S1413 Caroli's Syndrome: A Common Presentation of a Not-So-Common Disease

Abstract

INTRODUCTION: Caroli's syndrome is a congenital disorder associated with autosomal recessive polycystic kidney disease characterized by intrahepatic bile duct dilatation and congenital hepatic fibrosis. While uncommon, it should be considered in the differential diagnosis of those with right upper quadrant pain and jaundice as it can lead to recurrent cholangitis and cholangiocarcinoma. CASE DESCRIPTION/METHODS: A 25 year old male with end stage renal disease secondary to autosomal recessive polycystic kidney disease presented with right sided abdominal pain and fevers of two months duration. Labs were remarkable for liver injury, coagulopathy, elevated inflammatory markers, and hyponatremia. Extensive autoimmune, rheumatologic, and infectious workup were negative. Imaging was remarkable for cystic dilation of intrahepatic bile ducts, common bile duct dilatation, and hepatomegaly with sequela of portal hypertension. Liver biopsy revealed congenital hepatic fibrosis. Patient was diagnosed with Caroli's syndrome with smoldering/subacute cholangitis. He completed a seven day course of antibiotics and was discharged with Gastroenterology follow up to determine if he would be continued on chronic antibiotics or undergo endoscopic evaluation. DISCUSSION: Caroli's syndrome (CS) is a rare congenital disorder characterized by multifocal segmental non-obstructive saccular or fusiform dilatation of the intrahepatic bile ducts. The incidence of CS has been found to be low, at just 1 in 1,000,000. There are two types of Caroli’s: type 1 (Caroli's disease), which consists of cystic dilatations of the intrahepatic bile ducts and type 2 (Caroli's syndrome), which is associated with congenital hepatic fibrosis on biopsy. CS can be difficult to diagnose as it has no distinguishing signs or symptoms. The most common initial symptoms include right upper quadrant pain, fever, anorexia, fatigue, and jaundice. With worsening disease, patients can have complications of hepatic fibrosis or cirrhosis, portal hypertension, recurrent cholangitis, intrahepatic calculi, biliary abscess, and cholangiocarcinoma. Although definitive diagnosis is made with liver biopsy, many patients can be diagnosed based on imaging studies such as computerized tomography and magnetic resonance cholangiopancreatography. Treatment is dependent on clinical features and location of abnormalities. Treatment options include endoscopic therapy, chronic suppressive antibiotic therapy, internal biliary bypass, hemi-hepatectomy, and liver transplantation.