Further thoughts on the new Criteria

Now I’ve had a few days for the new EDS criteria to settle in, I thought I’d clarify a few of my thoughts and why I had such a negative reaction.

My biggest gripe is that the new criteria for hEDS focuses solely on skin and joint issues.  EDS is a disorder of collagen.  Collagen makes up our entire body, from veins to bowel, eyes to hair.  To say there is not enough evidence for issues like gut symptoms or POTS to be included in the diagnostic criteria blows my mind.  I don’t know one single EDS patients who does not have some form of gut issue and I know people who are tube fed due solely to their EDS.

In the webinar, the speakers are at pains to point out that systemic symptoms are well covered in the paper (now online here).  The paper which, by the way, is 245 pages long.  The paper does state that systemic symptoms should be taken into account when diagnosing hEDS ” the presence of such systemic manifestations may prompt consideration of hEDS in the differential diagnosis” in which case they should have been included in the diagnostic criteria.  The speakers say that the whole point of revising the EDS criteria was to make it simpler and for any doctor to be able to diagnose the condition.  Which time-strapped NHS GP or general physician is going to wade through a complex 245 paper when they have no particular interest in EDS (which is now going to be considered so rare they might only see a couple of cases in their entire career)?  Most Rheumatologist in the UK still know zero about EDS and they’re supposed to be the “specialists”!

The speakers say that they might produce a simple app in which you can tick some boxes to see if you have hEDS.  Will this app take you to the multiple sections on all the co-morbid symptoms?  No, of course it won’t.  The co-morbid symptoms will simply be ignored, making life much………oh so much……..harder for those with the condition.

My second gripe is not updating the Beighton score.  Being able to bend thumb to wrist appears 3 times in the new criteria (in both bits of Criteria 1 and also in Criteria 2).  My thumbs are seriously hypermobile, but bend the other way for heaven’s sake!  I can’t bend them to my wrist, but they bend outwards by 90 degrees (and are so painful they need splints due to a lifetime of over-extension).  But the lay-doctor will ask me to touch my thumb to my wrist, see I can’t do it and fail me.  Only the well-informed doctor will look at the fact my thumbs are hypermobile, they just bend t’other way (I have personal experience of health professions sticking rigidly to the Beighton score and not accepting my joint hypermobility because it didn’t fit ‘exactly’).  If these new criteria are supposed to make it easier for any Tom, Dick or Harry doctor to diagnose hEDS they fail spectacularly.

My third gripe is the 12 point list in Criteria 2.  I have atrophic scaring following my spinal surgery, but that’s not enough to fulfill point 6 in the list.  I apparently have to have two atrophic scars.  Sadly I became allergic to anaesthetic due to my MCAS (as a result of having EDS FFS!) so can have no further surgery as I might die.  So if you’ve never had an operation, or fallen and taken the skin off your knees, how do you prove atrophic scaring?  I’ve had a hiatus hernia for years due to my EDS which has been so painful it’s actually made me contemplate suicide, but this doesn’t fit for point 5 which relates to acute hernias.  Point 9 refers to being able to place thumb to wrist, but as mentioned above I’d fail this despite having hugely hypermobile thumbs.  I also take issue with point 7, which discusses uterine prolapse but only in “nulliparous” (ie  child-less) women.  75% of the female population have children for god’s sake, so even if your womb is hanging out your vagina you wouldn’t pass this because ten years ago you’d given birth.  Jaysus!!!!!

I did learn something about myself though, and it’s that I have Piezogenic papules of the feet.  No Doctor has ever looked for these and it’s almost impossible to look for yourself, so I got my Mum to check and yes I do have the white fat nodules when standing.

If I saw a Rheumatologist who specializes in hEDS I’d probably comply with 7 out of the 12 points and pass Criteria 2.  However, non-specialst Doctors would fail me because, as with the Beighton Score, they’d be too rigid in their assessment.

My fourth gripe also covers Criteria 2 and is about proving family history.  What if you’re adopted?  What if, like me, you are no longer in contact with your paternal family?  What if, like me, your parent is ill and can’t (or doesn’t want to) pursue a diagnosis?  What if your parents have died?  What if you are an only child and have no siblings?  This must be the worst section of the entire paper and is hugely discriminatory to anyone but the bloody Waltons Family!

My fifth gripe is about Criteria 3 and having other conditions excluded.  Good luck with that on the NHS!  I had to travel 100 miles and pay privately for a 15 minute appointment with a Rheumatologist who’d even heard of hEDS (her NHS waiting list was closed to new patients as she had so many people wanting to see her) just to get a diagnosis.  On which planet is an NHS patient going to get to see a handful of specialists in their field (haematologists, dermatologists, geneticists, neurologists) to rule out every other cause of their symptoms?!  No offence, but you can tell the American influence on the writing of the paper from this Criteria.  You want genetic testing over there you find a doctor, pays your money and gets it done.  The UK just doesn’t work like that, and what about patients in Africa or India where it’s not even an option?

