Caroli's disease

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Rinky Agnes Botleroo, M.B.B.S.

Caroli disease is a rare inherited disorder characterized by dilatation of the intrahepatic bile ducts. There are two types of Caroli disease, the most common being the simple, or isolated case where the bile ducts are widened by ectasia. The second, more complex, cause is commonly known as Caroli Syndrome. This complex form is also linked with portal hypertension and congenital hepatic fibrosis. ^[1] The differences between the causes of the two cases have not yet been discovered. Caroli disease is also associated with liver failure and polycystic kidney disease. ^[2]

Caroli disease also is known as communicating cavernous ectasia, or congenital cystic dilatation of the intrahepatic biliary tree. Caroli disease is distinct from other diseases that cause ductal dilatation caused by obstruction, in that it is not one of the many choledochal cyst derivatives. ^[1]

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Vachel and Stevens were the first to describe a case of cystic dilatation of the intrahepatic bile ducts in 1906, but Jacques Caroli in 1958 gave a more thorough description of a syndrome of congenital malformation of the intrahepatic ducts with segmental cystic dilatation, increased biliary lithiasis, cholangitis and liver abscesses, associated with renal cystic disease or tubular ectasia. He described it as “nonobstructive saccular or fusiform multi-focal segmental dilatation of the intra-hepatic bile ducts”; basically, he observed cavernous ectasia in the biliary tree causing a chronic, often life-threatening hepatobiliary disease. ^[1]

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Rinky Agnes Botleroo, M.B.B.S.

• Two subtypes of Caroli’s disease have been described:

• Simple type

• As classically described, without cirrhosis or portal hypertension
• 60-80% associated with medullary sponge kidney

:* Periportal fibrosis type

• Also associated with:

• Congenital hepatic fibrosis – bland portal fibrosis, hyperproliferation of interlobular bile ducts within the portal areas, with variable shapes and size of bile ducts, and preservation of normal lobular architecture.
• Cirrhosis
• Portal hypertension (HTN)
• Esophageal varices
• Renal cystic lesions also often occur

• Hepatic function is preserved in most, but many patients have recurrent cholangitis, liver abscesses and portal hypertension.

• The cysts are nonobstructive saccular or fusiform dilatations of the intrahepatic ducts.
• The disease may be unilobed or bilobed. Unilobed disease is most commonly localized to the left lobe of the liver.
• Some reviews have reported that pure Caroli’s disease is not that common, and more patients actually have Type IVA disease, with both intra- and extra-hepatic cysts.
• Intrahepatic biliary cystic disease should be differentiated from polycystic liver disease, an autosomal dominant disorder characterized by cystic collections of serous fluid not in communication with the biliary tree.
• The incidence of malignant transformation in intrahepatic cysts is ~7% in Caroli’s disease.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

• Biliary cysts have been described throughout the biliary system, and are classified according to their location and anatomy.
• Many biliary cysts are congenitally acquired, perhaps as a consequence of unequal proliferation of epithelial cells during embryonic biliary duct development. Some biliary cysts are acquired, and some may develop in association with anatomic variations that lead to abnormally high ductal pressures in association with other predisposing factors.
• Type I (75-85%)

• Choledochal cysts – cystic dilatation of the common bile duct (CBD)
• Often presents during infancy with significant liver disease.

• Type II (2-3%)

• Diverticulae anywhere in the extrahepatic ducts.
• Presenting symptoms’s may reflect cystic compression of nearby structures.

• Type III (1-5%)

• Choledochocele cysts
• Often present with pain and obstructive jaundice; many have pancreatitis.

• Type IV (18-20%)

• IVA – Multiple cysts in the Intra- and Extra-hepatic ducts
• IVB – Multiple cysts in the Extra-hepatic ducts only

• Type V – Caroli’s Disease – rare

• Single or Multiple Intrahepatic bile duct cysts

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Rinky Agnes Botleroo, M.B.B.S.

The root cause of Caroli disease and Caroli syndrome are poorly understood till now, but it is thought to be genetic conditions. It is not usually associated with any family history and can occur sporadically in an individual. However, there are some rare evidence available that states it is autosomal dominant inheritance in association with autosomal dominant polycystic kidney disease ^[1]. Caroli syndrome is generally an autosomal recessive disorder and is often seen in association with autosomal recessive polycystic kidney disease^[2]

The simple form is an autosomal dominant trait while the complex form is an autosomal recessive trait.^[3]Family history may include kidney and liver disease due to the link between Caroli Disease and ARPKD. PKHD1, the gene linked to ARPKD, has been found mutated in patients with Caroli syndrome. PKHD1 is expressed primarily in the kidneys with lower levels in the liver, pancreas, and lungs, a pattern consistent with phenotype of the disease, which primarily affects the liver and kidneys.^[3] The genetic basis for the difference between Caroli disease and Caroli syndrome has not been defined.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Biliary cysts are often not listed in the differential diagnosis of biliary obstruction (note their conspicuous absence from my report on cholangitis), so they are often not thought of until they are found at surgery or during imaging procedures.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

• The disease is uncommon, with about 180 cases reported in the literature.

• The disease affects about 1 in 1,000,000 people, with more reported cases of Caroli syndrome than of Caroli disease.

• Biliary cysts are more common in Japan and in young women.

• Females are more prone to Caroli disease than males.

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