Tag Archives: hEDS

hEDS v ME

There is a fascinating discussion taking place on Jen Brea’s facebook page about how many people with a confirmed diagnosis of hEDS (hypermobile Ehlers-Danlos Syndrome) also have a confirmed diagnosis of M.E. (aka ME/CFS) as defined by the International Consensus Criteria.  There is a poll and so far it stands at 91% of hEDS people who have also been diagnosed with M.E. (as per the ICC).  As one commentator rightly pointed out there is likely to be bias, as people with M.E. follow Jen and people without M.E. don’t, but even so it’s a high percentage.

Reading the comments, I was amazed to see that patients were confused about how you differentiate between M.E. and hEDS, and that some doctors had taken away their M.E. diagnosis when they were also diagnosed with hEDS.  WTF?!  While it’s true they do share some symptoms,  they also have very separate and distinct diagnostic criteria and as someone who has both it’s easy peasy lemon squeezy to differentiate between the two.  However, to avoid confusion I thought I’d look at the overlaps and the differences.  I will be using the 2017 International Nosology for hEDS and the International Consensus Criteria  for M.E.

OVERLAPS

When it came to looking at the common diagnostic criteria for hEDS and M.E., you will probably be as astonished as I was that they only share 1 common symptom:

  • Chronic pain

That is it!

However, when it comes to hEDS there are symptoms which are reportedly common in the patients population but which don’t form part of the diagnostic criteria because they haven’t been definitively linked to causation.  These should be taken into account when diagnosing hEDS in conjunction with the official diagnostic criteria.  More of these symptoms are shared with M.E. including:

  • Autonomic dysfunction
  • Dysautonomia/POTS/orthostatic intolerance
  • Gastrointestinal symptoms, eg nausea, IBS, pain, dysmotility (constipation/diarrhoea), early satiety (ie feeling full quickly)
  • Allergies/hypersensitivities to chemicals, odours, environmental triggers, foods (ie MCAS!)
  • Headaches/migraine disorder
  • Impaired proprioception (ie being clumsy)
  • Genitourinary issues (ie weeing a lot, pain on urination, painful periods/endometriosis)

 

DIFFERENCES

hEDs requires:

  • joint hypermobility

Plus 5 of the following:

  • Unusually soft or velvety skin.
  • Mild skin hyperextensibility.
  • Unexplained striae such as striae distensae or rubrae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or prepubertal women without a history of significant gain or loss of body fat or weight
  • Bilateral piezogenic papules of the heel.
  • Recurrent or multiple abdominal hernia(s) (e.g., umbilical, inguinal, crural)
  • Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS.
  • Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without a history of morbid obesity or other known predisposing medical condition
  • Dental crowding and high or narrow palate.
  • Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Steinberg sign) on both sides; (ii) positive thumb sign (Walker sign) on both sides
  • Arm span‐to‐height ≥1.05
  • Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria.
  • Aortic root dilatation with Z‐score > +2

And/or:

  • A positive family history of EDS
  • Dislocations or frank joint instability

Plus:

  • Absence of unusual skin fragility
  • Exclusion of other heritable and acquired connective tissue disorder
  • Exclusion of other heritable and acquired connective tissue disorder and diseases which could account for the above symptoms.

None of the above form part of the diagnostic criteria for M.E.

M.E. requires

  • Post-exertional neuroimmune exhaustion characterised by:
    – Marked, rapid physical and/or cognitive fatigability in response to exertion which is debilitating and causes a relapse.
    – Postexertional exhaustion which may be delayed by hours or days.
    – A prolonged recovery period, typically 24 hours or more.  A relapse can last days, weeks or longer.
    – A substantial reduction in pre-illness activity level, by at least 50% (which tends to be forgotten and is why I query anyone having an M.E. diagnosis if they still work full-time).

