Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co-morbidities: Reports from EDS ECHO, 2021, Hakim et al.

SNT Gatchaman · Apr 1, 2023

Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co-morbidities: Reports from EDS ECHO
Alan J. Hakim; Brad T. Tinkle; Clair A. Francomano

Volume 187, Issue 4 Special Issue: Ehlers‐Danlos syndromes, Hypermobility Spectrum Disorders, and Associated Co‐Morbidities: Reports from EDS ECHO

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Link (American Journal of Medical Genetics Part C: Seminars in Medical Genetics)

SNT Gatchaman · Apr 1, 2023

The belief that EDS is rare or ultra-rare is true for several forms of the syndrome, but increasingly the hypermobile type of EDS (hEDS) is thought more common, and HSD (a population previously described within joint hypermobility syndrome prior to the 2017 nosology changes) much more common. Together the prevalence of hEDS and HSD is likely greater than 1 in 500 in the general population, and a common presentation in general musculoskeletal clinics.
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... the journey to diagnosis and treatment is challenging for patients, who may receive no diagnosis, or misdiagnoses. In addition, misconceptions that the issues are solely mental health concerns are commonly reported.
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Symptoms of chronic widespread pain and chronic fatigue are almost universal [...] These pathologies have been well documented and are increasingly understood through the determination of their molecular genetics and the ensuing abnormalities of collagens and other molecules of the extracellular matrix.
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In addition, several co-morbidities are associated with EDS and HSD. These include disorders of autonomic function, gastrointestinal function, neurodevelopment, mental health, and inflammation and systemic manifestations of mast cell activation. In 2017, alongside the new criteria for EDS and the framework for diagnosing HSD, the International Consortium on the EDS and HSD published a series of review articles exploring what was known of the associations and management of many of these co-morbidities in these conditions.
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No individual healthcare professional can truly manage all aspects of these conditions at an expert level.
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In October 2020, EDS ECHO (led by author A.J.H) brought together experts from across the breadth of the co-morbidities seen in EDS and HSD. [...] This special issue of the American Journal of Medical Genetics, Part C, is an extension of that conference.
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It explores: the patient journey; the value of coalitions; the tools used by physical therapists in their assessment and management; current evidence for surgical outcomes in orthopedics; pain mechanisms; pathophysiology of mast cell activation, and the potential role of inflammatory mediators in EDS and HSD; mental health concerns; associations between EDS, HSD and neurodevelopmental disorders; autonomic dysfunction, and its relationship with mental and physical health; dental disease; upper and lower airway disease; functional bowel disorders, and vascular compression syndromes as a cause of gastrointestinal symptoms; urological concerns; and gynecological concerns, and considerations in pregnancy.
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Jonathan Edwards · Apr 1, 2023

Alan Hakim was one of our trainees and took over the hypermobility story from Rodney Graham. He is probably now the main person in the UK pushing the make-believe about 'hEDS' or 'HSD'. The excerpts are typical. I think this is doing a huge amount of harm, particularly for children and adolescents, but the British Society for Rheumatology does not appear to want to take a stand.

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Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co-morbidities: Reports from EDS ECHO, 2021, Hakim et al.

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Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co-morbidities: Reports from EDS ECHO, 2021, Hakim et al.

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Jonathan Edwards Senior Member (Voting Rights)

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