Caroli syndrome

carol disease and syndrome

1. Caroli disease Ahmed Abdulghany

2. In 1958, Jacques Caroli first described a rare congenital condition in which there was a non-obstructive saccular dilatation of large intrahepatic bile ducts. Caroli Syndrome: more common variable in which bile duct dilatation is associated with congenital hepatic fibrosis

3. Genetics Incompletely understood however gene for autosomal recessive polycystic kidney disease has been linked to caroli disease coding for Fibrocystin .

4. Clinical manifestations There are several modes of presentations depending on the age of onset and predominance of hepatic or renal involvement. Biliary dilation predispose to biliary stagnation and stone formation. Bacterial cholangitis occur frequently and may be complicated by septicemia.

5. Diagnosis Established by imaging studies (US & MRCP) showing irregular, cystic dilation of proximal intrahepatic bile ducts with normal common bile duct.

6. Liver functions show mild cholestatic pattern Liver biopsy is rarely required for diagnosis

7. Differential diagnosis 1ry biliary cirrhosis 1ry sclerosing cholangitis Drug induced cholestasis Intrahepatic cholestasis of pregnancy Sarcoidosis Amyloidosis Infiltrating neoplasms

8. Treatment Supportive Complications as cholangitis and portal hypertension Liver transplantation for recurrent cholangitis

9. Prognosis Variable depending upon severity of the disease and presence of coexisting renal dysfunction. Although risk of cholangiocarcinoma is up to 7%, surveillance is unclear. Suspect if there is unexplained clinical deterioration or development of new biliary strictures.

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