THU0717-HPR\u2005CLINICIANS’ AND PATIENTS’ UNMET NEEDS IN EHLERS DANLOS SYNDROMES, THE EXPERIENCE OF ERN RECONNET

Abstract

Background: The European Reference Network for rare and complex connective tissue and musculoskeletal diseases (ERN ReCONNET) is a European network of 26 healthcare providers (HCPs), that aims at developing a comprehensive and harmonized approach to 10 rare and complex connective and musculoskeletal diseases (rCTDs). The network gathers the community of health care professionals and patients’ representatives. The involvement of patients is structured thanks to the creation of the European Patient Advocacy Groups (ePAG). 3 ePAGs representing each disease pillar are members of the steering committee. The Ehlers-Danlos Syndromes (EDS) are represented in the ERN ReCONNET with the exception of vascular EDS represented in the VASCERN ERN. Objectives: To raise awareness on the unmet needs related to EDS in the EU through attracting and engaging more experts, specialists and HCPs in order to address those needs. Methods: At present, the EDS is represented by 2 HCPs and 2 official ePAGs, senior and junior disease coordinators have been identified both among HCPs and ePAG, in particular the EDS ePAGs intensively sought for unmet needs of EDS into their wider European Community. All needs identified by ePAGs were discussed with the senior and junior coordinators and their contribution was added in a dedicated paragraph of the article, acknowledging them as co-authors. Among other activities, a state of the art on clinical practice guidelines (CPGs) has been performed also for EDS1, in which patients and clinicians highlighted the most important unmet needs. Results: As the new 2017 International EDS nosology2 was only published in March 2017, EDS still lack Clinical Practice Guidelines and recommendations. The main EDS unmet needs identified concern the need to develop data on prevalence and clinical features, the identification of reliable biomarkers and the implementation of advanced instrumental imaging techniques. The management of pain, fatigue and psychological support have also been identified as a major topic to be addressed. More efforts should be put also on the education of healthcare professionals in order to provide faster diagnosis and better care to EDS patients. A stronger representation of EDS centres of expertise in the ERNs is needed, especially considering the crucial added value represented by the possibility of discussing clinical cases in the Clinical Patient Management System provided by the European Commission. Conclusion: The ERN offers a real opportunity to develop better standards of care taking into account patients unmet needs. It is critical to increase EDS awareness and to attract HCPs for the follow-up and care of patients to be able to meet the unmet needs of the EDS patient population and healthcare professionals. \nAcknowledgement:\xa0: on behalf of the ERN ReCONNET European Patients Advocacy Group Disclosure of Interests: None declared