Caroli disease

(congenital cystic dilatation of the intrahepatic biliary tree, congenital communicating cavernous ectasia of the intrahepatic biliary tract)

An inherited disorder with ectasia (dilatation) of the bile ducts within the liver.

It is the choledochal cysts Type V (Todani classification).

It is associated with autosomal recessive polycystic kidney disease (ARPKD), cholangitis, gallstones, biliary abscess, sepsis, liver cirrhosis, kidney failure, and cholangiocarcinoma.
ARPKD is associated with a group of congenital fibrocystic syndromes. Mutations in the PKHD1 (chromosomal locus 6p12.2) cause ARPKD and Caroli syndrome.
It is expressed primarily in the kidneys with lower levels in the liver, pancreas, and lungs, which primarily affects the liver and kidneys.
Females are more vulnerable than males.

The ductal plate originates from hepatocytes surrounding the intrahepatic portal vein branches. Further differentiation during fetal life results in the formation of small tubules, which coalesce to form the intrahepatic biliary tree. Failure of differentiation or malformation leads to the disease.

(Types)
• Caroli disease (simple type): Dilatation of larger intrahepatic bile ducts. Focal.
• Caroli syndrome (periportal type): Combination of small bile ducts dilatation and congenital hepatic fibrosis. Diffuse.

(Treatment)
• Cholangitis: Antibiotics.
• Hepatolithiasis: Ursodeoxycholic acid.
• Cholelithiasis: Ursodiol.
• Monolobar case: Surgical resection.
• Diffuse case: Conservative or endoscopic therapy, internal biliary bypass procedures, and liver transplantation.