EDS, hypermobility, and the link, if any, to ME/CFS

Edit: sorry I completely mis-read this post and have deleted my reply as it's completely meaningless now that I've properly read the post!

 

Right so we have to start to unpick what is actually happening and what we think with a bias mind.

So how many young people diagnosed as ME with PEM have

Fingers that bend back or go into odd shapes
thumbs to wrist
Knees that bend backwards same with elbows
And can touch the floor with straight knees with flat hands

How many children with diagnosed ME have dislocations?

WE DONT KNOW BECASUE NO ONE CHECKS. Is the simple answer and if they do do they do it right and do we understand the relevance?

How many mothers get accused of Fii when their child can do all these things but can't run because it causes pain, twist their ankles on a regular basis, fall over and burse easily and get told they must be hitting their child because they are full of burses? Again we don't know

But mothers are not allowed to question put ideas forward and gauge research because we are Fii?

Are you suggesting Row is wrong? Julia Newton had it right not enough research PoTS Masterclass 2017 - Julia Newton - YouTube then both ME/Chronic Fatigue Syndrome: Not Just Tired All The Time! - Dr Alistair Miller - YouTube even mentions it and give a good summary, that is a bit of a shock considering he came out against the new guidelines, and Julia Newton Standing up for Fatigue - Professor Julia Newton and Professor Jason Ellis - YouTube. In my experience a tilt table test is not needed as a lean test is enough for all to see the consequences in a lot of young people.

Mast Cell needs a carful watch and must not be dismissed. Why have we got to 2022 and not been able to track histamine?

EDS was recognised in my son by an experienced Doctor doing the beighton score without me knowing and suggested I go to rheumatoid to my GP for assistance with this as this was not his field of expertise. The rheumatoid Dr who never bothered to look at his joints stating to his dad that the other Dr was wrong and there is no such thing as EDS. As parents what do you do? We did not know anything at that time so shrugged and went on with CBt and GET and told my son he had growing pains like the Dr told us.

We were then sent to another Dr from the GP and again he went through the beighton test score. Both times the Drs stopped him from bend down to touch the floor because he was dizzy and fell and is why a test was asked for for POTS this time. So two Drs at different times seeing my son for different reasons told us our son had EDS when he had been referred by his GP without me asking or instigating an EDS diagnosis. I was mostly too scared to speak.

Once again I went along to the appointment with cardiologist got a diagnosis of POTS but then they wrote back 3 years later and decided he did not have POTS without testing him again. Just to make it clear I never asked for tests or diagnosis oI had already been accused of FII when he was first ill and could not make it to school so I was silenced at the start. I did need to protect him from accusations and the fact at this time and still is 95% bedbound.

I started to wonder about bendy joints when I saw IIMEC11 02 11th Invest in ME Research International ME Conference 2016 Professor Olli Polo - YouTube and wondered why people just did not look and see if this was part of it all.

Sadly the insurance industry took him down and even though he had been proven innocent and the science proved him right, they never gave back his professorship.

We know the underfunding and the stupidity that have left our world in dire state, this is not the fault of parents like me but the political mess we live in and due to not taking ME seriously. We now have to look and find what is there and has always been there not stick with what we know but to push all we think we know and keep revisiting until we have the correct understanding and the right research based on the physical evidence we have.

Genetics is not the only answer because I did not see the bendy joint that my son has now when he was very young. Most defiantly on in his figures as he has now because I would have picked up on this when he first started to write. He had knocked knees and problems with his feet only and many many bruises but then he was very active.

We need all children with viral infection looked as a matter of course for joints and POTS not for diagnosis but to understand what goes on and how things progress. Put an end to the speculation by getting the data

 

The only valid way to do this is on a population based cohort and the only one I know of - at the ME Biobank - found no relation between ME and hyper mobility I was told.

