Caroli’s syndrome and imaging: report of a case

V. Aguilera, M. Rayón¹, F. Pérez-Aguilar and J. Berenguer

Services of Digestive Medicine and ¹Pathologic Anatomy. Hospital Universitario La Fe. Valencia

A 21-year-old man was referred for assessment of a portal hypertension. He had been followed up from birth because of a "presumed" hepato-renal policystic disease. At the age of 8 years,a portal hypertension with hepatomegaly, splenomegaly and grade-II-esophageal varices was detected, and beta-blockers were initiated for treatment. At the age of 14 different examinations were performed, which were consistent with a Caroli's syndrome. Magnetic resonance (MRI) cholangiography showed a nodular liver with saccular cystic dilatations communicating with the biliary tree, and demonstrated the presence of policystic renal disease. A liver biopsy showed portal spaces with minimal duct proliferation and fibrosclerotic bands.

At the age of 20, a vascular MRI scan showed severe signs of portal hypertension with giant variceal nodules around the splenic hilus, small gastric curvature, and esophagogastric junction. Upper gastrointestinal endoscopy showed a progression of esophageal varices to grade-IV varices, with ingurgitation and presence of "red spots". Because of a substantial risk of hemorrhage, band ligation was performed as a primary prophylaxis for bleeding. One year later, a recurrence of esophageal varices developed in the upper esophagus. Laboratory tests showed impaired liver function tests (prothrombin activity 49.2%, bilirubin 3.15 mg/dl, albumin 4.7 g/dl). Given the evidence of severe portal hypertension, high risk of variceal bleeding, and impaired liver function tests, liver transplantation was considered.

Caroli's disease is characterized by the presence of cystic dilatations of the intrahepatic bile ducts. Two primary types of the disease have been identified-a "pure" type or Caroli's disease (type 1) and a "complex" type associated with congenital hepatic fibrosis, also named Caroli's syndrome. The significantly more frequent complex form is transmitted through autosomal recessive inheritance. Cystic dilatations usually involve the entire liver. Although commonly predominating on the right side, a bilobar involvement was confirmed in the present case.

Associated conditions, including choledocal cysts and renal cystic disease, occur mainly in the complex or hereditary form. A lack of remodeling at the embryonic ductal plate is essential for the development of both conditions (1-3).

The disease may present anytime in life but is unusual after the age of 50 years. Its clinical course is characterized by repeated episodes of bacterial cholangitis due to biliary stagnation within dilated cyst ducts. In the complex form, complications of portal hypertension can precede biliary manifestations and be cataclysmic. Late complications include biliary cirrhosis, intrahepatic abcesses, and the development of tumors such as cholangiocarcinoma.

This diagnosis must be considered for any adult or child with recurrent bacterial cholangitis with or without liver enzymes abnormalities and/or presence of portal hypertension.

Ultrasonography and computed tomography are also helpful in showing diffuse or focal anechoic areas. Although associated with a high risk of acute cholangitis, trans-hepatic cholangiography or endoscopic retrograde cholangio-pancreatography is used for diagnosis confirmation. Due to potential complications, these techniques should be restricted to uncertain cases. Cholangio-MRI is a non-invasive modality that has proven itself the best diagnostic method because of its ability to show communications between cyst ducts and the biliary tree (4).

Treatment must be individualized. Since bile duct dilatations are confined to a particular lobe or segment of the liver, hepatic lobectomy or segmentectomy may be curative. Endoscopic treatment may be useful in some cases, or it may represent a bridging treatment to transplantation. In cases of bilobar extension, recurrent bacterial cholangitis, or severe portal hypertension, liver transplantation is indicated (5). 

ACKNOWLEDGEMENTS

This article has been supported in part by a grant of the Instituto de Salud Carlos III (CO3/02).

REFERENCES

1. Desmet VJ. Pathogenesis of ductal plate abnormalities. Mayo Clin Proc 1998; 73: 80-9.

2. Taylor AC, Palmeer KR. Caroli's disease. Eur J Gastroenterol Hepatol 1998; 10: 105-8.

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5. Sans M, Rimola A, Navasa M, et al. Liver transplantation in patients with Caroli's disease and cholangitis. Transpl Int 1997; 10: 241-4.