A 37 year old man presented with complaints of abdominal pain and lower extremity edema. His past medical history was remarkable for an “enlarged liver.” Physical examination revealed muscle wasting, palmar erythema, spider angiomata, hepatospleenomegaly, ascites, and 2+ peripheral edema. Laboratory data was remarkable for an alkaline phosphatase of 168 U/L, albumin of 2.3 g/dl, platelet count of 99, 000, hemoglobin of 8.3 g/dl, creatinine of 1.95 mg/dL and INR of 1.3. Testing for viral, autoimmune and metabolic etiologies of chronic liver disease was negative. MRI of the abdomen demonstrated large lobulated liver with multiple dilated intrahepatic bile ducts throughout, evidence of portal hypertension and multiple renal cysts. The patient was clinically diagnosed with Caroli’s syndrome. Due to multiple hospitalizations for GI bleeding and ascending cholangitis, the patient was listed for transplantation and underwent successful simultaneous liver-kidney transplant.
Caroli’s disease is a rare inherited condition, with segmental, saccular dilations of the large intrahepatic biliary ducts. Caroli syndrome also involves cystic dilation of intrahepatic biliary ducts but is also associated with portal hypertension and congenital hepatic fibrosis. Most cases are autosomal recessive and linked with autosomal recessive polycystic kidney diseases. Clinical manifestations of Caroli syndrome are related both to the biliary abnormalities and portal hypertension. Saccular or fusiform dilatation of bile ducts predisposes to the formation of intraductal lithiasis, which can cause recurrent cholangitis. Additionally, patients with Caroli syndrome often present with classic cirrhosis manifestations such as ascites, hepatic encephalopathy, and variceal bleeding, all related to portal hypertension. Physical examination often reveals hepatomegaly, in contrast to the shrunken, nodular liver in most other causes of cirrhosis. Patients with Caroli syndrome often present at a young age and can lack risk factors associated with common etiologies of cirrhosis. Liver transplantation is an excellent treatment option for patients with advanced disease. If liver transplantation is not an option, treatment is mostly supportive.
Although statistically rare, familiarity with Caroli syndrome is important in the inpatient setting. Caroli syndrome should be suspected in young individuals presenting with complications of portal hypertension and/or recurrent cholangitis and an enlarged liver on physical examination. Pathognomonic MRI findings include sacular dilation of large, intrahepatic bile ducts and evidence of portal hypertension.
To cite this abstract:Cumberledge J, Patel T, Lockwood S. Cysts Not Just Cirrhosis. Abstract published at Hospital Medicine 2015, March 29-April 1, National Harbor, Md. Abstract 495. Journal of Hospital Medicine. 2015; 10 (suppl 2). https://www.shmabstracts.com/abstract/cysts-not-just-cirrhosis/. Accessed April 4, 2020.