‘Most neglected disorder in modern medicine’ receives major classification updatePosted March 9, 2017
The American Journal of Medical Genetics publishes new research on the Ehlers-Danlos syndromes
The Ehlers-Danlos Society, representing a recently formed international consortium of over 90 experts on the Ehlers-Danlos syndromes, will release the culmination of two years of review on Wednesday, March 15th. This publication clarifies the bases for the diagnosis of and updates the descriptions of more than a dozen different types of the Ehlers-Danlos syndromes. This long-awaited review updates the diagnostic criteria for the first time in 20 years, and provides management and care guidelines. It also introduces the newly-described hypermobility spectrum disorders.
“This publication is a game-changer for the Ehlers-Danlos community,” says Dr. Clair Francomano, Geneticist and Director of the Ehlers-Danlos Society Center for EDS Research and Clinical Care, and a co-author of the publication. “Up to this point, research into the Ehlers-Danlos syndromes has suffered from a lack of coordination and much of it has been based on outdated and incomplete diagnostic criteria. Moreover, clinical care for these patients has been compromised because physicians and other health-care professionals are generally not familiar with the wide range of manifestations and comorbidities that may be seen in these conditions. There have been no standardized guidelines for care. We hope that this update will help educate the healthcare community and promote greater awareness and understanding of the Ehlers-Danlos syndromes.”
Echoing the anticipated benefits of the new publications is Lara Bloom, Co-Executive Director of The Ehlers-Danlos Society and author on the publication. “One clinician, who has worked with people with Ehlers-Danlos syndromes since 1965, has referred to Ehlers-Danlos as, ‘the most neglected disorder in modern medicine’. That call resonated with patients who, with their doctors, struggled to find guidelines for diagnosis and care that reflected the emerging understanding of the guises under which Ehlers Danlos hid and the many manifestations that may have seemed unrelated. This new summary provides guidance for families and caretakers so that neither geography nor specialty determines your quality of life,” said Bloom, citing the difficulty of finding knowledgeable clinicians outside of major research hubs. “This international collaborative effort of dedicated clinicians and researchers worked tirelessly to crystallize our current understanding of the Ehlers-Danlos syndromes in ways that are immediately applicable to care and provide the medical community with tools that they have long awaited.”
The Ehlers-Danlos syndromes are a collection of multi-systemic, heritable connective tissue disorders affecting collagen, the most abundant protein in the body. With the exception of the hypermobile type of Ehlers Danlos syndrome, each type is a distinct entity defined by mutations in a single or small set of genes. Common features among the types include joint hypermobility, skin fragility, chronic pain, and fatigue. More severe types, such as Vascular Ehlers-Danlos syndrome, can be life-threatening, as fragile blood vessels and internal organs can spontaneously rupture. The greatest challenge for the consortium was to bring clarity and specificity to the clinical definition of the hypermobile type of Ehlers Danlos syndrome and to assess how the core features were related to comorbidities that could cloud the path to diagnosis and treatment. This effort is highlighted by the several papers in the collection that propose constructive solutions for the present and pathways to further understanding.
The Ehlers-Danlos Society is a global community of patients, caregivers, healthcare professionals, and supporters, dedicated to saving and improving the lives of those affected by the Ehlers-Danlos syndromes and related disorders. It is a 501(c)(3) nonprofit organization. More information about the Society can be found at ehlers-danlos.com.
Full paper will be published at www.ehlers-danlos.com on March 15th.
Co-Executive Director of The Ehlers-Danlos Society