ERN ReCONNET EDS Disease Group 2025 update

Throughout 2025, the ERN ReCONNET Ehlers-Danlos Syndromes (EDS) Disease Group has significantly advanced its efforts to refine the diagnosis and management of generalized joint hypermobility (gJHM) and hypermobile EDS (hEDS). The Group’s primary objective is to develop a mature, practical approach for using gJHM as a clinical decision-making tool, focusing on achieving consensus across three critical areas: integrating the Beighton Score with additional maneuvers for joints like the shoulders and hips to account for age and sex, defining clinical settings for genetic testing, and accepting Hypermobility Spectrum Disorders (HSD) as an etiologically agnostic diagnosis for pain associated with hypermobility.

The year’s key activities and milestones include:

·         Scientific Research and Education: The group published high-impact studies using multi-OMICs analysis to model vascular EDS pathogenesis and interpret splicing aberrations in PLOD1-related kyphoscoliotic EDS. Educational outreach was bolstered by finalized training modules and interactive, patient-driven webinars on genetic testing, titled “Understanding genetic testing in the era of next-generation sequencing: lessons from hereditary”, and unresolved questions regarding EDS and HSD, titled “Everything you always wanted to know about Ehlers-Danlos Syndrome (EDS) and hypermobile spectrum disorder (HSD) – Part two”.

·         Registries and Ongoing Projects: Work is nearing completion on EDS-specific Level 3 variables for the TogethERN RECONNET Registry, which are being adapted to include HSD to ensure the system remains robust ahead of the 2026 nosology update. Current projects also include a task force re-defining gJHM and a scientific proposal to collect data on rare variants in the C-propeptide region of the collagen III gene.

·         Future Initiatives for 2026: Plans for the coming year involve a strong focus on the integration of the new nosology and standardized genetic testing in collaboration with ERN SKIN and VASCERN. Scheduled webinars for 2026 will specifically address periodontal and vascular variants in May, followed by pharmacological and non-pharmacological management of joint hypermobility in November.

Moving forward, the Group remains dedicated to bridging the gap between clinical research and patient care by ensuring that new diagnostic standards and molecular insights are seamlessly integrated into the upcoming 2026 nosology and the evolving European registry framework.