A pole of competence for Ehlers–Danlos syndromes

Introduction/Background The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joints hypermobility, skin hyperextensibility and tissue fragility. The international EDS Consortium proposes a revised EDS classification [1] and a set of clinical criteria that are suggestive for the diagnosis. In France, poles of competences were created in 2017, one of which in Perpignan Hospital. We reports one year's activity of this. Material and method We use the EDS Consortium classification and clinical criteria for diagnosis, possibly supplemented by a geneticist for questionable dagnosis. The confirmed diagnosis entered into treatment protocols including rehabilitation, pain treatment, pychological and socio-professional handlings. Results The population includes 36 subjects (29 female, 7 male) with a medium age of 36.7 years (6–73) with EDS diagnosis. Nineteen of them (52.8%) were confirmed, 6 (16.6%) refuted and 11 (30.6%) questionable, justifying a geneticist view. Among these, 6 were confirmed, 5 refuted. Finally, 25 subjects (69.4%) were confirmed and enter into treatment protocols, including sphincters disorders for 9 (25.0%), 11 (30.6%) were refuted, arising from differential diagnosis. Conclusion EDS have underestimated for a long time. Currently, the risk is the opposite, relating to the banality of some symptoms that can carry a diagnosis by excess, hence the importance of specific criteria [1] . As to the treatment protocols, they can make use of validated drugs and technics. A work in this area (evidence based medicine) is ongoing to define these with French Health Insurance and National Authority for Health.