FaCD Online Syndrome Fact Sheet

Last updated: 05 May 2009

Name: Caroli disease

Synonym: Caroli syndrome

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

Tumor features

intrahepatic cholangiocarcinoma

Non-tumor features

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

Comment

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].

References

[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