Plus the following:

  • Neuro-cognitive impairments which become worse with activity.  These include:
    – confusion, disorientation, speech problem, new-onset dyslexia, cognitive overload.
    – short term memory loss.
  • Unrefreshing sleep & disturbed sleep patterns, eg. insomnia or hypersomnia (not due to pain or other symptoms).
  • Neurosensory and motor disturbances.  These include:
    – inability to focus vision/abnormal accommodation response of the pupils.
    – sensitivity to noise, light, vibration, touch.
    – muscle weakness, twitching, ataxia, abnormal gait/positive Romberg sign.
  • Chronic flu-like symptoms which worsen with activity, eg. sore throat, tender/swollen lymph glands, fevers/chills.  Also:
    – susceptibility to viral infections with prolonged recovery periods.
  • Energy transportation impairments, such as:
    – air hunger.
    – loss of thermostatic stability.

None of the above form part of the diagnostic criteria for hEDS.

Let’s also not forget that hEDS is a genetic condition present from birth.  ME, on the other hand, is an aquired disease usually following an acute viral infection.

Conclusion

When you look at the situation in black and white I’m amazed there is so much confusion in respect to telling M.E and hEDS apart, because they only share 1 diagnostic criteria, chronic pain.   While there are several symptoms like POTS, allergies and gastro-intestinal symptoms which may appear in both diseases, when combined with the official diagnostic criteria it’s very easy to see how distinct and separate the illnesses are.

As someone who has both diseases, plus MCAS, endometriosis, severe migraine disorder and dysautonomia, I find it fairly easy to tell which symptom is coming from which disease.  I get chronic fatigue from my hEDS, but it’s nothing like the flu-like malaise and drained, sickened, unable-to-move-without-feeling-like-I’m-dying  collapse I get with M.E.  The pain from my Endo is nothing like the pain from my hEDS, which is nothing like my migraine pain, which is nothing like the tooth-ache all over gnawing pain of my M.E.

Having said all that, my gastro-intestinal symptoms could be due to anything (migraine makes me nauseous, pain makes me nauseous, MCAS makes me nauseous, orthostatic intolerance makes me nauseous, exhaustion makes me nauseous) so there are definitely overlaps, but nothing which muddies the diagnostic waters.

That’s all I can manage to write for now.  I went on a photography day out yesterday and, despite sleeping 7 straight hours, today I feel like a rag doll – my eyes are down by my knees, I have a sore throat, my dylexia is off the charts, I feel sick, I’m hot, I’m very pale, I’m a bit dizzy and disorientated, I have a headache, I’m ridiculous sleepy, but most importantly my brain function is dreadful.  All this is the classic, delayed PEM of M.E.  I also have quite bad leg, neck and back pain due to hEDS, but it’s my ME symptoms that are keeping me in my pyjamas for the entire day (and probably all of tomorrow too, without the energy for a shower despite the fact I know I smell!).

 

 

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Self Care

EDS Support UK have caused a bit of a ruckus on their Facebook page this week by stating “You may feel like you’ve made a breakthrough when you finally get a diagnosis, only to find that you are discharged and there is no-one to oversee your care as would be the case with other illnesses that affect multiple systems of the body. While there is no doubt that this lack of support is unfair, it is perfectly possible – indeed necessary – to learn to effectively manage your condition yourself.”

I must admit when I first read it I thought to myself “are you kidding me?!” and can see where the anger from patients is coming from, but on reflection I think I can see where EDS UK intended to come from, even if the phrases used weren’t particularly well thought through.

There are just 2 specialist NHS hEDS centres in the entire country (Sheffield and London) and if, like me, you live hundreds of miles from either they might as well not exist at all.  To make matters worse, if you have other conditions such as M.E. they won’t take you on as a patient, which I’ll explain further below.   So it actually is necessary to learn to manage your condition yourself.  But, and it’s a big BUT, when first diagnosed you really, really need some help and advice on how to do this and it is non existent.  Nine years after diagnosis I still don’t know the difference between a sprain, a tear and a partial dislocation – the pain feels the same to me – and I have had no guidance on how to distinguish between them or how to manage any one of them.   When I woke barely able to breathe or move due to what I guessed was rib slippage I had no-one to turn to for confirmation or advice on how to manage what was a scary and intensely painful symptom.  So while self-care is a vital part of any chronic health condition it must be based on adequate information and advice, and it’s that which is lacking from the point of view of most hEDS patients.

