Ehlers-Danlos Syndrome
Research Foundation
Collaborate, Innovate, Contribute
What is Ehlers-Danlos Syndrome?
Ehlers-Danlos Syndromes (EDS) are heritable disorders in which the body’s connective tissue lacks structural integrity.
People with EDS suffer from a range of systemic problems, including widespread pain, frequent joint subluxations or dislocations, and gut and nervous system dysfunction. If untreated, EDS can be highly limiting — even disabling. In the published literature, the overall prevalence of EDS has been estimated to be 1 of every 5000, however scientific evidence to support this number is lacking.
The prevalence of EDS differs for each of the 13-types. Vascular EDS (vEDS) is estimated to be 1 in every 50,000 (Shalhub et al., 2019); while Classical EDS (cEDS) is estimated to be 1 in 20,000-40,000. Hypermobile EDS (hEDS) is the most common, but the exact prevalence has been difficult to estimate due to changes in categorization. A recent paper by Demmler, et al. (2019) reports a combined prevalence of hEDS and Hypermobility Spectrum Disorder (HSD) in Wales of 1 in every 500. Since misdiagnosis is common, we believe the actual number is much higher. The other types of EDS are considered very rare, affecting less than 1 in a million people.
In addition to struggling to get a diagnosis, people with EDS and HSD often lack access to proven, affordable treatments.
Shalhub S, Byers PH, Hicks KL, Charlton-Ouw K, Zarkowsky D, Coleman DM, Davis FM, Regalado ES, De Caridi G, Weaver KN, Miller EM. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. Journal of Vascular Surgery. 2019 Nov 1;70(5):1543-54
Demmler JC, Atkinson MD, Reinhold EJ, Choy E, Lyons RA, Brophy ST. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison. BMJ open. 2019 Nov 1;9(11):e031365
Vision
That patients with Ehlers-Danlos Syndrome (EDS), Hypermobility Spectrum Disorders (HSD) and related disorders are diagnosed promptly and able to access affordable and effective care across multiple organ systems and health institutions.
Mission
The EDSRF is a medical research foundation that strives to improve the care of people with Ehlers-Danlos Syndrome (EDS), Hypermobility Spectrum Disorders (HSD) and related disorders in two ways: 1) by advancing innovative research on treatment modalities, efficacy, and delivery, and 2) educating healthcare providers across disciplines on the diagnosis and management of this patient population.
Committee
Chairs
Neurological Surgery:
Fraser Henderson, MD
Mast Cell/Immunological:
Anne Maitland, MD, PhD
Genetics:
Clair Francomano, MD
Musculoskeletal/Orthopaedic:
Alissa Zingman, MD, MPH
Dysautonomia/Neurological Manifestations:
Ilene Ruhoy, MD, PhD
Pain Management:
Linda Bluestein, MD
Temporomandibular Joint/Dental:
Jeffrey Brown, MD
