2017 New EDS Diagnostic Criteria

It’s been a big week for Ehlers-Danlos Patients, with long awaited new diagnostic criteria being agreed by leading Doctors and patient organizations.  A webinar, with slides, on the new criteria is available on Youtube and, although still stupidly technical in its wording, is easier to understand than reading the paper.

I’m summarizing the new three part criteria below and giving my own personal view and how it relates to me as an individual.

Criteria 1:  Generalized joint hypermobility using the Beighton score

As I’ve mentioned before on my blog, if my Rheumatologist had used the Beighton score I would never have been diagnosed with hEDS.  I can’t touch the floor with flat hands, can’t bend my thumb to my wrist and my knees don’t hyper-extend backwards.  My thumbs do however bend outwards by almost 90degrees, my toes and ankles are hypermobile, my jaw is hypermobile, my spine and hips are hugely hypermobile as are my shoulders, but these particular joints don’t appear on the Beighton score.  So I’m totally unconvinced that untrained medical professionals – and the majority of health professionals are untrained in EDS – will diagnose more patients based on this “new” (but unchanged!) criteria.  The Bighton Score desperately needed to be changed and the fact that this didn’t happen will forever baffle me.

Criteria 1 now also includes a new 5 point questionnaire, however 2 of the questions simply repeat the Beighton Score, ie can you touch the floor with flat hands or bend thumb to wrist – what’s the point to that?!  Rather than repeat the Beighton score, surely the 5 point questionnaire should have been things like: party tricks, being double jointed, a positive Gorlin’s Sign (ie being able to touch tongue to nose), the Reverse Namaska Sign and being able to do the splits.  I only match 2 of the new five point questionnaire (party tricks as a kid and being “double jointed”) so, based on the new Criteria 1, I would not have been diagnosed.  Great.

Criteria 2:  two or more of the following must be present

  • Systemic manifestations of a generalized hypermobility disorder: there are 12 ‘manifestations’ to choose from and at least 5 must be present.
  • Positve family history.
  • Musculoskeletal complications.

I fail spectacularly on the systemic manifestations.  Out of the 12 criteria I only have 3: velvety skin, skin hyperextensibility and dental crowding/high roof palate.

In respect of family history, it took 42 years and a battle for me to get diagnosed with EDS let alone any of my relatives.  None of my immediate family have been tested, despite my Mum and brother having symptoms.  I can’t persuade either of them to pursue a diagnosis because my brother isn’t sick or in pain so he’s not interested and my Mum is nearly 80 and dying from 3 other conditions so isn’t interested.  In light of this how do I prove a family history?!

I fulfill all the criteria for ‘musculoskeletal complications’ so that’s something at least!

Criteria 3: the exclusion of other disorders

When I was diagnosed no other connective tissue or laxity disorders were even considered let alone ruled out as far as I’m aware.  I had a 15 minute consultation with a Rheumatologist knowledgeable in EDS and diagnosed then and there, which is the experience of most patients in the UK.

My Conclusion

While I deeply appreciate the time, work and effort which have gone into the new, stricter, diagnostic criteria I have to admit I’m hugely disappointed.  That no co-morbid symptoms have been included is truly heart-breaking.  I had my first bowel problem aged 3, decades before my joints began to play up.  I don’t know anyone with EDS that doesn’t have gut issues, yet apparently there is “not enough evidence” to include gut symptoms in the diagnostic criteria.  Just speak to patients, you’d find all the evidence you need!  No mention of POTS or dysautonomia, chronic fatigue, migraine/chronic headache, eye problems like astigmatism, excessive floaters or blue sclera and no mention of terrible proprioception (causing clumsiness) all of which if you speak to patients are very common.  And if they aren’t mentioned in diagnostic criteria you can bet your life they won’t be treated, and treating my co-morbid symptoms, in particular gut problems, is more important to me than my joint hypermobility because they are much more troublesome.  In the webinar, the speakers say that co-morbid conditions have not been left out and lots of time was taken to include managing them in the papers.  But here’s the reality – they have been left out of the diagnostic criteria, so uninformed doctors will say “they’re not related” and not take them into account when treating EDS.  It’s been hard enough all these years to prove that gut issues, chronic fatigue and spinal instability are part and parcel of EDS for most patients and all this work is now undone.  To think otherwise is naive.

