Introduction
Ehlers–Danlos syndrome (EDS) is a connective tissue disorder characterized by a non-inflammatory nature. Hypermobility EDS (hEDS) accounts for 80–90% of all EDS cases1.
Over the past two decades, studies have reported a high prevalence of gastrointestinal (GI) symptoms among hEDS patients, including abdominal pain, bloating, constipation, diarrhea, nausea, vomiting, and reflux disease.
Aims & Methods
To characterize the GI symptoms in patients with hEDS and to explore the potential contribution of functional and anatomical abnormalities to the GI manifestations observed in this population.
We conducted a retrospective cohort study of patients diagnosed with hEDS who were evaluated at both the EDS and Gastroenterology clinics. Eligible patients had a clinical diagnosis of hEDS based on the Brighton criteria. Patients with a documented diagnosis of inflammatory bowel disease (IBD) were excluded. Demographic data, GI symptoms, and results from diagnostic evaluations—including anorectal manometry, balloon expulsion test, defecography, gastric emptying scans, transit studies, and endoscopic procedures—were collected and analyzed.
Results
A total of 76 patients with hEDS were included with a median age of 33.7 years. Common comorbidities included endometriosis (43.5%), fibromyalgia (36.8%). Macrophage activation syndrome was diagnosed in 2.6%.
Upper GI symptoms were frequently reported, with heartburn (31.6%), postprandial pain (30.3%), early satiety (25%), epigastric pain unrelated to meals (22.4%), and dysphagia (13.2%) being the most prevalent.
Lower GI complaints were even more common: constipation affected 64.5% of patients, bloating 57.9% and chronic diarrhea 40.8%. Notably, 19.7% experienced both constipation and diarrhea.
Among 32 patients who underwent colonoscopy, 30 had normal findings.
Anorectal manometry revealed hyposensitivity in 54% of constipated patients and hypersensitivity in 54% of diarrhea patients. Squeeze pressure was low in 38% of diarrhea patients. Balloon expulsion failure occurred in ~50% of patients across groups.
Defecography demonstrated a high prevalence of anatomical abnormalities: rectocele (67–78%), enterocele (47–78%), and rectal prolapse (53–78%). Gastroparesis was identified in 45–60% of patients undergoing gastric emptying scans due to lower GI complaints. Prolonged colonic transit was found in 25–50% of those evaluated.
Conclusion
Patients with hEDS commonly experience a broad range of upper and lower GI symptoms, often presenting with multiple overlapping complaints. Functional and structural abnormalities—such as rectal hyposensitivity, pelvic floor dysfunction, rectocele, and enterocele—were frequently identified and may underlie these symptoms. Notably, gastroparesis was prevalent, highlighting the widespread impact of EDS on GI motility. These findings underscore the importance of comprehensive GI assessment in EDS patients, integrating both functional testing and imaging to guide appropriate management.
References
1. Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):48-69. doi: 10.1002/ajmg.c.31538. Epub 2017 Feb 1. PMID: 28145611