The more I think about the new hEDS criteria the more angry and upset and frustrated I become.  Thank God I already have a diagnosis and according to the webinar speakers there is no need for this to be re-evaluated, but for all those out there still searching these new criteria have muddied the already dirty waters.  What was the reasoning for making it harder to gain a hEDS diagnosis (which the speakers at the webinar clearly state was the goal?).  I would guess that many people with hEDS are now going to be placed in the Hypermobility Spectrum Disorder (HSD) category.  The reasons for separating hEDS from HSD is stated as being that they require different management strategies and it will help further research.  But if people with actual hEDS are not being diagnosed and placed in the HSD category it means they won’t get the treatment they actually need and the research will be skewed.  I’m not sure how that will further the cause of either condition.

I sound like a proper negative Nelly on the new criteria, but my view is skewed by over 2 decades of seeing the same fight for good diagnostic criteria in the M.E. world.  We eagerly awaited each new criteria (and I think there have been 7 so far in the past 22 years) only to be gutted that they were still basically not fit for purpose and didn’t separate CFS from M.E. which, like EDS and HSD, meant that patients weren’t adequately treated and any research wasn’t worth the paper it was written on.  I am heartened, however, that the new EDS diagnostic criteria are stated as being “provisional” and can only hope that the Beighton score is revised as a matter of urgency.

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5 thoughts on “Further thoughts on the new Criteria

  1. Jan Groh

    Well said, I agree on just about every point. Thing is, what DO we want to see in the criteria? How can they better go about it without making it so long that no doctor will look at it? And for the record, I don’t think even the current 3 criteria they have now are “simple” enough.

    I suggest reversing Criteria 3 and 1 for that very reason: if someone has clearly very stretchy skin and keloid scars e.g., which are clear signs of a rare type, then suspect and test for cEDS (or whatever forms that matches). If they have a family history of aneurysms, ruptures and very visible veins, test for vEDS, e.g.. If they have extreme scoliosis and keratoconus, test (like we did for me) for kyphoscoliotic EDS. (I was neg for both vEDS and kEDS btw despite many signs of both across my family and myself, some more subtle than others.) So hEDS it was in 2012 as “best fits” at the time, as it was undeniable that depression didn’t split my R SI joint and make my R leg come (and stay) loose in the socket among many many other things.

    Cuz I sure as heck wouldn’t want a doctor to run through that whole questionnaire with me only to realize that uhm gee, I have a history of broken bones/easy fractures in the family etc that might have helped us dx proper OI first off, but only after we jumped all those hEDS hoops. But this presume also whatever /said doctor has a grasp and knowledge of heritable disorders of connective tissue! Of which there now even more. (SMH.)

    I.e, (and mind, I’m preaching to the choir with you and most all else reading I know), hEDS is a dx of EXCLUSION. So exclude the others first! Then run the works. Cuz the new forms of HSD are a dx of exclusion of THAT. (Meaning, if you start trying to look for HSD, you’re wasting your time, because if someone has keloid scars or brittle bones etc., you just wasted your time working your way up backwards, or misdiagnosing them.)

    Again, preaching to the choir I know. That said, I appreciate that this process is a lot like sausage making and passing legislation, all of which require huge compromises between very narcissistic people (many doctors) who see the world in B&W. (I’m suspecting most to be mildly OCD if not Aspie myself the longer I watch. In any case, many are very rigid in their thinking.)

    And as you said, good luck finding a doctor to run this. Even in the US where we DO tend to seek out geneticists for this dx (and can and sometimes have to – many specialists won’t see/treat you if you don’t get dxed by one in fact), it’s still not that easy I assure you as a) not all are trained in it still either, b) not all believe in it (oh the stories in the groups you should see,including my own: it took 25 years and becoming fully shattered and wc bound at 45 five years ago to finally be suspected of anything but depression) and c) the few who do now have 2 -3 year waiting lists, no joke, thanks to the internet helping raise awareness.

    I think we need to train up a bunch of rheumy’s here and in the UK myself. (And all over of course.) I dearly hope they’re going to have another physician training conference like they did 2 years ago (or was it just last year?).

    I also look forward to the laymen’s papers coming out to try to help normal people and busy doctors grok this, cuz the Malfait paper literally broke my brain yesterday and I’m now twitching and drooling, seriously. It’s by geneticists FOR laboratory trained geneticists, not for clinicians! Who also , even if there are enough, don’t have enough time for such a lengthy appointment, money aside! Sigh. No, this wasn’t well thought out I fear. Even if well-intentioned.