No mention of a positive Gorlin’s sign which demonstrates lax tissue unassociated with a joint.  No mention of a positive Reverse Namaska sign, which demonstrates hypermobility of shoulders (which are excluded from the Beighton Scale). And most importantly, no mention of mast cell activation disorder, despite one leader researcher hypothesising it might affect as many as 1 in 10 EDS patients.

Whilst I understand there isn’t a huge amount of research evidence into the cause of these “co-morbid” symptoms (they’re not ‘conditions’ in their own right as specified in the paper, they are symptoms of EDS!), there is so much patient evidence that IMHO there should have been a section listing these symptoms and they should have been taken into account alongside the major criteria.  Collagen is present throughout the entire body for heaven’s sake – to think that when it goes wrong only joints and skin would be affected is ludicrous.  Leaving out the common systemic symptoms of EDS is, IMHO, hugely damaging to the patient population.

Based on the above, if I were to see my Rheumy now I’d fail the new criteria.

  • On Criteria 1: I don’t score enough on the Beighton score because my affected joints aren’t listed, and I only score 2 from the new 5 point questionnaire.
  • On Criteria 2: I only score 3 out of the 12 criteria.  I can’t prove a family history, though I strongly suspect it.  I fulfill the musculoskeletal criteria.  So if I can’t prove my family history I fail on Criteria 2.
  • On Criteria 3: I was never tested for other disorders, so I fail on these being excluded.

So as of today I no longer officially have hEDS.  Only of course I bloody do, and that’s a huge problem.  Even my Rheumatologist said I was a text-book case!  The whole point of the new crtieria is to make diagnosis easier and able to be performed by any doctor.  However, if I were trying to get diagnosed today I’d still need to see a Rheumy very clued up on EDS who didn’t stick strictly to the Beighton score but took other joints into account too.  If that happened I’d pass Criteria 1.  If the Consultant took time to take a detailed family history I’d probably pass Criteria 2 – but being as though most consultations take less than 15 minutes that’s never going to happen.  Ditto criteria 3, at least not on the NHS in Britain.  Rheumatologist don’t know enough to rule out other diseases which aren’t usually classed as under the rheumatology umbrella, so I’ve no idea how anyone here in the UK is supposed to fulfill criteria 3.

For patients not meeting the new criteria there is now a new diagnosis: Hypermobility Spectrum Disorder (Joint Hypermobility Syndrome has been relegated to history).  Only I don’t fit this either, so if I were chasing a diagnosis today I’d be left out in limbo, which is what this new diagnostic criteria is supposed to avoid!  God help us all is my response to the new criteria and today I literally want to burst into tears in despair.

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14 thoughts on “2017 New EDS Diagnostic Criteria

  1. artfulblasphemer

    I’ve been searching through my records, too, against this–and it’s hella confusing. I have a solid 9/9 on the Beighton score, my geneticist said my skin was “unusually soft” but I do not have atrophic scarring to my knowledge. In reading everything, it almost seems I fit better in hEDS. I do meet six of the 12 other criteria (including Walker-Martin and Hoffman), but the only genetic testing we did in 2013 was to exclude Marfan’s, so I supposed to determine if I am still cEDS (original dx) versus hEDS I’d have to drop some cash on more testing. I understand from a scientific point of view that evidence of comorbidities is required but agree that this leaves us to depend on our individual physicians to either “get it” or not. Of course, I’ve run into plenty who don’t “believe” in EDS, or POTS or what have you anyway, so evidence isn’t going to sway them. I am sorry that for you, the new nosology seems unhelpful–having rare shit is hard enough without the criteria changing to the degree that you go back to not knowing what you have.

