Carolis syndrome, also known as Caroli disease or Caroli's triad, is a rare genetic disorder characterized by hepatic fibrosis and polycystic dilation of the intrahepatic bile ducts. It is named after Jacques Caroli, the French physician who first described the condition in 1958.
The syndrome is usually present from birth but may also develop later in life. It is believed to be caused by a defect in the development of the bile ducts during embryogenesis. As a result, the bile ducts become malformed, dilated, and filled with cysts, leading to impaired bile flow and subsequent liver damage.
Patients with Carolis syndrome often exhibit symptoms such as abdominal pain in the upper right quadrant, hepatomegaly (enlarged liver), recurrent cholangitis (infection of the bile ducts), and jaundice. These symptoms may vary in severity depending on the extent of liver damage and the presence of complications such as gallstones, cirrhosis, or cholangiocarcinoma (bile duct cancer).
Diagnosis of Carolis syndrome typically includes imaging techniques such as ultrasonography, magnetic resonance cholangiopancreatography (MRCP), or computed tomography (CT) scan. Liver biopsy may be performed to confirm the diagnosis and assess the severity of liver involvement.
Treatment options for Carolis syndrome are mainly aimed at addressing the complications and improving symptoms. This may involve antibiotics to manage recurrent infections, surgical interventions like liver transplantation or partial hepatectomy, and symptomatic management measures to alleviate pain or pruritus (itching). Genetic counseling may also be offered to affected individuals and their families due to the hereditary nature of this syndrome.
