An acquired or heritable connective tissue disorder? a review of hypermobile Ehlers Danlos Syndrome
Martin, A. 2019. An acquired or heritable connective tissue disorder? a review of hypermobile Ehlers Danlos Syndrome. European Journal of Medical Genetics. https://doi.org/10.1016/j.ejmg.2019.103672
Hypermobile Ehlers Danlos Syndrome (hEDS) is a multifaceted disorder that is difficult to diagnose and manage primarily due to the unknown causes. Research on hEDS continues to evolve but tangible progress will be realized when the growing body of evidence compliments clinical practice.
This critical review of the literature aims to stimulate lateral thinking about the pathogenesis, diagnosis and management of hEDS. The current international classification of Ehlers Danlos Syndrome introduced stricter diagnostic criteria for hEDS, which bore a blanket category (hypermobility spectrum disorders) for conditions presenting with symptomatic joint hypermobility, but do not match the hEDS diagnostic criteria. One would argue hEDS is another all-encompassing classification for heritable connective tissue disorders and or acquired musculoskeletal conditions without a definitive molecular basis. As scientific research progresses to accommodate validated and or annulled hypotheses, the plethora of unknowns in hEDS continue to challenge healthcare outcomes and care experiences.
|Keywords||Hypermobile Ehlers Danlos Syndrome; joint hypermobility; connective tissue disorder; diagnosis; management|
|Journal||European Journal of Medical Genetics|
|Digital Object Identifier (DOI)||https://doi.org/10.1016/j.ejmg.2019.103672|
|Online||15 May 2019|
|Publication process dates|
|Deposited||22 May 2019|
|Accepted||12 May 2019|
|Accepted author manuscript|
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