Caroli Disease

Overview

Type of disease: Rare conditions

Caroli disease is a rare disorder characterized by uncommon widening of the tube like structures in the liver called bile ducts. The condition can begin at any age and is most commonly seen in females. Symptoms include, recurrent bacterial infections and formation of small stones in the bile duct that can cause pain and inflammation of the pancreas. In some cases the kidneys may also be affected by a condition called polycystic kidney disease.

Caroli syndrome is a more common type of Caroli disease. In Caroli syndrome the individual also has an abnormal liver, specifically hepatic fibrosis, at birth. Individuals with Caroli disease or syndrome are at a greater risk for bile duct cancer than individuals who do not have this condition. The exact cause for Caroli disease is unknown. In most cases, it is believed to result from a spontaneous genetic change (mutation) that occurs for unknown reasons.

Diagnosis can be made by using clinical tests to exam the liver; such as, ultrasound, CT, and/or MRI scans.
Treatment depends on the severity of the condition. Medications and antibiotics are options that may be used in mild cases. Surgery and liver transplant are treatment options for severe disease. If you or your child has been diagnosed with Caroli disease, talk to your doctor for current treatment options.

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