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    1. Jak Post author

      I think there will be many patients who are now classed as HSD rather than hEDS, and many like you who were formerly one type of EDS and now no longer fit the criteria. Which doctors make getting a diagnosis *harder* for heavens sake! 😦

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  2. pianobycarolyn

    I feel exactly the same way. I would probably now only qualify for historical EDS, which is a ridiculous diagnosis, if you ask me, considering my joint instability and systemic manifestations continue to progress. It would be so hard to get diagnosed with these new criteria. I’m afraid many will be left out in the cold.

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    1. Jak Post author

      Sorry to hear you’d also be negatively affected by the new criteria. There’s no way my complex and systemic symptoms are solely “joint hypermobility” which is basically where this new criteria leave many hEDS patients 😦

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    2. Gwen C

      I sure as hell feel left out in the cold. I get a 7/9(maybe 8/9 depending on the day) Beighton score. Literally every question in the first criteria with an enthusiastic “yes.” I’ve only just been reading up and realizing that hypermobility syndrome, which I was diagnosed with as a kid, is often actually EDS and now I’m locked out of the diagnosis?

      I, like the author, fail criteria 2 miserably. I don’t have all the features of criteria A, but I do have some. I have developed musculoskeletal pain recently, and my loose elbows have been subluxating more frequently than ever(it’s hard for me to sleep on my side now), so consider that criteria C passed. But I bomb criteria B. The thing is, how the hell can I not?! I’m an only child, lesbian(no kids), and my parents are in their 60s. Criteria B is literally impossible for me to fulfill simply because my pool of first degree relatives is as small as you can get. Not to mention that it ignores the fact that my grandpa is known for having (shock of shocks) high flexibility and a lanky Marfanoid appearance. Dude can wrap his ankle around his leg at 94, I’d say there’s some level of hypermobility there.

      For supposedly helping people with this condition, I find it incredibly bizarre that they’re leaving people out for the purpose of research. No condition in the DSM has it’s criteria changed just because people can’t conduct thorough enough research to weed out people who may not have a genetic component. These are onerous requirements, that have no clinical purpose. Frankly, I find it unsurprising with moves like this that there are doctors who question the legitimacy of an EDS diagnosis. This EDS society is an utter joke, forcing people into new diagnoses that will likely face significant problems with insurance coverage for no good clinical reason.

      I feel like I’ve been screwed over for no reason other than bad timing.

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  3. Anne M

    Glad you have written a post about this. Still trying to get my head around the new criteria. I was originally diagnosed a long time ago with EDS type III but I do not score highly enough on the beighton scale to be categorised as the new Hypermobile EDS. So I think I now fall into the Hypermobility Spectrum Disorder category, with secondary pots and more. At least I think I do, I feel like I need to be reevaluated now. I’m interested in why you think you don’t fit the new diagnosis of Hypermobility Spectrum Disorder – I wonder if I am missing something. It’s very possible! 🙂

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    1. Jak Post author

      Hi Anne M

      If you already have a diagnosis, according to the webinar there is no need to be re-evaluated. I’m holding on to my diagnosis for dear life!

      The reason I feel I don’t fit the new HSD disorder is that when I was diagnosed my Rheumy gave me a score of 8/9 on Beighton *but* only because she took other joints than the ones listed into account – ie my thumb doesn’t bend to my wrist, but bends 45degrees outwards, so she still gave me a point for that even though I ‘technically’ didn’t fit the critieria. So if the Beighton score were fit for purpose (which it’s not) I’d actually pass Criteria 1.

      Re the new Criteria 2, I appear to have 2 immediate relatives with Marfans features and EDS. So again if a really clued up doctor with plenty of time took a detailed family history I *may* pass this part, though I can’t actually prove they have EDS as they won’t agree to see anyone.

      Re the new Criteria 3, again if I saw several specialists (geneticists, haematologists, dermatologists etc.) who all ruled out their particular speciality I’d probably pass criteria 3. But on the NHS in the UK I stand zero chance of this happening (I had to pay to see a Rheumy for my diagnosis as there was a 14 month waiting list to see her on the NHS, and even then I had to travel 100 miles!).

      I know for sure I have hEDS, which is why I don’t feel I fit the criteria for HSD. Proving it on the NHS though with any old Tom, Dick or Harry doctor would be a nightmare with the new criteria.