The problem about rheumatologists using the Beighton score is that they have learnt this parrot fashion without having any real idea what it might mean. As far as I know the first research hyper mobility clinic in the UK was set up at Guy's by Rodney Grahame so that he and I could set up a research study. I learnt at that stage that the Leighton score does not have any special meaning or validity. It was just made up as a way to show lots of joints were mobile and we have no particular reason to thin that is any more important than any one particular joint being mobile. Moreover, a very significant proportion of normal people have 'hyper mobile' scores. It is not a sign of EDS.

 

This post has been copied to a new thread: ME/CFS co-morbidities

I didn't know where to post this, but the ME Association had an online survey about common health conditions in pwME. The current result:

Which of the following conditions, which are more common, or appear to be more common in people with ME/CFS, do you currently have:

Allergies 10.09%

Diabetes - type 2 (non-insulin requiring) 0.84%

Endometriosis 14.09%

Fibromyalgia or a fibromyalgic component 8.27%

Hypermobility syndromes - including Ehlers Danlos Syndrome 3.67%

Interstitial cystitis 1.93%

Irritable bowel syndrome 11.31%

Multiple chemical sensitivity (MCS) 15.55%

Overactive bladder 6.13%

Mast cell activation syndrome 2.38%

Migraine type headaches 9.82%

Postural orthostatic tachycardia syndrome (PoTS) 7.09%

Raynauds's phenomenon (very cold hands and feet) 5.16%

Temperomandibular joint dysfunction 3.65%

 

That is really quite interesting because comparing the range of conditions gives some sort of basis for judging reliability. Most of the results are very much in line with the normal population.

Allergy is said to be about 10%
Raynaud's is about 5%
Diabetes is around 1%
and so on.

The intriguing thing is that hypermobility is normally quoted as around 20% in the normal population, although figures are said to vary from 2% to 57% - both of which are pretty ridiculous. Somewhere around 10% of younger people score positive on Beighton. This survey gives 3.67%. Maybe the wording of the questionnaire was a bit narrow but this does not look like a high rate.

What looks likely from the list otherwise is that there may be some bias to what diagnoses people have been given in the context of ME. Multiple chemical sensitivity might be considered part of the general intolerances of ME anyway and maybe was a popular diagnosis before ME became a widely used term?

The 'fibromyalgia component' rate looks quite low if a lot pf PWME have pain.

 

From the ME Association FB page:

Long Covid + hypermobility syndromes + PoTS

This observation comes as no surprise....

As we have been saying for many years >> PoTS (postural orthostatic tachycardia syndrome) and hypermobile joint syndromes are conditions that can both co-exist with ME/CFS

Checking for their presence should form part of any clinical assessment when a diagnosis is being made

Dr Charles Shepherd
Hon Medical Adviser, MEA​

The article linked:
'I Developed A Nervous System Disorder Called POTS Due To COVID-19—And I'm Not The Only One'

The article talks about the possible connection between long covid, POTS and EDS, but ME/CFS is not mentioned.

 

I think Charles should be a bit more rigorous.

Of course ME can coexist with anything but the evidence for it being specifically associated with hypermobility looks very doubtful. I think to say it is associated with 'POTS' is unhelpful. It is associated with orthostatic intolerance, which in some cases may be POT. But 'POTS' s just POT with ME-like symptoms so it becomes circular.

I don't see any particular justification for looking for these things specifically .he presence of loose joints changes nothing in someone with ME.

 

I was always too ill to participate in this thread whenever it was active but I have had a number of thoughts and questions that I would still like to see discussed. So forgive me for re-opening a long dormant threat with a very long post.

1.) I first heard about what was then called EDS Type 3 back in 2009 through Peter Rowe via an article about him and this topic (probably Cort). I didn’t know what to make of it. I appeared to be 9/9 on the Beighton Scale but I couldn’t figure out why the hypermobility of the joints on this scale was significant or pathological—though I lacked the language to articulate that at the time. When I finally mentioned this EDS thing to my GP in 2013, she packed me off to a medical geneticist who went through the checklist of symptoms, confirmed that I ticked all the boxes, and gave me the diagnosis. When I did my own superficial scan of the literature, I found that this was the only “form” of EDS in which they had not been able to isolate a defective gene nor had they found any collagen pathology. Was this even the same disease? When you, @Jonathan Edwards, began posting about your own concerns, it felt a bit like “ah, so the emperor really might be naked here.”