I think most patients took issue with the phrase “it is perfectly possible……to learn to effectively manage your condition yourself” which, actually, isn’t the case for some people.  hEDS is a spectrum disorder and while for those mildly or moderately affected self-care, with the guidance of trained professionals, may be adequate, it may not be suitable for those on the more severe end of the spectrum.

The next part of the EDS post which caused anger was this: “The day-to-day management of EDS is based around the right kind of exercise, physiotherapy and pacing”, which is all well and good if you can do exercise or tolerate physio.  Because of my M.E., however, I can’t so I am just left to get on with it on my tod.  Even if you can tolerate physio the number trained in hEDS is minuscule and, as EDS UK point out, any physio has to be the right kind because the regular kind can make us bendies worse!  I’m lucky where I live in that some of the physios at my local hospital have received special training in hEDS, however they discharged me because the exercises they were giving me made my pain and fatigue so much worse due to my M.E. (prescribing exercise to an M.E. patient is a bit like giving sugar to a diabetic), which is why the inpatient hEDS unit in London doesn’t accept patients with an M.E. diagnosis!  So I have been forced into self management because no-one wants a complex patient like me on their books or has any idea how to help me.

Many people with hEDS also have other conditions.  M.E. is common, as is Mast Cell Disease, but also other stuff like arthritis, auto-immune disorders and POTS/dysautonomia and although the EDS UK post mentions you will need help with these the help simply isn’t there.  So not only are you left to manage hEDS on your own you’re also left with all these other conditions for which there is no help or advice.  And I think it’s for this reason so many people were complaining about the EDS UK post.  Yes self care is an important part of managing hEDS but it shouldn’t be the only part, yet for the majority of patients it is.

Many support organizations are based in the South East, where they tend to live in a lovely little bubble.  I have a friend who lives in London and there are no less than 5 hospitals within a three mile radius of his house, whereas my local hospital is 30 miles away and the nearest specialist hospital for complex issues is 90 miles away.  Specialist care in Wales, N.Ireland and Scotland is even worse and I do get immensely pissed off at the attitude of charities who think everyone in the country has the same access to care as those living in the South East.  To make matters worse, when they hold conferences they are almost always in London, or if not London Birmingham, which if you live in Abergavenny, Whitehaven or Aberdeen might as well be on another planet.  As you know, I am seeing a MCAD specialist in Sheffield next month and am having to make a 6 hour return train journey for the privilege of having a half hour appointment!  Much more needs to be done to hold events, particularly teaching seminars, around the country so that our local doctors, physios and health care providers have the opportunity to receive information on our conditions and are then better informed to help us, and also so that we patients can attend and glean vital information on self care.  Being London-centric is my biggest complaint of all the charities.

So, while I agree that self care is a necessary part of managing hEDS it needs to be based on information, advice and guidance given by professionals trained in hEDS, and it’s this which is lacking.  It also can’t be the only type of care available, and again for the majority of patients there is no other help, not only for their hEDS symptoms but for all the other complex conditions which arise as part of, and alongside, their connective tissue disorder.  It’s a situation which needs more urgently addressing.

HSD v hEDS

I’ve been asked to write a post on the differences between Hypermobility Spectrum Disorder (HSD) and hypermobile Ehlers-Danlos Syndrome (hEDS) and how each of the conditions are diagnosed.

Before I start, I’ll just talk a little about the new and old terminology.

  • EDS III has been replaced by hEDS – both refer to hypermobile Ehlers-Danlos Syndrome.
  • Benign Joint Hypermobility Syndrome (JHS) has been replaced by Hypermobility Spectrum Disorder (HSD).

