Unraveling Gastrointestinal Symptoms in Hypermobile Ehlers-Danlos Syndrome: A Functional and Structural Diagnostic Perspective

: Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSDs) are commonly associated with gastrointestinal (GI) symptoms. However, data regarding the functional and structural GI findings in this population are limited.

: We conducted a retrospective cohort study of patients with HSD/hEDS who were referred to the neurogastroenterology clinic at a tertiary medical center for GI evaluation between January 2016 and January 2025. Clinical data included information regarding demographic characteristics, GI symptoms, comorbidities, and the results of diagnostic investigations, including endoscopy, gastric emptying scintigraphy, colonic transit studies, esophageal and anorectal manometry, balloon expulsion testing, and defecography.

: Eighty-one patients (median age, 35.4 years; 91.4% female) were included in the study. GI symptoms were common and often overlapped: constipation was reported by 65.4% of patients; bloating, 60.5%; chronic diarrhea, 42.0%; and abdominal pain, 67.9%. Functional dyspepsia was present in 50.6% of the patients, and 63.0% of the patients met the Rome IV criteria for irritable bowel syndrome. Diagnostic evaluations frequently revealed functional and structural abnormalities. Anorectal manometry demonstrated rectal hyposensitivity in a substantial proportion of patients with lower GI symptoms, whereas defecography identified high rates of structural abnormalities, including rectocele, enterocele, and intussusception.

: Patients with HSDs/hEDS exhibited a high burden of overlapping GI symptoms and frequent functional and structural abnormalities. A comprehensive, symptom-directed GI evaluation is required to integrate functional testing and imaging.