2.) But whatever hEDS is, I don’t think it’s nothing. I do understand why patients cling to the diagnosis: they are terrified of being dumped back into the “you’re fine!”/MUS category. There is a primal human aversion to lacunae and the systems we humans have created (medicine, insurance, welfare, etc.) seem particularly adverse to uncertainty. Without a diagnosis, patients are treated with indifference at best and often with outright suspicion and annoyance. The craving for validation of one’s suffering is very real and powerful. But shoehorning whatever is going on into a condition that we do not have is absolutely not helpful for patients in the end, especially as it obscures what is, in fact, going on. In addition, I think it might be helpful, Jo, if you could clearly delineate why hEDS as a medical construct may be harmful for patients. I know there is increasing use of the term “hypermobility spectrum disorder” but again, I’m unclear how medically helpful that is. Yet there doesn’t seem to be a good term for whatever it is that we’re talking about.

3.) Earlier in this thread (about a year and a half ago), Jo posted a link to an article in The Guardian about a woman “treating” patients for hEDS. I too was struck by this:

In addition to the fact that women are being diagnosed with this at significantly higher rates, many also say they started having symptoms when they hit puberty. This was certainly my experience. Onset of menarche for me was at 10 yrs 10 months and between the ages of 9yrs 8mo and 12yrs 11mo, I had 4 fractures (5 if you count both malleoli in the R ankle fracture) and multiple soft tissue injuries (mostly sprains but ligament and tendon tears in two instances). By 13 years old, the fractures and tissue tears were mostly gone (aside from a ligament rupture in my left ankle when I was 17). Instead I started having intermittent moments of what felt like joint instability where it would feel like a specific joint would slip out of place only to immediately snap back into place. This was mostly a subjective sensation. Occasionally it would be visible, such as once when I was 13 and showing off at summer came. I was doing the spits when my right patella appeared to move very visibly out of place towards the lateral side of my leg. The girls watching me suddenly gasped while I was inwardly panicking because it did not instantly return and the pain was terrific. It stayed like that for what seemed like a long time but was probably only about 10-15 seconds before snapping back into the patellar-femoral groove. To my surprise, it was merely sore afterwards. There was no significant swelling and I had no problem walking on it (with some initial mild limping for the first several minutes after).

Something similar began happening with my shoulders. When I played tennis for the first (and only) time at 13, I went to serve, brought my arm back to hit the ball and as I swung forward, it felt as if the ball of the joint came out of the socket only to then snap back into place. It felt very icky. But aside from soreness, I had no real injury. Yet this went on to happen with increasing frequency as I aged whenever I tried any sort of overhand motion with any force (say, throwing a ball). Over time, repetitive overhand motion in either shoulder (e,g. breast stroke in swimming) would result in a repetitive strain injury (I was diagnosed with “impingement syndrome” a couple of times). By my 30s, it would take months to recover from “throwing my shoulder out” with a lingering, grinding throb.

While I was always prone to tendonitis/repetitive injury in my thumbs, by my 30s I started having increasing problems with what looked and felt like dislocations of the DIP and PIP joints in my index and middle fingers. It often happened when I was scrubbing a pan or cutting food (say, a steak or egg on toast). It felt icky and would hurt just before it went “out of place” but was not otherwise particularly painful. The tip of my finger would look sickeningly askew but it was easy enough to gently push back into place with no apparent damage. The PIP joint in my left index finger is the only one of these joints to be X-rayed and that was because there was also frank trauma (I broke and dislocated it during a fall when I was 35). The joint was askew in the same way it usually was when it came “out of place.” And the doctor did exactly what I do: gently nudged it back into place.

