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

I have discussed this somewhere else either on this thread or another on EDS.
The diagnosis of hEDS can lead to conflict between health care professionals and parents of young people who probably have ME. If different groups of health care professionals give strongly different views on diagnoses it makes for problems with loss of trust. I have worked with the people who promote the hEDS diagnosis in the UK and in my view they do not really know what they are doing.

 

Moved posts

I only caught the last few minutes of this on BBC2 last night;

https://www.bbc.co.uk/programmes/m000mffq

 

I saw the whole programme and it was good to see EDS taken seriously.
The main "treatment" outcomes for this lady were to have a permanent feeding "tube" inserted, so that she stops losing weight and physio to aim to strengthen muscles to reduce dislocations and pain.
She was also grateful that now, having the diagnosis her children can be monitored and advised.

One aspect that I found annoying (also from last week's programme) was the repeated assertion of: or it could be something more serious, ie cancer.
I know cancer can be life threatening and treatments, if available are often gruelling.
However, minimising the debilitating nature of some other conditions, which can be life altering is disappointing.

 

Interesting especially in showing the systemic effects of hypermobility Ehlers Danlos, that it's not just hypermobile joints but can affect all body systems.

 

I have not seen the programme. Did the patient have genetic evidence of EDS?

 

I fully understand people's desire for EDS to be taken seriously and to have a diagnosis. However, having watched the relevant part of the programme it seems that there was no diagnostic test. The diagnosis was made on the basis of a collection of rather general symptoms much in the way that Rodney Grahame used to.

I think this is entirely mistaken. Even if someone has very obvious hypermobility and related skeletal symptoms there is absolutely no way that a physician is entitled to then say that weight loss is due to a hereditary connective tissue disorder. It might possibly be but there is absolutely no way of telling. There are a whole lot of other rare reasons for weight loss that remain just as likely as before.

It is also frustrating that the suggestion is made that going to see a physio and doing some exercises will sort things out. I find it quite hard to distinguish between the management of this case and the sort of approach recommended by Peter White or Esther Crawley.

There is also a catch22 involved. The first and last research study I did on hypermobility was to look to see if mitral valve prolapse was a feature of benign hypermobility syndrome. Benign hypermobility syndrome was defined as joint hypermobility without internal organ changes. So you see I was being asked to contradict myself. If mitral valve prolapse was a feature then it could not be BHS. Much the same I think applies to hEDS. If there is a genetic syndrome with hypermobility and gut stasis it is not hEDS, it is hgEDS. And without any genetics a physician has no clue as to whether someone with 'hEDS' in fact has hgEDS if such a thing exists.

I am sorry to upset people but this is exactly the sort of pseudo medicine that I have been worried about.

Edit: After looking things up I realise that I know the rheumatologist involved very well. It doesn't change my view, unfortunately.

 

@Jonathan Edwards
Can I ask a bit more about why you call hEDS a make-believe diagnosis?

I have quite a few friends and acquaintances with this diagnosis, and I would say they fall into 3 groups:

1) people who are basically healthy but with niggling joint issues and maybe a prolapse (at a young age, without pregnancy)

2) people who are very sick with what looks a lot like ME, and also have widespread joint issues.

With these first two categories, I can understand dismissing the diagnosis, because with the first category there’s nothing much wrong with them, and with the second category an ME diagnosis could be said to cover their issues. But with the third category, I see a clear demonstration of the existence of a distinct syndrome:

3) people who don’t have any ME-like fatigue or PEM, but who have widespread pathological joint issues. I’m talking about people who have very hypermobile, painful, and frequently dislocating ankles, knees, hips, shoulders, wrists and hands. Their problems are not with just one or two of those joints, but ALL of them. These people are often wheelchair-bound by their joint issues, or they might try to use crutches but find it increases their hand problems. They are much more functional than the average ME patient, and can work etc from their wheelchairs. In fact I know several doctors who are wheelchair-bound by these types of issues, but are still able to do their work as doctors perfectly well.

This 3rd category is a large group of people, with the same or very similar presentations. Surely this justifies a Syndrome to fit this presentation?

 

Dear @saltcaramel,

You say that the category 3 is common. Yet I never came across more than two people in my entire career as a rheumatologist who might begin to fit this description. And as a rheumatologist I was the obvious person for someone with widespread joint pain to go to. I met a child with severe knee laxity, but she did not have dislocations and the problem was chiefly limited to the knees. I met someone with EDS skin changes, but I think they would fall under type 1 EDS.