Historically there has been much confusion between general hypermobility (HSD) and Hypermobile EDS (hEDS) and in 2017 an international group of doctors and patient groups came together to devise new criteria to help differentiate between the two.  Having said that, it’s now thought they are basically the same disease just on a spectrum and it’s possible that although you may be diagnosed with HSD at one point in time, as you age new symptoms could present themselves and your diagnosis could change to hEDS.  This was the case for me.  I was initially diagnosed with Joint Hypermobility Syndrome (now called Hypermobility Spectrum Disorder) but this was later changed to hEDS as my symptoms increased and new symptoms appeared.

When women reach their 40s and start to enter peri-menopause symptoms definitely may change.  For example I used to be hugely hypermobile, scoring 8/9 on the Beighton Score, but now I’m 50 I’m so stiff I’d be lucky to score 3/9!  So the new criteria take this into account, with the question “can you or could you ever” do the splits for example.  And of course, symptoms like dental over-crowding are most relevant to children not adults so taking a good history is very important in the diagnostic process.  So what exactly are the new criteria?


HYPERMOBILE EHLERS-DANLOS SYNDROME (hEDS)

Patients need to have ALL 3 of the criteria below:

Criterion 1: Generalized Joint Hypermobility (GJH)

Tested for using the Beighton Score.
Children, younger adults and older adults are treated differently as hypermobility decreases with age:
Children need a score of 6 or more out of 9.
Adults need a score of 5 or more out of 9.
Adults over 50 need a score of 4 or more out of 9.

However, some people’s score may be affected by surgery or, for example, an unrelated disease (my Mum has Dupytrens Contracture and can’t even straighten her fingers let alone bend them backwards).  In these cases a 5 point questionnaire is used.

  • Can you now (or could you ever) place your hands flat on the floor without bending your knees?
  • Can you now (or could you ever) bend your thumb to touch your forearm?
  • As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits?
  • As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion?
  • Do you consider yourself “double jointed”?

A “yes” answer to 2 or more questions suggests hypermobility.

My experience of the Beighton Score

If I had seen a Rheumatologist not really clued up on hEDS I would probably never have been diagnosed.  I have never been able to place my hands flat on the floor with straight legs, my thumbs do not bend inwards to my wrist and my knees don’t particularly bend backwards, yet I was given a score of 8/9!  The reason being I was clearly hypermobile in other joints.  My thumbs bend outwards by 45 degrees, not inwards.  My wrists are hypermobile.  I used to be able to do the splits.  I’ve been told my whole life by doctors that I am “double jointed”.  I have hypermobile ankles.   My knees roll inwards just not backwards!  I have hypermobile toes.  I was also 42 when diagnosed, so no spring chicken.  Taking all of these non-beighton scores, and my age, into account my Rheumy decided I was clearly hypermobile and she was correct to do so.  There are photos of my joint hypermobility on my blog here.

Criterion 2: Two or More Among the Following Features (A–C) MUST Be Present (for Example: A and B; A and C; B and C; A and B and C)

Feature A: systemic manifestations of a more generalized connective tissue disorder (a total of five must be present).

  • Unusually soft or velvety skin.
  • Mild skin hyperextensibility.
  • Unexplained striae such as striae distensae or rubrae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or prepubertal women without a history of significant gain or loss of body fat or weight
  • Bilateral piezogenic papules of the heel.
  • Recurrent or multiple abdominal hernia(s) (e.g., umbilical, inguinal, crural)
  • Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS.
  • Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without a history of morbid obesity or other known predisposing medical condition
  • Dental crowding and high or narrow palate.
  • Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Steinberg sign) on both sides; (ii) positive thumb sign (Walker sign) on both sides
  • Arm span‐to‐height ≥1.05
  • Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria.
  • Aortic root dilatation with Z‐score > +2

