Caroli disease is a condition characterized by an abnormal widening of the intrahepatic bile ducts (the ducts that carry bile from the liver) and renal cysts. People affected by this condition experience recurrent episodes of cholestasis, stone development in the bile ducts, and bacterial cholangitis. In addition to the symptoms of Caroli disease, people affected by Caroli syndrome may also experience liver fibrosis and portal hypertension (high blood pressure of the portal vein). Although the underlying cause of Caroli disease and Caroli syndrome are poorly understood, they are thought to be genetic conditions. Caroli disease generally occurs sporadically in people with no family history of the condition; however, rare reports exist of autosomal dominant inheritance in association with autosomal dominant polycystic kidney disease. Caroli syndrome is generally inherited in an autosomal recessive manner and is frequently seen in association with autosomal recessive polycystic kidney disease. Treatment is based on the signs and symptoms present in each person.

In addition to the symptoms outlined above, people affected by Caroli syndrome may also experience liver fibrosis and portal hypertension (high blood pressure of the portal vein). Portal hypertension can be associated with vomiting blood, bloody stools, and ascites. Caroli syndrome is often associated with an inherited condition called autosomal recessive polycystic kidney disease.

People affected by Caroli disease and Caroli syndrome may also have an increased risk of developing cholangiocarcinoma.

Caroli syndrome, on the other hand, is often associated with autosomal recessive polycystic kidney disease, a condition caused by mutations in the PKHD1 gene. However, the exact number of cases of Caroli syndrome linked with PKHD1 mutations is not known.

Caroli syndrome, on the other hand, generally follows an autosomal recessive pattern of inheritance. It is often seen in association with autosomal recessive polycystic kidney disease.

People who have recurrent infections, especially those who also have complications related to portal hypertension, may require liver transplantation.

The long-term outlook for people with Caroli disease and Caroli syndrome is variable and determined by the frequency and severity of the episodes of cholangitis; the presence of associated diseases; and the increased risk of bile duct cancer.