Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study
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RESEARCH ARTICLE
Open Access
Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study Wen Shi1, Xiao-ming Huang2, Yun-lu Feng1, Feng-dan Wang3, Xiao-xing Gao2 and Yang Jiao2*
Abstract Background: Caroli 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. Methods: This 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. Results: The 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. Conclusions: The 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. Keywords: Caroli syndrome, Diagnosis, Imaging
Background Caroli syndrome (CS) is a rare congenital disorder characterized by segmental dilatation of the intrahepatic ducts and hepatic fibrosis [1]. The incidence of CS is estimated to be 1 per million of the population [2]. Although the pathoetiology of CS is still poorly understood, CS is known to be an autosomal recessive hereditary disorder involving malformation of the ductal plates and associated periportal fibrosis [3]. * Correspondence: [email protected] 2 Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1, Shuaifuyuan, Wangfujing St., Beijing 100730, China Full list of author information is available at the end of the article
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 also been reporte
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