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.
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.