Tag Archives: diagnostic criteria

That darned F word

Arrrrgghhhhhhh!!!!!  I’m glad I’ve got that out of my system because the current trend of confusing “chronic fatigue” with M.E. (I’m not using the term ME/CFS because I don’t have CFS) makes me want to scream.

A man wrote a post on the M.E. Association’s Facebook page this week saying that for the last month he’d been getting up at 7am, going to the gym to lift weights, having a steam session, then going back in the gym to lift more weights and do some cardio and was feeling much better.  There was understandably outrage in the comments section.  For a start most people with M.E. struggle to surface out of bed before 10am and any kind of extreme heat, like you’d find in a sauna, would floor them.  Our muscles do not function correctly and lifting my toothbrush can be beyond me some days – lifting weights on a regular basis would be absolutely and utterly out of the question.   Whoever diagnosed this person with M.E. needs to be sacked.

Ehlers-Danlos syndrome can cause significant fatigue, but that doesn’t mean you also have M.E.  That’s because M.E. has nothing to do with being tired, and lots to do with being ill, following trivial activity.  And by trivial I don’t mean a session at the physio (I wish).  I mean having a shower or getting dressed.

When you get the flu (the proper flu, not man-flu or a cold) you lie in bed with every muscle aching and feeling like cement.  Your brain pounds with cotton-wool fog, light and sounds are too bright and too loud, your throat is swollen and sore and walking 10 steps to the bathroom is like tackling the north face of Everest, after which you collapse back into bed feeling like you’ve been battered by a hammer-wielding maniac.  That is what M.E. feels like………..every second, of every day, of every week, of every month, of every year.  If you can call it ‘fatigue’ at all it’s an immune-induced ‘fatigue’ that is crushing and stops you doing the normal tasks of daily living every day.  It is not tiredness after activity, it’s feeling flu-like with associated all-emcompassing heavy exhaustion beyond most people’s understanding of ‘tired’.  And, more importantly, it is not relieved by rest.  So, after I’ve done something I shouldn’t – like a little bit of gardening – I wake the next day feeling poleaxed.  I spend the day resting in a foggy, poisoned stupor and wake the next day even more poisoned, exhausted, achy and foggy than I did the day before.  Each person with M.E. is different, but for me my symptoms peak 48 hours after the activity and finally abate after about 4 days (by which time I’ve done some other task of daily living and the cycle starts all over again).  And many forget that mental over-activity brings on the same symptoms.  If I’m on the computer for too long I start to get a sore throat, feel dizzy, nauseous and generally feel fluey and unwell.

The cardinal feature of M.E., I am sick of saying, is “post-exertional MALAISE”.  I’m not even sure ‘fatigue’ is mentioned in most of the diagnostic criteria.

The problem arose when M.E. was re-branded as Chronic Fatigue Syndrome.  This became confused with Chronic Fatigue which is a symptom suffered by millions of people with a hundred different diseases from insomnia to cancer, and the general population on a Friday afternoon!  IMHO, ‘hypermobility’, ‘hypermobility spectrum disorder’ and ‘Ehlers-Danlos Syndrome’ suffer in a similar way.  People with generalized hypermobility query whether they have HSD or EDS, people with HSD query whether they have EDS (some do, just like some people with CFS have M.E., but then equally some don’t) and EDS becomes a diagnosis that few qualify for even if they have it, just like true M.E.  It’s all such a bloody mess.

“Who cares?” I hear some of you say, “it doesn’t matter what you’re diagnosed with as long as you are diagnosed and get treatment”.  But actually, it matters a great deal and here is why:

  • If you are diagnosed with M.E. when your fatigue is down to another reason, such as Lyme or Lupus, you won’t receive the treatment you need for the actual disease you have.  There is no treatment for M.E., so other than being offered some CBT to adjust to living with a chronic illness you will be left to rot.  That is not good if you have fatigue which could be treated.
  • If, like me, you are unlucky enough to have both M.E and hEDS you sadly will not be able to tolerate the physiotherapy exercises needed to treat your hEDS.  If I hadn’t had my M.E. diagnosis I would have pushed myself to do the hydro and physio recommended for my hEDS and made myself sick as a dog – possibly even causing a permanent relapse from which I never recovered.  If, however, you have simple ‘chronic fatigue’ doing the recommended physio for hEDS might help – at the very least it wouldn’t lead to a deterioration in the condition.  Being correctly diagnosed is vitally important.
  • Any research carried out on an incorrectly diagnosed population is pointless.  If research on M.E. includes people who actually have simple ‘chronic fatigue’ and they get better by lifting weights, then all people with M.E. will be deemed to be ‘curable’ by lifting weights, when actually lifting weights would be hugely damaging.  Similarly with hEDS, if under the new criteria someone like me is classed as having HSD when I actually do have hEDS I will skew any research into HSD because I don’t in fact have it.  And research into hEDS will only include the most severely affected which skews research into hEDS too.  I didn’t start dislocating my joints until I was in my forties, so I wouldn’t have qualified for a hEDS diagnosis when I was younger despite having non-joint-related symptoms from childhood.

