Tag Archives: criteria

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!).

 

 

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!