So I am puzzled. I am also puzzled by the claim that people have recurrent ankle dislocation. Ankle dislocation is almost impossible anatomically without major irreversible ligament rupture. The knee and wrist similarly. Hip dislocation is more or less unheard of without dysplasia. The shoulder is the only joint that can dislocated and relocate reasonably easily without ligament rupture. So I have to wonder whether in fact these people you describe actually have dislocations.

(Note that I am not querying the presence of symptoms but the explanations. If I remember rightly the 1999 Peter Rowe paper referred to ankle dislocations, which seemed to me most bizarre since ankle dislocation is such a major injury.)

The literature suggests that maybe one person in 5000 has EDS. So I wonder how you have come across so many?

I would be interested to know.

 

Indeed, it’s also puzzled me that out of my real-life friends (not through any health groups - so that’s a fairly random sampling of several hundred people) I have 3 friends who fit this description. If you take into account my health groups, it’s many more.

I believe the dislocations are only partial, and I haven’t heard of any associated with ankles. The ankle issues seem to be mainly pain & weakness. But I have heard of hips, shoulders, fingers and even coccyxes being partially dislocated, regularly. Some of these people do seem to have the skin changes as well, but I haven’t quizzed them on that so I can’t be sure. Surely if they had EDS type 1, they would have been diagnosed with that?

I believe that while the other forms of EDS are truly rare, the hypermobile type is not rare - it’s just underdiagnosed. Of course, you may prefer to separate it from the other forms of EDS and call it something else entirely - but it’s definitely a thing.

 

But you mentioned ankles, which is why I queried it.

There is no such thing as partial dislocation generally speaking. There is something called subluxation but even that is pretty unlikely even in people with EDS except in shoulder and finger joints. Hip dislocation is a major event, not something that pops in and out. I have never come across it in someone without dysplasia. I have also never heard of coccyx dislocation other than as part of trauma. Moreover, I am not sure it would matter. I find it very hard to believe that these are the real explanations for peoples' symptoms.

hEDS is said to be associated with a 'velvety skin' but nobody knows what that actually means. I have worked with physicians who say they can recognise it but I am very sceptical. Objective skin changes occur in classical EDS 1 but as far as I know there are no objective changes in hEDS.

There is absolutely no evidence for there being a common form of EDS called hEDS. hEDS simply describes people who are hypermobile and they do not have a specific Mendelian genetic problem. they are just more bendy people. You may be new to the forum but I have said many times before that I worked with the UK 'experts' on this for forty years in one way and another and I never saw any evidence for the hyper mobile people who came to the clinic being usefully describable as 'EDS'.

There is absolutely no evidence for this being 'a thing'. Hypermobile people are completely heterogeneous, varying with gender, race and different patterns of flexibility. I actually used to have the most flexible shoulders I have seen on anyone. I was able to put my hand round the back of my head, round the front and then touch my occiput. But apart from 90 degree extension at the little finger MCPs I had no Beighton features (I scored 2). The whole thing is just a wide variation of normal. Moreover,the only population studies we have of any merit suggest that hypermobility is not associated with generalised pain very much and certainly not with fatigue.

That leaves some big unanswered questions but the point of science is to recognise when questions are unanswered rather than pretending they are answered!

 

Yes, I’m aware of your stance on this. I still don’t understand how a group a people with clearly pathological hypermobility to the point of needing wheelchairs could be described as “a variation of normal”. Yes hypermobility is normal. What they live with is definitely not. Nothing you have said convinced me that these people should not have a diagnosis to describe their problems.

 

I think you have misunderstood me.These people you describe are clearly not normal. But I very much doubt that hypermobility is the cause of their problems. So each must have some other undiagnosed problem. For some that may be the same and others different but we do not know what the problems are. That is the unanswered question. The problem that I do think we understand is that physicians are giving people diagnoses without any sound basis.

 

EDS isn't a single condition, but a group of syndromes. Depending on the SNPs involved, the consequences can be varied.

 

There are 13/14 types of Ehlers Danlos, most of which are very rare, and all of which except hypermobile Ehlers Danlos have a genetic marker. Hypermobile Ehlers Danlos, also known as Ehlers Danlos 3, is the commonest type (about 1 in 5000 people) and, interestingly, is increasingly being accepted as affecting many body systems in itself rather than just joints.