    That said, I don’t care if I now have “just Historic HSD” aka H-HSD in the chart as I no longer pass the Beighton no matter what I do. (I pass the rest and used to pass the Beighton but that doesn’t count teh way I read it. And yes I ran the 5 pt historic questionnaire -no help. I’m still a 2 at most currently at just 50 yo, I’m so darn stiff and like you, bendy in other places and ways than Beighton counts.) I’ll be the poster child for making it valid, cuz my pain and disability are really really valid TYVM. (Try me.)

    We’ll get there. Slowly, painfully… we’ll get there.

    http://ohtwist.com/about/

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    1. Jak Post author

      Thanks for the comments Jan. To be fair to the new criteria,in my opinion Section 1 would be fine if the Beighton Score were revised to include *any* major joint and for the joint to be hypermobile in any direction. They then probably wouldn’t need the 5 point questionnaire, but if they still felt it necessary they should include things not already on the Beighton Score (ie Gorlin’s sign).

      Re Criteria 2: again the 12 point system is fine, but too rigid. Why 2 scars, when 1 scar is enough to see skin issues? When only acute hernias, rather than the *very* common in EDS chronic hernias like hiatus? Why exclude uterine prolapse in women who have had children, when they’re the most likely to have one (I know non EDS women get prolapses but usually only when they’re older ie post-menopausal – younger women having prolapses are much less common)? The musculo-skeletal part is OK, but to me should include things like scoliosis. The family history should be included, but not be a vital part of the diagnostic criteria so as not to discriminate against those who have a spontaneous mutation or don’t have access to family history – just be used to back-up if hEDs is suspected.

      Criteria 3 should *start* with genetic testing, for everyone. Rule out vascular and classical etc., then as you rightly say hEDS then becomes a diagnosis of exclusion. That way you only have to see 1 specialist, instead of working your way through every department of the entire hospital! Systemic symptoms should absolutely be included in this section – there could be a check-list like there is for the Beighton Score: POTS, bowel, migraine, chronic fatigue, easy bruising, bleeding/clotting issues, MCAD etc.

      Job done then as far as I’m concerned. Now why weren’t *we* both on the committee LOL!

      Jak

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      1. Jan Groh

        RIght? lol. (Hey EDS – we’re over here! Us and a few thousand of our bendy friends!) I agree with your analysis of Criteria 2 as well, but as I read both of our comments, it’s clear to me they really do only want to select for the *grossest signs of the rarest types* of whatever constitutes the current hEDS “pool”, which will greatly facilitate research, as it will (clearly) select for a much more homogeneous phenotype.

        I think all of our points are valid, and they may later realize this, but we will be excluded – for now. Until the molecular science catches up. Which is my other consolation – the genetic testing is advancing so quickly, such that even Whole Genome Sequencing is becoming almost attainable (keyword almost) to the average consumer (around $1000 vs $10,000 a couple years ago) or will be in the next few years that I think it’ll all become moot soon enough.

        I.e, while we’re busy squabbling over clinical criteria, someday (within the next ten years or less? I’m guessing) there WILL be one test panel to run for all, and or also they’ll see a whole flock of the same SNPs in a bunch of us, whatever they want to call us and go “hey”, they’ve all got “X” SNP, and why look they don’t pass the Beighton anymore over 40!

        Cuz if you think about it, the folks who DO pass the Beighton still over 40 (and 50, ahem) have a certain shape to their sockets and mechanical operation that we clearly don’t share. (As you mentioned about your thumbs.) So they’ll definitely be more similar to each other than to us right? (My thumbs were never bendy either direction, just my distal finger tips – and how.) But I could have been a “4th” Ross Sister as a kid among other things:

        Clearly, there are more than likely several as yet TBD “SNPs” amongst the former hEDS “pool”, and I don’t mind them narrowing it down. I even think we’ll eventually end up back in some EDS category in time. It just may have an entirely different name ultimately. Who knows. (Funny, I now look like I “caught” hEDS in 2012 at 45, only to “cure” it in 2017, like a bad bug at 50. If only it were that easy, lol.)

        Meanwhile, I’m holding off giving much feedback directly to them for now as I know they are just flooded with plenty from others at this time. But the discussion is great, as it’s helping me to clarify what might be done better going forward. And, at least they’re giving us SOME kind of diagnosis still now vs none at all (or “just depression”) as before. Which, if we don’t take it seriously (i.e, believe it’s valid), then why ever would our doctors? I’ll jump in the “H-HSD” pool – come on in, the water’s fine!

        Keep on keeping on… we’ll get there yet.

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