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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.
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.
摘要：
背景：Caroli综合征（CS）是一种罕见的先天性疾病，没有病理性临床症状或实验室检查结果；因此，诊断经常延迟。这项研究的目的是调查CS患者的诊断延迟和相关危险因素。
方法：对中国大陆某三级医疗中心收治的16例CS患者进行回顾性分析。回顾了CS患者的诊断时间表，以证明CS在诊断时的初步发现。与诊断延迟相关的危险因素，以及导致早期诊断的潜在线索。
结果：中位诊断延迟为1.75年（范围：1个月至29年，四分位距：6.2年），在16例入选CS患者中。性,年龄,初始症状与诊断延迟无关.87.5%的CS患者通过影像学诊断,以及超声检查的准确性，计算机断层扫描（CT），磁共振胰胆管造影分别为25、69.2和83.3%，分别。根据医师和放射科医师对诊断的怀疑，在首次就诊的医院进行或未进行CT检查的患者的中位诊断延迟为7.4个月和6年。分别（p=0.021）。在超过一半的CS患者中，通过超声检测到具有脾肿大的肝囊肿。
结论：大多数CS患者直到门静脉高压症的并发症才被诊断出来。对该疾病的识别和早期怀疑是影响CS诊断延迟的重要因素。US检测到的肝囊肿加脾肿大可能会引起临床怀疑，将CS包括在鉴别诊断中。
方法：对中国大陆某三级医疗中心收治的16例CS患者进行回顾性分析。回顾了CS患者的诊断时间表，以证明CS在诊断时的初步发现。与诊断延迟相关的危险因素，以及导致早期诊断的潜在线索。
结果：中位诊断延迟为1.75年（范围：1个月至29年，四分位距：6.2年），在16例入选CS患者中。性,年龄,初始症状与诊断延迟无关.87.5%的CS患者通过影像学诊断,以及超声检查的准确性，计算机断层扫描（CT），磁共振胰胆管造影分别为25、69.2和83.3%，分别。根据医师和放射科医师对诊断的怀疑，在首次就诊的医院进行或未进行CT检查的患者的中位诊断延迟为7.4个月和6年。分别（p=0.021）。在超过一半的CS患者中，通过超声检测到具有脾肿大的肝囊肿。
结论：大多数CS患者直到门静脉高压症的并发症才被诊断出来。对该疾病的识别和早期怀疑是影响CS诊断延迟的重要因素。US检测到的肝囊肿加脾肿大可能会引起临床怀疑，将CS包括在鉴别诊断中。
