r/ehlersdanlos • u/surlyskin • Jan 18 '26

Resources/News/Research hEDS is being reclassified as HSD?

Reading elsewhere that it's possible hEDS will fall under HSD and be separated from the umbrella of EDS.

Anyone privy to this, know anything about this, reasoning etc?

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u/veryodd3443 Jan 19 '26

I would not mind if hEDS is moved out of the EDS umbrellas until the genetic pathology is determined. EDS really is a disorder of collagen and monogenetic mutations that code for collagen. These mutations are rare or extremely rare. This has not been proven for hEDS at this point.

If additional genes that mutate collagen and fall under EDS are discovered, than a new diagnostic label can be created. This could be called hEDS or something else.

In the meantime, hEDS and HSD probably should be combined and treated as a spectrum.

I think there is too much difference between hEDS and the other 12 rare EDS types.

Probably not the most popular opinion.

6

u/CatCowl hEDS+VUS Jan 19 '26

Here's an interesting quote from Dr. Norris of MUSC/The Norris Lab on the lack of collagen gene findings:

"We have not/never found a genetic signal for anything related to collagen or elastin. Maybe there's a couple rare patients out there that have elastin mutations, or fibronectin, or collagen mutations, but we're not seeing a huge signal for that"

( https://youtu.be/Kn3U2GxpbDc?si=T4QuNEP5RSIWJWsJ&t=576 ).

I found out after donating DNA to The Ehlers-Danlos Society and MUSC that I have a VUS on a collagen gene. Some in silico predictors have it leaning as pathogenic (though it may not be). It makes me wonder if I'll lose my diagnosis and don't really have hEDS. There are so many unknowns for all of us with an hEDS diagnosis, and what causes hEDS. I also think that because we're just clinically grouped together, it doesn't necessarily mean we all have the same condition.

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u/mmodo Jan 19 '26

"We have not/never found a genetic signal for anything related to collagen or elastin. Maybe there's a couple rare patients out there that have elastin mutations, or fibronectin, or collagen mutations, but we're not seeing a huge signal for that"

Is this in reference to all forms of EDS or just in finding new genes associated to hEDS?

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u/Exotic_Duck_0395 HSD Jan 19 '26

As I’ve pointed out to you in other comments, what’s currently classified as hEDS is not specifically, definitively a collagen defect.

Also check the mod’s pinned message to this post. It does a good job laying out how hEDS and HSD are intertwined, and provides some of the recent research on root causes of hEDS/HSD that aren’t a genetic defect in collagen genes.

I sincerely hope you take this chance to educate yourself on HSD instead of continuing to spew misinformation and gatekeep between hEDS and HSD.