IS case 510: Caroli disease
Imaging Sciences URMC 2010
Publication Date: 2010-09-10
Caroli disease, or communicating cavernous ectasia of the intrahepatic bile ducts, is an autosomal recessive disorder resulting from the arrest of or derangement in the normal embryologic remodeling of bile ducts. This leads to varying degrees of destructive inflammation and segmental dilatation ranging from a few millimeters to a few centimeters. If large intrahepatic bile ducts are affected, the result is Caroli disease. However, abnormal development of the small interlobular bile ducts results in congenital hepatic fibrosis. If all levels of the biliary tree are involved, features of both congenital hepatic fibrosis and Caroli disease are present. This condition has been termed Caroli syndrome.
Common clinical issues include recurrent attacks of cholangitis, fever, and jaundice. The disease is frequently associated with renal tubular ectasia and tends to manifest in adolescence, although it may be seen in infants and newborns. Calcium bilirubinate stone formation is common (95%) and cholangiocarcinoma is seen in 7% of patients. Long-term prognosis is poor. Treatment options for localized disease include lobectomy or segmentectomy. Diffuse disease may be treated conservatively, by decompressing the biliary system (external drainage or with biliary-enteric anastomosis), with shockwave lithotripsy, oral bile salts, or transplantation.
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