But I cannot emphasize enough the intermittent nature of all of this. I almost never went to a doctor because usually there was nothing to show anybody. I couldn’t replicate at will what was happening. And when I did go, it was usually to an orthopedist because I had a fracture or ligament tear.

This is a lot of potentially irrelevant personal prologue to get to my questions:

1). What is the relationship of sex hormones to connective tissue like tendons and ligaments? I’ve certainly heard about the (potential?) role of estrogen/estradiol in, say, ACL tears. But could momentary surges in estradiol cause momentary excessive “looseness” in tendons and ligaments? Many of us women have had health care providers diagnose us with “loose ligaments” though I have no idea what that actually means physiologically.

2.) When we talk about connective tissue stiffening with age, how does that work? Since starting perimenopause, I have been having a lot of problems with what feels like certain muscles abrupt and painfully “tightening”. Like someone has just pulled it super tight. In the area around the bicep femoris on my R leg, it was so bad three years ago that I couldn’t lay my leg flat for about a year. And yet the EMG was normal, the neurological exam was normal (by the time I finally saw the neurologist, I could already lay my leg flat), and the MRIs (brain, LS) were normal (aside from some incidental white matter hyperintensities and arthritis in my spine). The symptoms happen mostly at rest (especially during the first 15-20 minutes of rest), but mostly don’t seem to impair function, aside from keeping me from sleep when they spasm. At times it can feel like an intermittent vice grip on those muscles (including the muscles of my upper arm, my lower leg, rib cage, and upper butt). I’m starting to suspect this may just be me. I’ve asked around in EDS groups on Facebook and Reddit about how menopause has changed their hEDS/hypermobile symptoms and have had only a few responses. But it also seems like few of the women in these groups are old enough to have begun the menopausal transition.

3). What about blood flow? Could momentary reductions in blood flow contribute to this? Given all the talk about possible issues with blood flow regulation and the fact that many of the symptoms that people with hEDS are describing sound an awful lot like ME/CFS, I’ve wondered if that could be a factor ever since I sprained my ankle by putting weight on it too soon after it had fallen asleep. Could a much milder, briefer intermittent localized reduction in blood flow cause very brief moments of joint instability?

4). A lot of us have wide spread chronic pain and a diagnosis of fibromyalgia. Is it possible to have pain in ligaments and tendons that doesn’t involve an inflammatory process (i.e. swelling)? What about the fascia? Myofacial pain syndrome is also a common diagnosis among hEDS patients.

Apologies again for such a long post and so many questions. I’ve been wanting to post my thoughts since that Guardian article was posted but was just too sick at the time. Yet it means there has been a lot of time for many thoughts and questions to stew.

 

Hi @Michelle,

Let me try to answer some of those.

Is 'EDSIII/hEDS' actually EDS?
It took me ages to work this out clearly but I now have. The idea of EDS is of one or more monogenic conditions in which a variation in a single gene in your DNA leads to abnormal connective tissue. It is strictly monogenic in that it it is defined as dominant or X-linked recessive. (Which means that the gene is on the X chromosome so men can get the disease with just one faulty X , whereas women would have to have both Xs faulty, which is far more unlikely. This is why haemophilia is almost always in men.)

For the other forms of EDS the single faulty genes have been found. Moreover, you can trace the condition clearly in a family tree. With members have it or not - no in-betweens.

EDSIII was coined as a term when the genes were not known and it was noted that there are some people as bendy as other forms of EDS but without internal organ changes or specific skin lesions. It was always difficult to prove from family history that such cases were monogenic and people forgot about the monogenic aspect.

So by about 1975 it became common to equate 'EDSIII' simply with being bendy. But being bendy is not a specific disease any more than being very tall or having a very receding chin. It is dependent on masses of genes in combination. Other family members are likely to be a bit tall or chinless but all of a mix.

There probably are a few people with a monogenic defect who are just bendy - so would have to be called EDSIII. But 99% of people diagnosed with 'EDSIII', 'hEDS' or hypermobility spectrum disorder do not have EDS. That is why things are so muddled.