      Jak x

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  4. Anne M

    Thanks Jak, that makes sense. Yes I have been given quite different beighton scores over the years, 2/9 – 7/9! It doesn’t seem a foolproof system!

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  5. Karen, The Walking Allergy

    TThe .Beighton score us a nightmare… I had one doc do it in November- he gave me a three. Another, in January, 9/9. She said that she uses a ‘comparative’ versus ‘absolute’ marker. So, can I touch my toes WAY more easily than I ‘should’, given my conditioning and physical activity. I can’t put my hands down 100% flat…unless I stay bent over for 30 seconds…that’s how fast I ‘stretch’…. I’ve spend the last 15 years working VERY hard to not be flexible. She explained is perfectly- ‘Your 7 year old has a perfect Beighton score without thinking, right? The average 44 year old is a LOT less flexible than a 7 year old. You are not as flexible as YOUR seven year old. But you are more flexible than a ‘normal’ seven year old, let alone another 44 year old…”. Ah, yes. Clinical judgement and common sense…
    Afrin just released a paper on MCAS and EDS. Looking forward to hear his thoughts. And I can’t wait until more research is done on the genetic mutation they found linking MCAS/EDS/AD. Mind boggling that a single genetic mutation can effect so many symptoms…. Most diagnostic categories are false constructs anyhow, it is insane that humans are so focused on putting people into boxes… You know what you have. You know what work, and what doesn’t. You know which particular diagnosis is linked to various symptoms- I officially have EDS, SEID, MCAS, Disautonomias, IBS, CSS etc… It’s ALL the same thing (add in some IgE allergies and that’s what makes my particular variety of hell). It’s utterly ridiculous to refuse care because someone doesn’t have an ‘official’ diagnosis…. especially when the first line treatments make such a huge difference, are very low risk, and cheap. I shouldn’t need an EDS diagnosis to get a finger splint… I push on that finger and it dislocates- a gruesome one because I broke the finger so, it’s not the right shape to begin with. It is directly observable. The biggest issue is that Apapparently it isn’t dislocated because it doesn’t hurt enough…And it can’t be EDS because I’m not dislocating my joints… 🙄 (Finally found an intelligent doctor, thank goodness!) I don’t give a flying flip what name you give it- my finger is becoming less functional, quickly. I need a finger splint. So, apparently I have ‘inflammatory arthritis’ along with my EDS- so I can go to the arthritis clinic to get a ring splint… Stoopid.

    K

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    1. Jak Post author

      Totally stupid Karen I agree. Can’t write much on my little phone but please can you let me know the link to the new afrin papaer when you have it? Jak x

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        1. Jak Post author

          Thanks so much for passing the link on Karen, I’ll have a read at that when my foggy brain will let me.

          Hurrahh re the Iron fish, but boooo to the white blood count – honestly, there’s always something isn’t there?! x

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  6. Helen Page

    I score about a 2 on beighton despite a diagnosis of hypermobility in my ankles and thumbs. My toes are obviously hypermobile, I have lordosis, my pelvis is unstable, I have bursitis in both hips, my jaw is obviously hypermobile, my elbows twist round and I have tendinitis, I have dental overcrowding, I can do the reverse prayer thing. My sister has EDS, my 4 children all have high beighton scores and a list of other issues. I went to see a rheumatologist who refused to look much beyond beighton, diagnosed fibro, and told the gp to refer to pain management. Trouble is pain management here consists of uninformed physios, working for a private contractor who told my sister she couldn’t hurt herself doing physio – my sister who slipped a disc lying in bed. I am so frustrated with the whole system. Just someone taking a holistic view would help. And as for the gp providing pain management? Mine is refusing patches without pain management agreeing but the private company only deal with physio. Nightmare

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    1. Jak Post author

      So sorry you’re struggling with uninformed health professionals Helen, it’s sadly all too familiar for many of us 😦 I still can’t get understand why hEDS has been made even more difficult to diagnose when most people had a nightmare getting it recognized to start with. Jak x

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