Caroli Disease

Caroli disease is a rare congenital disorder with segmental saccular dilatation of the intrahepatic bile ducts, without congenital hepatic fibrosis.

• Ductal plate malformation, autosomal recessive (PKHD1 mutations), prevalence 1 in 1,000,000; presentation in childhood or young adulthood.
• Pure Caroli disease affects large intrahepatic ducts and does not cause portal hypertension (versus Caroli syndrome).
• Bile stasis leads to stones, sludge, cholangitis and abscess.
• Cholangiocarcinoma risk is about 7%.
• Associated medullary sponge kidney and renal cysts (ARPKD overlap), choledochal cysts.

• Recurrent fever, right upper quadrant pain, jaundice (cholangitis).
• Hepatolithiasis, liver abscess, sepsis.
• Pruritus with cholestasis.
• Portal hypertension is absent in pure Caroli disease.

• Ultrasound: saccular dilated intrahepatic ducts with portal vein branches within the dilated duct ("central dot sign" on CT and MRI).
• MRCP is the investigation of choice, showing communication of cysts with the biliary tree (differentiates from polycystic liver disease).
• Contrast CT for dot sign, stones, abscess.
• ERCP or PTC only for therapy.
• Laboratory: cholestatic liver tests, bilirubin, white cells, CRP, blood and bile cultures during infection; CA 19-9 for surveillance.
• Genetic testing for PKHD1. Renal ultrasound for associated renal disease.

• Acute cholangitis: ceftriaxone 2 g daily with metronidazole 500 mg three times daily, or piperacillin tazobactam 4.5 g every 6 hours, for 7 to 14 days; biliary drainage (ERCP or percutaneous) for obstruction.
• Ursodeoxycholic acid 15 to 20 mg/kg/day to reduce stasis and stones.
• Endoscopic sphincterotomy, stone extraction and lithotripsy for choledocholithiasis; percutaneous transhepatic stone removal.
• Long term antibiotic prophylaxis for recurrent cholangitis (cotrimoxazole, ciprofloxacin cyclically).
• Localised (lobar) disease: hepatectomy (usually left lateral segmentectomy or lobectomy) curative.
• Diffuse disease with recurrent cholangitis or malignancy: liver transplantation.
• Surveillance for cholangiocarcinoma with ultrasound, MRCP and CA 19-9 every 6 months.
• Drain abscesses percutaneously.