Caroli Syndrome

Caroli syndrome is Caroli disease with congenital hepatic fibrosis, with portal hypertension and ductal dilatation.

• Autosomal recessive PKHD1 mutation (ARPKD spectrum), more common than pure Caroli disease.
• Congenital hepatic fibrosis: broad portal fibrous bands, ductal plate malformation, hypoplastic portal veins.
• Renal disease: ARPKD or medullary sponge kidney with nephronophthisis in a subset.
• Complications: portal hypertension (variceal bleeding, splenomegaly), cholangitis, cholelithiasis, cholangiocarcinoma (7%), renal failure.
• Presents in childhood to adolescence.

• Hepatosplenomegaly, haematemesis, thrombocytopenia.
• Recurrent cholangitis, abscess, jaundice.
• Hypertension, enlarged cystic kidneys, renal impairment.
• Liver synthetic function preserved until late.

• MRCP and ultrasound: cystic dilatation of intrahepatic ducts, central dot sign, hepatic fibrosis, splenomegaly, renal cysts.
• Elastography shows marked stiffness. Liver biopsy: ductal plate malformation, portal fibrosis.
• Endoscopy for varices. Doppler of portal vein.
• Renal ultrasound, creatinine, eGFR, urine concentrating ability.
• Genetic testing for PKHD1, and for nephronophthisis genes.
• CA 19-9 and imaging surveillance for cholangiocarcinoma.

• Portal hypertension: non selective beta blocker (propranolol, carvedilol), band ligation, TIPS or distal splenorenal shunt for refractory bleeding; liver function is preserved so shunt surgery is well tolerated.
• Cholangitis: antibiotics as for Caroli disease, ursodeoxycholic acid, endoscopic or percutaneous stone and sludge removal.
• Renal disease: blood pressure control with ACE inhibitor (enalapril 0.1 to 0.5 mg/kg), management of chronic kidney disease, dialysis and transplantation.
• Liver transplantation (or combined liver kidney transplantation) for recurrent cholangitis, decompensation, suspected malignancy, or progressive renal failure.
• Cholangiocarcinoma surveillance every 6 to 12 months.
• Genetic counselling; screening of siblings.