Article, Non peer-reviewed
Caroli disease is a rare inherited disorder involving segmental dilatation of large, intra-hepatic bile ducts which appear as cysts on imaging and histopathologic exam. The gene involved is the same gene that is responsible for autosomal recessive polycystic kidney disease (ARPKD); hence, it is commonly seen in conjunction. It is usually diagnosed during adolescence, and patients present with recurrent episodes of cholangitis. Treatment is supportive with antibiotics and if indicated, endoscopic treatment with endoscopic retrograde cholangiopancreatography (ERCP) for obstruction or impaction. This condition can frequently lead to congenital hepatic fibrosis (CHF), at which point it is called Caroli syndrome, the more common variant.
Umar J, John S. Caroli Disease. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jul 3.