My experience of Feature A

  • I have been told my whole life that I have beautiful skin – I didn’t realize that other people didn’t have skin which felt velvety to the touch.
  • One of the reasons I was initially given a diagnosis of JHS and not hEDS was that my skin was only mildly stretchy, so it’s good to see that it’s now recognized that circus freaky stretchy skin is NOT needed for a diagnosis of hEDS.  There are photos of my stretchy skin on my blog here.
  • I have no striae (stretch marks to you and me!).
  • I have piezogenic papules on my heels – this is what they look like:
Photo of piezogenic papules

Piezogenic foot papules

  • I have never had a hernia.
  • I have atrophic scaring in two sites – a small scar on my forehead after a childhood fall and also on the scar from my spinal surgery.  This is what an atrophic scar looks like, it’s kind’ve creased!

Widened, atrophic, cigarette paper scar

  • I’ve never had a prolapse.
  • I had dental overcrowding as a teenager and had to have 4 of my molar teeth removed.
  • I do not have Arachnodactyly (which is long, slender fingers or toes).  In fact, just the opposite – I have short, fat, stubby fingers and toes!  Read more about the Steinburg and Walker Signs here (I have neither).
  • I have no idea if I have an armspan to height ratio of greater than 1.05 as I’ve never been tested but I doubt it – I’m 5ft 2″ and have diddly little arms.
  • I do not have mitral valve prolapse or aortic root dilation.  Both of these symptoms must be checked by having a heart scan.

So, I personally score 5 out of 12 which means I fulfill Criteria 2, Feature A.

Feature B: positive family history, with one or more first degree relatives independently meeting the current diagnostic criteria for hEDS.

I have a real issue with this being part of the criteria.  What if you’re adopted, your parents are dead or you’re an immigrant whose parents are in another country like Syria?  What if, like me, you are not in touch with your biological father?  As it happens, I’m fairly sure I inherited hEDs from my Mum however she’s 78 years old, very ill and not willing to go through the testing procedure so I can’t say for certain that she does have hEDS. 

I can’t prove that I fulfill Criteria 2, Feature B.

Feature C: musculoskeletal complications (must have at least one)

  • Musculoskeletal pain in two or more limbs, recurring daily for at least 3 months
  • Chronic, widespread pain for ≥3 months
  • Recurrent joint dislocations or frank joint instability, in the absence of trauma (a or b)
    • a. Three or more atraumatic dislocations in the same joint or two or more atraumatic dislocations in two different joints occurring at different times
    • b. Medical confirmation of joint instability at two or more sites not related to trauma

My experience of Feature C

  • I didn’t start partially dislocating (called subluxing) my joints until I was in my early forties and I’ve never thankfully had a full dislocation.
  • I’ve had chronic, widespread and musculoskeletal pain for decades.

I’m not sure if having subluxations meets the definition of ‘frank joint instability’ (though I suspect it does), but nevertheless I pass the other two symptoms and therefore fulfill Criteria 2, Feature C.

Conclusion

Based on the evidence of having 2 out of the 3 Features listed above, I pass the test for Criteria 2.

Criterion 3: All the Following Prerequisites MUST Be Met

  • Absence of unusual skin fragility, which should prompt consideration of other types of EDS
  • Exclusion of other heritable and acquired connective tissue disorders, including autoimmune rheumatologic conditions. In patients with an acquired connective tissue disorder (e.g., lupus, rheumatoid arthritis, etc.), additional diagnosis of hEDS requires meeting both Features A and B of Criterion 2. Feature C of Criterion 2 (chronic pain and/or instability) cannot be counted towards a diagnosis of hEDS in this situation.
  • Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity. Alternative diagnoses and diagnostic categories include, but are not limited to, neuromuscular disorders (e.g., myopathic EDS, Bethlem myopathy), other HCTD (e.g., other types of EDS, Loeys–Dietz syndrome, Marfan syndrome), and skeletal dysplasias (e.g., OI). Exclusion of these considerations may be based upon history, physical examination, and/or molecular genetic testing, as indicated.