There is an alarming trend in the M.E. world for researchers to be studying ‘fatigue’ and energy production when the fatigue of M.E. is a by-product of immune dysfunction, just like it is when you get the flu.  The fatigue experienced when you have flu is just a symptom of the disease, not the cause.  It all feels like a huge waste of time and resources and will lead to yet more blind alleys (remember I’ve been following research into M.E. for 20 years now).

The bottom line is we urgently and desperately need a test to distinguish M.E. from CFS and chronic fatigue, just as we urgently and desperately need a test to distinguish hEDs from HSD and generalized hypermobility.  I know clinicians have tried their best to differentiate these diseases using symptoms as a guide but it doesn’t work, particularly in hEDS where symptoms can appear or increase as you age.

And speaking of age, there has not been one single study to my knowledge on older people with M.E. or older people with hEDS.  Research always tends to focus on children and young adults for reasons I can’t work out.  We desperately need studies on the effects of long-term M.E. on the over 50s, and we absolutely need this age group studied in hEDS as it is not uncommon for symptoms to suddenly appear or increase when you hit forty particularly in women. Even a simple survey on the over 40s undertaken by the EDS charities would be better than nothing.

Whichever bright spark decided 20 years ago to rebrand M.E. as CFS has a lot to answer for and if I could get my hands on them I wouldn’t be responsible for my actions.  And in 20 years time I may feel the same way about the current clinicians who rebranded hEDS and HSD!

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.

ME: the facts

Following on from yesterday’s post, I am a little calmer this morning and thought I’d share a few facts with my readers to balance EDS UK’s appalling article.

1. ME is not a psychological disease.  It is classed by the World Health Organisation as a neurological disorder (Reference 93.3). The UK Department of Health accepts this classification and recognises ME as a neurological condition of unknown origin.

2. It has strict diagnostic criteria.  Admittedly they need to be revised as they are too broad and capture a proportion of people who don’t have ME, as well as those that do, and this problem with diagnosis is something I know the UK ME charities work tirelessly on with the Government.  The Holy Grail of a diagnostic test would end this confusion.

3. If your symptoms eventually turn out to be due to another disease and not ME, it means you have a rubbish doctor who hasn’t done his job properly, not that ME doesn’t exist.

4. You can have other conditions alongside ME.  Just because you have one disease doesn’t mean you can’t develop another, eg Ehlers-Danlos and POTS.

According to Cathy Collier, I don’t have ME and need to look harder for what’s actually causing my symptoms, so I thought I’d take a look back at the all the diseases I’ve had ruled out and see what’s left.  I don’t have:

  • Multiple Sclerosis or other nerve or neurological disorders
  • Peripheral neuropathy or other neuropathies
  • Cancer
  • Thyroid disease
  • Hormone imbalance/disease
  • Blood disorders
  • B12 deficiency
  • Iron deficiency
  • Vitamin D deficiency
  • Coeliac disease
  • Gallbladder disease
  • Liver disease
  • Ovarian disease/PCOD
  • H Pylori infection
  • Stomach ulcers
  • POTS
  • Periodic limb movement disorder
  • Sleep apnea
  • Gastroparesis
  • Osteoporosis
  • Lyme Disease
  • Chlamydia Pneumonae
  • Mycoplasma infection
  • Allergies
  • Epilepsy
  • Autoimmune disorders
  • Arthritis or other inflammatory diseases
  • Mental health disease

So, other causes for my symptoms have been ruled out which is one of the diagnostic criteria for ME.  In addition my illness:

  • Followed an acute infectious event (in my case a tummy bug).
  • Became chronic.
  • Reduced my pre-illness activity to under 50%.
  • Includes the hallmark symptoms of ME, such as post-exertional malaise, delayed fatigue following activity, fatigue unrelieved by rest, sore throat and tender lymph glands indicative of ongoing immune activation (amongst a dozen others).
  • Being treated for my other diseases, eg EDS and MCAD, had no effect on my ME symptoms whatsoever.

Just like the hypermobile form of Ehlers-Danlos, ME is a diagnosis of exclusion, a history indicative of the disease and hallmark symptoms, such as post-exertional malaise and delayed fatigue unrelieved by rest which are almost exclusive to this illness.  ME does exist as an illness in its own right and it’s possible to accurately diagnose it, although to rule out all the other causes for your symptoms can be a long and frustrating process.  However, it took 42 years for my EDS to be diagnosed so long and arduous journeys are not unusual in the chronic and misunderstood disease world.

There has been a two decade long battle to get ME recognised and there is now a huge amount of research pointing towards problems with muscles, nerves and the immune system which refutes absolutely any suggestion that ME is a psychological disorder.  In addition there are many other diseases for which no single, diagnostic test is available (hypermobile EDS for one) yet no-one suggests for one minute they are imaginary or don’t exist.  I can’t believe, in 2015, I’m still having to defend the condition against this sort of ill-informed prejudice.  When is it going to stop?