What is Caroli Disease

Caroli Disease is a rare genetic disorder that affects the bile ducts in the liver. It is characterized by the presence of multiple cysts or dilations within the bile ducts, which can lead to various complications.

The exact cause of Caroli Disease is not fully understood, but it is believed to be inherited in an autosomal recessive manner, meaning that both parents must carry the gene mutation for their child to develop the condition.

Symptoms of Caroli Disease can vary depending on the severity of the condition. They may include abdominal pain, jaundice (yellowing of the skin and eyes), recurrent infections, and liver enlargement.

Diagnosis of Caroli Disease typically involves imaging tests such as ultrasound, CT scan, or MRI to visualize the bile ducts and confirm the presence of cysts. Genetic testing may also be performed to identify specific gene mutations.

Treatment options for Caroli Disease depend on the individual's symptoms and complications. In some cases, surgery may be necessary to remove the affected portion of the liver or to create new pathways for bile flow.

Regular monitoring and management of complications such as infections and liver function are important for individuals with Caroli Disease.