Caroli disease and Caroli syndrome
in children
Caroli disease and Caroli syndrome are rare, genetic conditions that affect the larger bile ducts inside and outside the liver. The two conditions are often grouped together because they share some features. But there are also some differences.
The information on this page is for:
- Parents of children with Caroli disease or Caroli syndrome.
- Young people with Caroli disease or Caroli syndrome.
- Family, friends, carers, and healthcare professionals.
On this page:
What are Caroli disease and Caroli syndrome?
Caroli disease and Caroli syndrome are both rare, genetic conditions. They affect the larger bile ducts that can be found inside and outside the liver. The two conditions are often grouped together because they share some features. But there are also some differences.
Caroli disease
Caroli disease happens in around 1 in every 1 million births. It usually happens at random, but it has been known to run in families.
The main features of Caroli disease are:
- cysts inside the larger bile ducts within the liver
- widening (dilation) of the larger bile ducts inside the liver
If the bile ducts become too wide, bile can collect and cause swelling and infection. This is known as cholangitis. The swelling stops bile from getting out of the liver. If the bile builds up, it can form stones. Often, these stones won’t cause problems. In a small number of people, they can block the bile duct and cause symptoms.
Caroli syndrome
Caroli syndrome is more common than Caroli disease. It happens in around 1 in every 100,000 births.
Caroli syndrome and Caroli disease share a key feature. In both conditions, children are born with cysts and widening of the bile ducts inside the liver.
But Caroli syndrome has some differences. This condition also features congenital hepatic fibrosis. This means that children with Caroli syndrome have scarring and stiffening of the liver. They also have the symptoms and complications associated with CHF. This includes portal hypertension.
Children and young people with Caroli syndrome may also develop cysts on their kidneys. This is why Caroli syndrome is often linked with autosomal recessive polycystic kidney disease (ARPKD). In this genetic condition, multiple cysts develop in the kidneys.
How are Caroli disease and Caroli syndrome diagnosed?
Tests used to help with the diagnosis may include:
- physical examination
- blood tests
- genetic tests
- abdominal ultrasound scan
- magnetic resonance imaging (MRI) / magnetic resonance cholangiopancreatography (MRCP)
- endoscopy (if portal hypertension is suspected)
What are the symptoms of Caroli disease and Caroli syndrome?
The symptoms of Caroli disease and Caroli syndrome can appear at any age. But symptoms are most likely to appear in teenagers and young adults.
Symptoms are usually linked to bile duct infection (cholangitis) and the development of gallstones (cholelithiasis).
Symptoms may include:
- high temperature (fever)
- tummy (abdominal) pain
- yellowing of the whites of the eyes and skin (jaundice)
- being sick (vomiting)
If your child has Caroli syndrome, there may also be signs of portal hypertension. Extra symptoms may include:
- enlarged spleen (splenomegaly)
- tummy (abdominal) pain
- vomiting blood (haematemesis)
- black, “tarry” poo (stools)
What are the possible complications of Caroli disease and Caroli syndrome?
Possible complications include:
- repeated infection of the bile ducts (cholangitis)
- narrowing of the bile ducts (strictures)
- liver abscesses
- infection of the bloodstream (septicaemia)
- stones in the bile ducts (cholelithiasis)
- liver failure
- slightly increased risk of developing bile duct cancer (cholangiocarcinoma)
Extra complications in Caroli syndrome may include:
- portal hypertension
- ascites
How are Caroli disease and Caroli syndrome treated?
There are no cures or specific treatments for Caroli disease and Caroli syndrome. Medical care focuses on reducing symptoms and managing complications. Treatment varies from child to child depending on the severity of symptoms.
Treatments for portal hypertension and its complications may include:
- endotherapy to treat swollen blood vessels in the food pipe
- medication to help reduce blood pressure in the portal vein
- transjugular intrahepatic portosystemic shunt (TIPS)
- liver transplant
Treatments for bile duct infection (cholangitis) and its complications may include:
- antibiotics injected into a vein (intravenous antibiotics)
- draining fluid from cysts (cyst aspiration)
- endoscopic retrograde cholangiopancreatography (ERCP) to treat narrow or blocked bile ducts
- percutaneous transhepatic cholangiogram (PTC) to treat narrow or blocked bile ducts
- liver transplant when there is repeated bile duct infection (cholangitis) or severe sepsis
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This content was last reviewed: February 2025
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We would like to thank everyone who helped with creating and reviewing this page. This information has been produced with input from the three specialist paediatric liver centres in the UK. And with parents and families.
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Everyone’s experience of liver disease will be different. Always talk to your specialist medical team for personal advice.
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