Abstract
BackgroundCaroli syndrome (CS) is a rare congenital disorder without pathognomonic clinical symptoms or laboratory findings; therefore, the diagnosis is often delayed. The objective of this study was to investigate the diagnostic delay and associated risk factors in CS patients.MethodsThis was a retrospective analysis of 16 CS patients admitted to a single tertiary medical center on mainland China. The diagnostic timelines of CS patients were reviewed to demonstrate the initial findings of CS at diagnosis, the risk factors associated with diagnostic delay, and potential clues leading to early diagnosis.ResultsThe median diagnostic delay was 1.75 years (range: 1 month to 29 years, interquartile range: 6.2 years) in 16 enrolled CS patients. Sex, age, and initial symptoms were not associated with diagnostic delay. 87.5% of CS patients were diagnosed by imaging, and the accuracies of ultrasonography, computed tomography (CT), and magnetic resonance cholangiopancreatography were 25, 69.2, and 83.3%, respectively. The median diagnostic delays for patients with or without CT performed at the first hospital visited according to physician and radiologist suspicion of the diagnosis were 7.4 months and 6 years, respectively (p = 0.021). Hepatic cysts with splenomegaly were detected by ultrasound in over half of CS patients.ConclusionsThe majority of CS patients were not diagnosed until complications of portal hypertension had already developed. Recognition and early suspicion of the disease were important factors influencing diagnostic delay of CS. Hepatic cysts plus splenomegaly detected by US might raise the clinical suspicion to include CS in the differential diagnosis.
Highlights
Caroli syndrome (CS) is a rare congenital disorder without pathognomonic clinical symptoms or laboratory findings; the diagnosis is often delayed
We performed a single-center retrospective study to review the diagnostic timelines of 16 CS patients to investigate the clinical features at diagnosis, the risk factors associated with diagnostic delay, and potential clues leading to early diagnosis
Demographic data, symptoms, laboratory results, detailed imaging findings, associated conditions, histopathology results, and other information related to CS diagnosis including residential location, family history, and hospitals visited were collected from the medical records
Summary
Caroli syndrome (CS) is a rare congenital disorder without pathognomonic clinical symptoms or laboratory findings; the diagnosis is often delayed. The objective of this study was to investigate the diagnostic delay and associated risk factors in CS patients. Caroli syndrome (CS) is a rare congenital disorder characterized by segmental dilatation of the intrahepatic ducts and hepatic fibrosis [1]. CS has no pathognomonic clinical symptoms or signs [4]. It can manifest insidiously, with patients presenting in two main ways: intrahepatic ductal ectasia and bile stagnation (i.e., recurrent cholangitis and/or cholangiolithiasis) or portal hypertension (i.e., hypersplenism, gastrointestinal bleeding, ascites) [5]. CS has been reported in association with cystic renal disease, pancreatic cysts, cavernomatous transformation of the portal vein, and an increased risk of cholangiocarcinoma [6]
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