Part of the problem is that clinical geneticists probably fall into two camps. One does not like diagnosing EDSIII because there is no gene and so nothing useful to say. The other is happy to used muddled terms and keep people happy with an EDS label. If the patient is paying I suspect they are more likely to be given an EDS diagnosis.

 

Being very bendy or having lax ligaments had previously been called hypermobility or benign hypermobility syndrome. This too got a bit muddled when Peter Beighton devised his criteria for generalised hypermobility. What got lost is that most people with real problems from ligament laxity have problems in specific places. Some have very mobile shoulders and dislocate during tennis. Some have grossly lax knee collaterals so their knees bend inwards at 20° on trying to stand. I had specific should hyper mobility as a boy - Able to touch the ear on the same side by putting my arm round the back of my head and round in front to the ear. I had no laxity in my thumbs or knees.

As you say, @Michelle, until about 1990, the problem with hypermobility was regarded largely as a matter of local orthopaedic problems as above. Moreover, general hypermobility was seen more often than not as a good thing - helpful for ballet dancers and certain musicians. Then a group of people including Peter Rowe, Rodney Grahame and the BPS enthusiast Hans Knoop (also Peter White of Barts) put it about that EDSIII or hypermobility syndrome was a source of widespread unexplained pain or fibromyalgia and also fatigue.

Recent studies show pretty clearly that this is simply not so. But hyper mobility is very very common. About one woman in ten will score 9 or nearly 9 on Beighton. So if 200,000 people n the UK have ME, 20,000 with marked hypermobility will have ME. And for all other conditions that are a bit hard to define, 10% will be very hypermobile. So it is easy for the private practitioners who sell the hEDS label to blame just about everything on it.

 

Women are consistently more mobile than men. There are some bone profile differences involved - the female elbow bones allow more extension and produce a 'carrying angle'. The pelvis is wider, and so on. But ligaments are also generally a bit looser. This develops over time and is probably exaggerated after the menarche from more oestrogen. During pregnancy some extra mobility is due to production of the hormone relaxin but in humans this is not hugely significant.

Ligaments cannot become lax once they have been built, other than maybe very slightly over a period of months with training, although this is probably mostly an effect on other tissues, and over months during pregnancy. The ligament is like a bunjee roof rack cord with a steel core. So it has a bit of stretchiness, although for human ligaments mostly not very much, but once fully stretched it is impossible to stretch further. It is attached with steel shackles that take months to re-model if at all.

So, in simple terms, hormones do not alter laxity short term.

Nor does blood supply. However, what may be quite a common situation - I have done it - is that if you sit on a foot in a cramped boat ride or something and the foot goes to sleep then the ligament is at high risk of sprain because the nerves that protect it through reflex muscle control are switched off. So people slip off a kerb or a step and produce a major sprain.

 

I am not quite sure why we get stiffer with time. Some bits of us, like skin, tend to get looser, but joints mostly lose movement. What is probably the main factor is that the bony rims of joints get 'gnarled'. You can tell the age of someone from their x-rays to within about 10 years just by looking for rim thickening. Just like a tree, points of load thicken up. This is partly in the form of what are called osteophytes - like the bumps on a gnarled tree where a branch comes off. It is also partly due to ligaments themselves turning into bone - syndesmophytes. Thes are more like the long ridges you see along a trunk of a leaning tree. The place affected most is the neck so that a good proportion of people over 65 have very little neck movement other than at the top two joints where the neck can pivot on a peg and some rockers.

 

Most pain around joints and ligaments, and indeed fascia is non-inflammatory. It is just due to friction, pressure or tension stimulating mechanically sensitive nerves. 'Myofascial pain' is a fashionable physio buzzword that does not mean much. But fascia can certainly hurt. The commonest things are shoulder pains around the rotator cuff mechanism and iliotibial tract pain - often called trochanteric bursitis - which most women get at some time in their life.