Caroli Disease: A Presentation of Acute Pancreatitis and Cholangitis

Abstract

Caroli disease is a rare congenital disorder resulting from the dilation of large intrahepatic bile ducts. Patients affected with Caroli disease are at increased risk of complications resulting from bile stasis and stone formation. We report the case of a 37-year-old woman with a past surgical history of cholecystectomy who presented to the emergency room with a chief complaint of abdominal pain and nausea. The pain was characteristic of acute pancreatitis but she was hemodynamically stable. Total bilirubin was 4.1 mg/dL with a direct fraction of 3.1 mg/dL, aspartate aminotransferase (AST) and alanine aminotransferase (ALT) were 850 IU/L and 1025 IU/L, respectively. Serum amylase and lipase were elevated at 581 IU/L and 1328 IU/L, respectively. CT scan of abdomen/pelvis without contrast showed common bile duct (CBD) measuring 1.6 cm with intrahepatic biliary system dilation and mild peripancreatic fat stranding. She was diagnosed with acute pancreatitis. On the second day, she developed a temperature of 99.6°F. Hepatitis immunity panel was negative for acute hepatitis. The patient was started on antibiotics (IV ciprofloxacin and metronidazole) for suspicion of acute cholangitis. Endoscopic retrograde cholangiopancreatography (ERCP) was done which showed mild dilated intrahepatic ducts and CBD dilation of 1.6 cm, and a choledochal cyst at CBD. Sphincterotomy was done and good bile drainage was reported. She was later discharged in a stable condition. Caroli disease affects males and females equally and most are diagnosed before the age of 30 years correlated with the onset of symptoms. By far, the most commonly reported symptom is acute cholangitis but pancreatitis occurs rarely. Recurrent bouts of infection lead to portal hypertension, fibrosis of the liver and ultimately end up with an orthotopic liver transplant (OLT). Regular follow-ups are important for disease surveillance and monitoring.

Role of Cholangioscopy in a Patient With Hepatolithiasis and Caroli Disease

“…Caroli disease is a rare autosomal recessive congenital pathology, with a prevalence of 1 in 1,000,000 people in the general population, 4 affecting both men and women with similar frequency, with most of them being diagnosed before the age of 30 years. 5 This pathology is part of the spectrum of fibrocystic diseases characterized mainly by the malformation of the bile ducts that manifests as cystic segmental dilatation of the intrahepatic bile ducts 1 and can compromise the entire liver or may be limited to either the right or left hepatic lobes. The disease has 2 presentations, the first is called Caroli disease type I or simply Caroli disease, which is characterized only by cystic segmental dilation of the bile ducts.…”

Caroli’s Syndrome: An Early Presentation

“…Ultrasound (US) shows very bright areas of echogenicity in the liver due to the dense bands of fibrous tissue [ 5 ]. For CD, US and contrast-enhanced CT scan are employed as the first-line diagnostic modalities [ 3 ]. US reveals multiple anechoic intrahepatic bile lakes surrounding portal vein radicals [ 1 ].…”

“…The true incidence of CHF is unknown; however, it is believed to be one in 10,000 to 20,000 live births [ 2 ]. Caroli’s disease (CD) is a rare autosomal recessive disease with a prevalence of one in 1,000,000, characterized by cystic dilatation of large intrahepatic bile ducts [ 3 ]. Although the disease is present at birth, it is typically not clinically significant for the first two decades of life [ 4 ].…”

“…Although the disease is present at birth, it is typically not clinically significant for the first two decades of life [ 4 ]. CD can present as a standalone or may co-exist with CHF, and is thus termed Caroli's syndrome [ 3 ]. They are genetically related to autosomal recessive polycystic kidney disease (ARPKD).…”

Findings of cholangitis in a kidney transplant patient with Caroli disease on FDG PET/CT and MRI

“…It is referred to as Caroli syndrome when congenital liver fibrosis and signs of portal hypertension are evident 2 , 3 . Males and females are equally affected, and the age of onset is variable with the majority of patients being diagnosed before the age of 30 years 3 , 4 . According to a systematic review by Fahrner et al.…”