Caroli disease is a rare congenital condition characterized by saccular dilatation of the large intrahepatic bile ducts. It is caused by mutations in genes responsible for autosomal recessive polycystic kidney disease. Clinical manifestations vary depending on the age of onset and degree of hepatic or renal involvement, and can include biliary stones, bacterial cholangitis, and sepsis. Diagnosis is typically made through imaging studies showing cystic dilation of the proximal bile ducts. Treatment focuses on managing complications through supportive care or liver transplantation for recurrent cholangitis. Prognosis is variable depending on disease severity and any associated renal dysfunction.

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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