What is Caroli's disease (Congenital Dilatation of Intrahepatic Bile Ducts)?

From the Guidelines

Caroli disease is a rare genetic disorder that requires a comprehensive management approach, focusing on preventing and treating complications, with liver transplantation considered in severe cases with recurrent cholangitis and bilobar involvement or monolobar involvement with liver fibrosis or portal hypertension, as recommended by the EASL clinical practice guidelines 1. The management of Caroli disease involves a multidisciplinary approach, including the use of antibiotics such as fluoroquinolones and third-generation cephalosporins as empirical first-line treatment for hepatic cyst infection, with a recommended duration of antibiotic therapy of 4-6 weeks 1. Some key points to consider in the management of Caroli disease include:

• The use of ursodeoxycholic acid to improve bile flow and reduce inflammation
• The role of endoscopic procedures in removing stones or draining cysts in cases of recurrent infections or complications
• The importance of regular monitoring with ultrasound or MRI every 6-12 months to track disease progression and screen for cholangiocarcinoma
• The need for genetic counseling for family planning, as Caroli disease has an autosomal recessive inheritance pattern
• The consideration of liver transplantation in severe cases, as recommended by the EASL clinical practice guidelines 1. It is essential to note that the diagnosis of Caroli disease may be confirmed in expert disease centers, and the diagnostic accuracy is highest with magnetic resonance cholangiopancreaticography, which allows for optimal visualization of the biliary tree 1. In terms of surveillance for cholangiocarcinoma, patients with Caroli disease or syndrome may undergo surveillance using magnetic resonance cholangiopancreaticography every 12 months after diagnosis, as recommended by the EASL clinical practice guidelines 1. Overall, the management of Caroli disease requires a comprehensive and multidisciplinary approach, focusing on preventing and treating complications, and considering liver transplantation in severe cases, with the goal of improving quality of life and reducing morbidity and mortality.

From the Research

Definition and Characteristics of Caroli's Disease

• Caroli's disease is a rare congenital disorder characterized by the dilation of large intrahepatic bile ducts 2, 3.
• It can lead to complications such as cholangitis, liver cirrhosis, and cholangiocarcinoma 3.
• The disease can be classified into two forms: classic Caroli's disease, which involves malformations of the biliary tract alone, and Caroli's syndrome, which includes associated congenital hepatic fibrosis 2.

Clinical Presentation and Diagnosis

• Patients with Caroli's disease often present with symptoms such as jaundice, right upper abdominal pain, and fever due to associated complications of hepatolithiasis or bacterial cholangitis 2.
• The diagnosis of Caroli's disease depends on demonstrating that the cystic lesions are in continuity with the biliary tree, which can be shown by various imaging modalities such as ultrasonography, computerized tomography, endoscopic retrograde cholangiopancreatography (ERCP), percutaneous transhepatic cholangiography, or magnetic resonance cholangiopancreatography 3.
• ERCP is a necessary diagnostic procedure that should always be carried out in patients with Caroli's disease 4.

Treatment and Management

• The treatment for Caroli's disease includes supportive care with antibiotics for cholangitis and ursodeoxycholic acid for hepatolithiasis 2.
• Surgical resection has been used successfully in patients with monolobar disease, while orthotopic liver transplantation is the treatment of choice for patients with diffuse involvement 2, 5.
• Therapeutic endoscopy, including endoscopic sphincterotomy, can be effective in managing Caroli's disease by allowing complete clearance of intrahepatic stones in the majority of patients with unresectable symptomatic disease 4.
• Regular follow-ups are important for disease surveillance and monitoring to prevent complications such as recurrent cholangitis and cholangiocarcinoma 6, 5.