K, Hata K, Terawaki K, Suzuki I, Hawarasaki H, Idezuki Y, Nakagome Y, Shiraki K. Evaluation of long-term results of Caroli's disease: 21 years observation of a family with autosomal "dominant"inheritance, and review of the literature. Hepatogastroenterology 1995; 42:175-181.
[2] Ribeiro A, Reddy RK, Bernstein D, Jeffers L, Schiff ER. Caroli's syndrome in twin sisters. Am J Gastroenterol 1996; 91(5):1024-1026.
[3] Dayton MT, Longmire WP, Jr., Tompkins RK. Caroli's disease: a premalignant condition? Am J Surg 1983; 145:41-48.
[4] Totkas S, Hohenberger P. Cholangiocellular carcinoma associated with segmental Caroli's disease. European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2000; 26(5):520-1.
[5] Takatsuki M, Uemoto S, Inomata Y, Egawa H, Kiuchi T, Hayashi M, Ueda M, Tanaka K. Living-donor liver transplantation for Caroli's disease with intrahepatic adenocarcinoma. Journal of hepato-biliary-pancreatic surgery 2001; 8(3):284-6.
[6] Kasper HU, Stippel DL, Töx U, Drebber U, Dienes HP.[Primary cholangiocarcinoma in a case of Caroli's disease: case report and literature review][Article in German]. Pathologe. 2006 Jul;27(4):300-4