My experience of Criteria 3

You rely heavily on your Consultant to fulfill Criteria 3, so you can only hope you see someone knowledge in hEDS.  I do have fragile skin which tears and bruises easily, but this is part of having hEDS – the trick is in knowing if this is abnormally fragile or not and I’m not sure where the cut-off point is.  In the UK, suspected hEDs patients aren’t routinely offered gene testing which I personally think is a big mistake.  There are times I feel I have cross-over symptoms with Classical EDS (cEDS) and the only way to rule this out is by gene testing.

Excluding other connective tissue disorders is also not as easy as it sounds.  There is no conclusive test for Lupus, for example, and I’ve never been screened for it to my knowledge.   Even diagnosing arthritis isn’t straight forward, as I know from first hand experience with my best friend who had been ill for 2 years before finally being diagnosed with a rare form called Palindromic Rheumatism (an autoimmune arthritis) which many Doctors have never heard of let alone look for.  I peronally have had general rheumatism excluded but little else.

Again, you’re reliant on your Consultant being extremely thorough and knowledgeable in rare diseases such as Bethlem Myopathy and OI and as we all know this is usually not the case.

I therefore have no clue if I pass Criteria 3 or not as none of these other diseases have ever been mentioned to me and I’ve never been offered gene testing for other types of EDS.

Other considerations

Under the General Comments section below Criterion 3 of the new diagnostic criteria, it is stated that other symptoms should be looked for when diagnosing hEDS, though they don’t officially form part of the criteria because they haven’t been studied enough yet.  They include things like POTS, gastro-intestinal disorders, dysautonomia and chronic fatigue.


HYPERMOBILITY SPECTRUM DISORDER (HSD)

So what happens if you don’t fulfill the diagnostic criteria for hEDS but are clearly hypermobile and having widespread pain and possibly other issues?  You are now classed as being on the hypermobility spectrum and there is now a new classification called Hypermobility Spectrum Disorder (HSD) which has replaced the old Benign Joint Hypermobilty Syndrome (JHS).

There are now different categories of joint hypermobility:-
Localized (L-HSD), in which the hypermobility is confined to less than 5 joints
Generalized (G-HSD), in which the hypermobility is seen in more than 5 joints
Peripheral (P-HSD), where the hypermobility is confined to the hands and feet
Historical (H-HSD), usually when the patient is older and no longer scores highly on Beighton.

Hypermobility in and of itself is fairly common, particularly in children, and can often be symptom-less and of no consequence.  However, a diagnosis of HSD should be considered if other symptoms are present but the diagnostic criteria for Ehlers-Danlos Syndrome isn’t met.  These symptoms include:

  • Trauma.
  • Chronic Pain.
  • Poor proprioception (ie being clumsy).
  • Other musculoskeletal traits, eg. flat feet, mild scoliosis, kyphosis or lordosis (ie upward or inner curve of the spine).
  • Other issues, such as POTS, gastrointestinal problems, anxiety, bladder dysfunction.

MY CONCLUSION

Since the introduction of the new criteria in 2017 the criteria for hEDS has become more strict so it’s harder to obtain a hEDs diagnosis, but the new HSD incorporates everyone with hypermobility, which wasn’t the case before.

It is now recognised that issues such as POTS, Mast Cell Activation Disorder, Chronic Fatigue, Gastrointestinal disorders and Dysautonomia are seen more often in the hEDS and HSD population and being diagnosed with these should point a Doctor in the direction of looking for connective tissue disorders, but not enough is known about them yet to include them in the actual diagnostic criteria, which is a shame because we all know how prevalent they are!  However, papers on all these symptoms are included as footnotes in the new criteria and can be found here.

This review has only focused on Hypermobile EDS as that is the type I have – different criteria apply for other forms of EDS, such as Classical and Vascular.


Further information

You can read all about the new criteria for hEDS here.

The criteria for HSD is here.

An excellent toolkit for GPs can be found here and is actually easier to understand than the official EDS information listed above!

 

 

 

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.