Respiratory Health in Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders: Advancing Care and Establishing Research Priorities

Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobility Spectrum Disorders (G-HSD) represent a spectrum of connective tissue disorders characterized by joint hypermobility and tissue fragility. EDS/G-HSD can lead to numerous respiratory manifestations. Despite significant respiratory symptoms and impairment in health-related quality of life, there is discordance with conventional clinical assessments and therefore a lack of effective individualized management strategies. Our objectives are to (1) convene a multidisciplinary panel of patient partners, experts in respiratory medicine, cardiology, allergy/immunology, otolaryngology, physical therapy, and research scientists (2) systematically address the management of respiratory manifestations in persons with EDS/G-HSD. A pre-meeting survey will be sent exploring potential factors for respiratory manifestations such as structural, functional, and inflammatory abnormalities, and conditions such as dyspnea, asthma, mast cell activation syndrome, and autonomic dysfunction. The survey will also explore the current effectiveness of diagnostic tools and management practices, including pulmonary function, imaging studies, physical therapy, and medications. A 2-day virtual meeting in April 2025 will be held with over 30 stakeholders who will present key topics in the field and discuss the pre-meeting survey and topics. The anticipated meeting outcomes are to: (1) form a collaborative group to share best practices for care of persons with EDS/G-HSD and publicly disseminate findings; 2) achieve a consensus on gaps in medical knowledge and practice that will be presented at the international EDS conference in Sept 2025; (3) create a research agenda for future grant applications. We aim to equip healthcare providers with the necessary resources to deliver enhanced, informed care to their EDS/-G-HSD population, while also promoting patient understanding of their respiratory health.