Caroli's syndrome

Caroli’s disease and Caroli’s syndrome are biliary tree disorders in which small cysts alternate with narrowed segments of the bile ducts. These abnormalities may be present throughout the liver, or limited to a small area. They are more common in adults and more likely to occur in women.

Caroli’s disease, which occurs in the main bile ducts, is less common than Caroli’s syndrome although both are very rare. In Caroli’s syndrome the small bile ducts are also malformed and congenital hepatic fibrosis occurs.

Caroli’s syndrome is generally inherited, whereas Caroli’s disease is not. As with congenital hepatic fibrosis, Caroli’s syndrome is often associated with autosomal recessive polycystic kidney disease (ARPKD).

People with Caroli’s disease and Caroli’s syndrome may have cholangitis, portal hypertension and, as with people who have choledochal cysts, are at much higher risk of developing cholangiocarcinoma.

The symptoms are usually abdominal pain and, very rarely, jaundice. Complications from portal hypertension may cause vomiting of blood (haematemesis) and blood in your faeces (maelena). Bleeding comes from burst or ruptured varices. If the bile becomes infected, you may develop fever, abdominal pain and, rarely, jaundice. This complication can first appear in childhood or may not occur until middle age.

Doctors will be looking for bile duct abnormalities and evidence of fi brosis. LFTs, imaging and liver biopsy may all be used in diagnosis.

Radiologists will scan the bile ducts using ultrasound, CT and MRCP. ERCP and another invasive technique called percutaneous transhepatic cholangiography (PTC) may also be used. With PTC, a thin needle is passed through your skin and through the liver into a bile duct. A dye is injected so that the biliary tree becomes outlined on X-ray. This picture will show any narrowing or blockages.

If severe cholangitis is suspected, a liver biopsy may also be carried out. During a liver biopsy a fine hollow needle is passed through the skin into the liver and a small sample of liver tissue is withdrawn for study. This is usually done after a local anaesthetic has been given and is usually carried out as day surgery.

Treatment may be required if you have recurrent or severe cholangitis. This can involve reconstructive surgery to improve the flow of bile. If you have developed gallstones, these may be removed by an ERCP procedure.

A medication made from naturally occurring bile acids called ursodeoxycholic acid (URSO) may also be given to sooth any complications arising from gallstones.