Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study
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 Th...
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| Format: | Article |
| Language: | English |
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BMC
2020-09-01
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| Series: | BMC Gastroenterology |
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| Online Access: | http://link.springer.com/article/10.1186/s12876-020-01442-5 |
| _version_ | 1811293520673112064 |
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| author | Wen Shi Xiao-ming Huang Yun-lu Feng Feng-dan Wang Xiao-xing Gao Yang Jiao |
| author_facet | Wen Shi Xiao-ming Huang Yun-lu Feng Feng-dan Wang Xiao-xing Gao Yang Jiao |
| author_sort | Wen Shi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T05:02:34Z |
| format | Article |
| id | doaj.art-6df73786e6e649dba4bb19b7bb7e4c7e |
| institution | Directory Open Access Journal |
| issn | 1471-230X |
| language | English |
| last_indexed | 2024-04-13T05:02:34Z |
| publishDate | 2020-09-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Gastroenterology |
| spelling | doaj.art-6df73786e6e649dba4bb19b7bb7e4c7e2022-12-22T03:01:17ZengBMCBMC Gastroenterology1471-230X2020-09-012011810.1186/s12876-020-01442-5Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective studyWen Shi0Xiao-ming Huang1Yun-lu Feng2Feng-dan Wang3Xiao-xing Gao4Yang Jiao5Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeDepartment of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeDepartment of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeDepartment of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeDepartment of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeDepartment of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeAbstract 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.http://link.springer.com/article/10.1186/s12876-020-01442-5Caroli syndromeDiagnosisImaging |
| spellingShingle | Wen Shi Xiao-ming Huang Yun-lu Feng Feng-dan Wang Xiao-xing Gao Yang Jiao Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study BMC Gastroenterology Caroli syndrome Diagnosis Imaging |
| title | Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study |
| title_full | Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study |
| title_fullStr | Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study |
| title_full_unstemmed | Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study |
| title_short | Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study |
| title_sort | factors contributing to diagnostic delay of caroli syndrome a single center retrospective study |
| topic | Caroli syndrome Diagnosis Imaging |
| url | http://link.springer.com/article/10.1186/s12876-020-01442-5 |
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