Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: A parallel cohort study, 2017, Gaisl et al.

[Jonathan Edwards]

The study population was predominantly of Caucasian ethnicity (98.5%) and 82% female.

This is a major red flag. EDS should have equal sex ratio or in some cases male predominance.
Recruitment online is also a red flag.

Sorry, but I cannot get excited about the relevance of any of this.

 

[nataliezzz]

But the 1997 criteria requires autosomal dominance, so I’m not sure how they could have made any diagnoses based on «criteria only» without genetic data?

The solely clinical diagnosis doesn't require genetic confirmation though, they are just stating that is the inheritance pattern (although I am hearing that "EDS, hypermobile type" is not the same thing as "hEDS"? And apparently there is at least one gene associated with the "hypermobile type" - TNXB - but none with "hEDS"? I'm honestly confused too). Anyways, for this study, if EDS was confirmed by genetic testing, they would have qualified it as an objectively confirmed case rather than a solely clinically diagnosed case. These were the additional criteria for an objectively confirmed case.

If applicable, the clinical EDS diagnosis was objectively confirmed by either (1) gene analysis for an identified EDS culprit gene listed in the ‘Online Mendelian Inheritance in Man’ (see online supplementary eTable 1); (2) pathological finding suggestive for a specific EDS subtype in an electron microscope study or abnormal biochemical analysis of collagen in cultivated fibroblasts3 or (3) increased ratio (>0.5) of deoxypyridinoline to pyridinoline crosslinks in biochemical urine analysis for EDS VIA.

The examples of findings in an EDS patient demonstrates why these criteria are probably not of any use: I can also bend my fingers to 90 degrees backwards (45 degree without helping), and my toes go at least as far as hers. I also have many of the symptoms like fatigue and pain, so does that mean that I have hEDS?

Yes, I understand. When it comes to the hypermobility - obstructive sleep-disordered breathing connection and the link to chronic fatigue/pain though (leaving ME/CFS specifically aside), like I said to Trish, I doubt it matters what is causing the connective tissue laxity:

If there is a link between lax connective tissue (causing obstructive sleep-disordered breathing) and chronic fatigue/widespread pain, which I think I have provided good evidence for, it probably doesn't matter what disorder is causing the lax connective tissue - EDS, Marfan, hEDS, hypermobility spectrum disorder, etc. (of course maybe people with classical EDS/Marfan/etc. have more lax connective tissue than people with "hEDS" etc., but the people with "hEDS" who can stretch their skin way out and whatnot clearly have something, whether or not it has a specific genetic inheritance pattern. If the skin around their body is that stretchy, the tissue inside their throat is probably "stretchy" too and more likely to cause their airway to collapse during sleep)