5 Nov 2019
"New study confirms systemic nature of hypermobility syndromes, that late diagnosis is common and associated with negative health outcomes."
The BMJ open study on the diagnosed prevalence of EDS and JHS in Wales 1990-2017, by Demmler, Reinhold et al, has been the subject of some controversy in relation to the interpretation of prevalence and we acknowledge the authors' formal response to concerns raised has not yet been published.
However, at this point, we prefer to focus on the very helpful aspects of this important piece of work, in the knowledge that while the genetically identifiable forms of EDS are rare, as a combined group EDS and JHS are common, although there is not yet clinical evidence on the prevalence of hEDS/HSD as individual conditions*.
What the study does confirm is that the clinical features of these conditions are multisystemic, confirming the links outlined in the American Journal of Genetics in March 2017, which covered links to the cardiovascular, autonomic, and gastrointestinal dysfunction, chronic fatigue, pain syndromes, psychiatric and neurodevelopmental disorders. Issues are also reported in the gynaecological, obstetrics areas and with mast cell activation syndrome.
The importance of early diagnosis is also demonstrated in this piece. Delayed diagnosis of these conditions is associated with later onset of complications. Some stats from the research as follows:
A mean of 14 years elapses between the first clinical manifestations and the actual diagnosis.
For 25% of patients, this delay lasts over 28 years.
“A misdiagnosis was given to 56% of patients [resulting in] inappropriate treatment in 70% of the patients….
For 86% of the patients, the delay in diagnosis was considered responsible for deleterious consequences.”
At the HMSA, we understand that the more recent 2017 classification and terminology can give rise to misunderstandings and different perspectives which is understandable, however we hope that things will become clearer as we learn more about these disorders and are pleased that the general outcome of the study proves what we've long considered common knowledge about the experience of the existing patient population.
A link to the published paper on the BMJ Open website, right here.
*2017 terminology pertaining to the patient population diagnosed with the conditions known variously (and for a period interchangeably) as EDSiii, EDS3, EDS-HT, JHS, BJHMS, HMS, JHS, BJHS and HSD (Hypermobility Syndrome Disorder) etc.
Editorial note: It was not possible to separate the rarer types of EDS from the data studied (covering a period of 1990-2017) or to study the prevalence of the newer conditions due to lack of data. This article was originally published 5/11/19 and subsequently edited for clarity.