S5823 Caroli Disease Complications

Introduction: Caroli Disease is a rare (1 in 1,000,000 individuals) congenital autosomal recessive disorder. It is described by non-obstructive, segmental dilatation of intrahepatic bile ducts. Presentations include recurrent episodes of cholangitis, hepatolithiasis, liver abscesses, or cholangiocarcinoma. Labs may be nonspecific, but diagnosis can be confirmed with imaging like magnetic resonance cholangiopancreatography (MRCP) or computed tomography (CT). We describe a case of complications associated with Caroli Disease. Case Description/Methods: Twenty-year-old man with history of autosomal recessive polycystic kidney disease status post bilateral nephrectomy with subsequent renal transplant and history of choledocal cyst status post removal, Roux-en-Y with chronic graft rejection, cirrhosis, esophageal varices, recent influenza infection presented to emergency department for new onset nausea and vomiting. Patient met systemic inflammatory response (SIRS) criteria with tachycardia of 113 beats per minute, fevers of 39.2° Celsius, and leukopenia of 2.20 cells per microliter. Labs remained negative for blood cultures, stool studies, and respiratory antigens. Repeat influenza testing remained positive, but the patient had no respiratory symptoms. Given chronic ascites, concern for abdominal infection remained on differential diagnosis. CT of thorax, abdomen, and pelvis did not show findings of superimposed pneumonia, but did show intrahepatic dilatation of biliary ducts, pneumobilia, and increase in ascites. CA-19-9 was mildly elevated. MRCP showed increasing pneumobilia. Patient completed a 5-day course of piperacillin/tazobactam and azithromycin empirically. Discussion: Though diagnosis had previously been confirmed, this case highlights associated processes with Caroli Disease. Patients may continue to have recurrent cholangitis, portal hypertension, and significantly increased risk of cholangiocarcinoma compared to the general population. This case also highlights complications may not manifest as typical presentations. Specifically, the lack of typical indicators of abdominal infection including abdominal pain, abnormal liver function enzymes, and expected pneumobilia given history of surgical intervention initially precluded cholangitis as a likely contributor for sepsis. However, the patient had increasing pneumobilia on subsequent scans and had improvement in signs, symptoms, and labs with completion of antibiotics.