Shi Wen, Huang Xiao-Ming, Feng Yun-Lu, Wang Feng-Dan, Gao Xiao-Xing, Jiao Yang
Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
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.
BMC Gastroenterol. 2020 Sep 29;20(1):317. doi: 10.1186/s12876-020-01442-5.
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.
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.
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.
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.
卡罗里综合征（CS）是一种罕见的先天性疾病，没有特征性的临床症状或实验室检查结果；因此，诊断往往会延迟。本研究的目的是调查CS患者的诊断延迟及相关危险因素。
这是一项对中国大陆一家三级医疗中心收治的16例CS患者的回顾性分析。回顾CS患者的诊断时间线，以展示CS诊断时的初始发现、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。
16例纳入研究的CS患者的中位诊断延迟为1.75年（范围：1个月至29年，四分位间距：6.2年）。性别、年龄和初始症状与诊断延迟无关。87.5%的CS患者通过影像学诊断，超声、计算机断层扫描（CT）和磁共振胰胆管造影的准确率分别为25%、69.2%和83.3%。根据医生和放射科医生对诊断的怀疑，在首次就诊医院进行或未进行CT检查的患者的中位诊断延迟分别为7.4个月和6年（p = 0.021）。超过一半的CS患者通过超声检测到肝囊肿伴脾肿大。
大多数CS患者直到门静脉高压并发症已经出现才被诊断。对该疾病的认识和早期怀疑是影响CS诊断延迟的重要因素。超声检测到肝囊肿加脾肿大可能会提高临床怀疑，将CS纳入鉴别诊断。
