Hypermobility spectrum disorders and hypermobile Ehlers–Danlos syndrome: patient experiences, disability and implications for rehabilitation

The diagnosis and management of hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome (HSD/hEDS) are a healthcare challenge because of the wide array of symptoms, lack of diagnostic biomarkers, and evolving management guidelines. This study aimed to describe patient experiences, disability, and self-perceived success managing HSD/hEDS, with or without comorbid postural orthostatic tachycardia syndrome, mast cell activation syndrome, or hip dysplasia. This anonymous online survey explored symptoms, impact on life/function, healthcare experiences, and symptom management status of individuals in the US aged greater than or equal to 13 years with HSD/hEDS. Frequencies and central tendencies were calculated for multiple-choice items. Free-response items were categorized using WHO domains of disability. Seventy-two survey responses were analyzed. The most frequent symptoms were joint hypermobility, joint pain, and subluxations. Disabilities were reported in all six WHO life domains, with life activities being the most common. Most participants (58%) reported symptoms were not well-managed and were more likely to report financial barriers to care and more health conditions compared with other participants. This sample of individuals with HSD/hEDS experiences complex, multifactorial challenges with disability and symptom management. These challenges may be related to comorbidities and financial barriers. Interdisciplinary care models and targeted rehabilitation approaches may improve participation and outcomes, particularly when combined with strategies to reduce logistical and economic barriers.