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Modern Medicine’s most neglected disorder receives much needed attention

New updated guidelines for the diagnosis, managements and care of patients with the Ehlers-Danlos syndromes have been published for the first time in 20 years. A recently formed international consortium of over 90 experts in the field of the Ehlers-Danlos syndromes published their research in the American Journal of Medical Genetics 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. It also introduces the newly-described Hypermobility Spectrum Disorders.

The Ehlers-Danlos syndromes are a group of multisystemic genetic connective tissue disorders that are caused by a defect in the structure, production or processing of collagen, the most common protein in the body. They are a common range of conditions affecting approximately 1 in 5000 people worldwide. It targets the joints, skin and blood vessels causing a wide variety of symptoms like hyper-reflexive joints, advanced osteoarthritis, chronic pain, fragile easily bruising skin and valvular heart disease among others. More severe types, such as Vascular Ehlers-Danlos syndrome, can be life-threatening, as fragile blood vessels and internal organs can spontaneously rupture. There’s currently no cure for Ehlers-Danlos and treatment includes physiotherapy and corrective surgery.

EDS Awareness Ireland founder Natalie Murphy hopes this reclassification will dramatically improve the quality of life of Irish sufferers. She says “Irish EDS patients; children, teenagers and adults, have been neglected for far too long.. These internationally agreed upon guidelines are a framework which every doctor in every discipline in Ireland can use. We have over 450 Irish members to date, the majority of whom have faced years if not decades of poorly managed chronic pain and medical scepticism”. 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.

Appealing to doctors nationwide she said “..please learn about the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders and work with us to develop management plans and treatments. These conditions are incurable but manageable. Currently, Irish patients suffering from the Ehlers- Danlos syndromes have to self-finance costly trips to the United Kingdom for appropriate diagnosis and treatment, as they are presently unavailable in Ireland.

“This publication is a game-changer for the Ehlers-Danlos community,” says Dr. Clair Francomano, Geneticist and Director of the US 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” Praising the new guidelines she added 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 USA and author on the publication. “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. She added that this new publication will “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.”

For anyone looking for further information and details about the updated criteria and guidelines can find them at www.ehlers-danlos.com.