Abstract Background/Rationale Respiratory symptoms in Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobility Spectrum Disorders (G-HSD) are multifaceted and can impair quality of life, but management strategies remain poorly established. Validated patient-reported outcome measures (PROMs) are lacking, and traditional pulmonary investigations often fail to explain or capture the multifactorial contributions to respiratory symptoms, limiting both diagnosis and management. These gaps in knowledge and care were the main topic of a meeting among experts and stakeholders to: (1) address the pathogenesis, evaluation, diagnosis and management of respiratory manifestations in EDS/G-HSD; (2) discuss interdisciplinary practices to improve the patient and provider experience; and (3) develop future research directions. Methods A two-day virtual meeting of 35 international multidisciplinary experts from respirology, cardiology, gastroenterology, otolaryngology, anesthesiology, physical therapy, nursing, psychology and patient partners was undertaken in April 2025. The meeting included didactic presentations, panel discussions, interactive breakout sessions, and group discussions. The meeting was recorded with presentations and discussions synthesized after the meeting. Results The meeting discussions were grouped into the following four themes and primary insights: 1) Symptom framework and pathogenesis: Respiratory symptoms were likely to arise from the interplay of structural, functional, inflammatory, and autonomic mechanisms. 2) Multisystem considerations: Conditions such as dysautonomia, gastroesophageal reflux disease, thoracic spine and rib cage instability with impaired proprioception, craniocervical instability, increased collapsibility of the airway, dysimmunity, and anxiety were felt to possibly exacerbate respiratory manifestations, including during sleep. 3) Diagnostic tools and limitations: Standard pulmonary investigations may miss functional impairments; thus, modalities such as diaphragmatic ultrasound and cardiac autonomic assessments may be helpful. 4) Management strategies: Non-pharmacologic approaches (e.g., breathing strategies, exercise and rehabilitation programs, whole body postural optimization) within a coordinated multidisciplinary framework were deemed important. Key research priorities were proposed (see Table 1). Further, these themes were endorsed by patient partners who highlighted how diagnostic and management challenges can have a toll on daily function. Conclusion The meeting brought together multidisciplinary experts to discuss key respiratory manifestations, assess current diagnostic and management strategies and establish important research priorities to improve daily function and quality of life in EDS/G-HSD. The meeting outcomes emphasized management strategies and research priorities that combine medical, rehabilitative, and psychosocial interventions to support multidisciplinary care. The insight from the patient partner’s perspective was incorporated to ensure approaches align with lived experience and patient-centered needs. This abstract is funded by: Supported by the Canadian Institute Health Research (PCS # 197184). DR receives research support from the National Sanitarium Association Chair in Respiratory Rehabilitation West Park Health Centre (UHN).
Rozenberg et al. (Fri,) studied this question.