Abstract
Objective: To explore the clinical and genetic characteristics of patients with Ehlers-Danlos syndrome (EDS) and gastrointestinal involvement. Methods: We retrospectively collected the clinical data of patients with EDS and gastrointestinal involvement from the electronic medical records at Peking Union Medical College Hospital (PUMCH) from January 2003 to September 2023. Additionally, we conducted a systematic review by searching cases with EDS and gastrointestinal involvement in PubMed, Embase, Web of Science, and the Cochrane Library databases from January 2000 to September 2023. Results: Ninety-four patients with EDS and gastrointestinal involvement were retrieved, including five patients from PUMCH and 89 patients from 80 published articles. The average age of patients was (29±14) years. The most common manifestation of gastrointestinal involvement was gastrointestinal perforation (n=46, 48.9%), followed by functional gastrointestinal symptoms (n=33, 35.1%), and digestive arterial disorders (n=10, 10.6%). The most common clinical subtype was vascular-EDS (vEDS) (n=50, 53.2%) followed by hypermobile-EDS (hEDS) (n=20, 21.3%). The most frequent genetic mutation occurred in the COL3A1 gene (n=30, 31.9%). Among patients with vEDS, gastrointestinal manifestations included gastrointestinal perforation (n=33, 66.0%), arterial lesions (n=9, 18.0%), and functional gastrointestinal symptoms (n=7, 14.0%). Among patients with hEDS, gastrointestinal manifestations included functional gastrointestinal symptoms (n=18, 90.0%), visceral prolapse (n=3, 15.0%) and intestinal volvulus (n=1, 5.0%). Conclusions: The most common subtypes of gastrointestinal involvement in EDS were vEDS and hEDS. Patients with hEDS mainly presented with functional gastrointestinal symptoms, whereas those with vEDS primarily showed gastrointestinal perforation and digestive arterial disorders.
Published Version
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