It is the systemic issues that are of particular interest (eg the patient with gut issues) in the TV programme discussed above. https://www.bbc.co.uk/programmes/m000mffq

 

@Binkie4 But it isn't accepted as such by the medical community at large, only by a small group of 'experts' who devise criteria for 'hEDS' based on what they see in clinics. The great majority of my colleagues see this as 'not fit for purpose' but unfortunately professional bodies are not prepared to make statements because some of the 'experts' are politically powerful. If a clinical picture includes other body system problems then pretty much by definition it is not just a 'hypermobility problem' (it isn't EDS because that implies a Mendelian monogenic inheritance).

I made a comment about the tV programme. The rheumatologist had no justification for making the diagnosis of inability to eat due to hEDS. I know this rheumatologist well. She was one of our trainees for a while. There is nothing in the programme that would allow that conclusion to be drawn.

 

@Jonathan Edwards

Thank you for your reply. I do hear what you are saying and appreciate you engaging with the issue.

It is difficult however, as a patient who has been told by two separate NHS Professors ( not the recognised 'experts' that I think you are referring to, but others who could perhaps be called the ' medical community at large') that I have hypermobile EDS, and that the diagnosis is based on the whole clinical picture. This diagnosis does seem to explain a lot of what I am experiencing which makes it difficult to walk away from.

I do appreciate your input however. What we need is the genetic marker for hypermobile EDS.

 

The space between @Jonathan Edwards position, and @Binkie4 and @saltcaramel’s position needs filling with good research. Current research into hEDS is inadequate. Something causing suffering and disability is happening in the bodies of a group of people which includes my sister.

I don’t know if the current diagnosis narrative is a hindrance or a help in getting good research done, given the lack of acceptance Jonathan describes. Is it an issue? I would be interested to know (I don’t keep up with the area of hEDS)

 

My youngest daughter has an hEDS diagnosis from when she was 17 (she’s now 24). She has very long and slender fingers and toes with fingers so double jointed she can’t use a knife and fork properly because her fingers literally bend backwards when she tries to put pressure on them, long limbs, tall slender body, unstable joints which click and clunk and cause her pain and she often feels like they are “wrong” and need to be “put back into place”, joint and muscle pain and exhausting fatigue, soft stretchy skin, she bruises easily, has digestive problems, (her heart is fine, she had it all checked out) and POTS. She often has to use a wheelchair when out as her legs feel unstable and she gets tired very easily and then suffers with pain and fatigue afterwards. We asked about a genetic test for EDS (both me and her dad have hypermobility, as do both our fathers and I used to have hip subluxations as a child with no hip dysplasia) and we were told it wasn’t necessary as she had all the symptoms. She definitely has something clinically “wrong” as she’s very disabled by this, but if it’s not hEDS, what is it that people like her are struggling with?

Our two other kids, one boy and one girl both have joint laxity issues but not the same spectrum of other symptoms that our youngest does. Our other daughter also has more issues with her joints, lots of soft tissue injuries, than our son does, which we have been told is probably due to the higher levels of progesterone in female bodies making the ligaments more pliable (makes sense to me but not sure if it’s true). Some of this is, I’m sure, just the normal spectrum of hypermobility - despite my hip issues as a child and clunky shoulders, elbows and wrists, I never had the same level of pain and fatigue our youngest daughter has until I got ME, I was always strong and reasonably healthy until then. And my husband has never had issues apart from being abnormally flexible, so what could be going on with our youngest that makes her symptoms so extreme? I suppose we’ll never know if we can’t get a test.

edited to add further details.

 

The key issue is whether or not hypermobility has any causal association with either multiple soft tissue injuries (subluxations, sprains etc.), ME-style 'fatigue' problems (PEM, brain fog, POTS etc) or internal organ problems like gut issues.

There is no doubt that some people with lax joints get repeated strain or sprains and some can sublet hand joints, which in a few cases can lead to actual dislocation which can cause bruising and pain. But the stories of multiple dislocations of larger joints sound to me very implausible. And the evidence for any link to ME symptoms or gut issues looks to me to be pretty much zero, if you take into account selection bias at clinics.

Let me try to do some numbers. There are 2400 members here. We are bringing in family stories so we are drawing on the family experience of maybe 10,000 people. We would expect two to have true EDS with known genes. We would expect about 1,000 or maybe even up to 3-5,000 to score as hypermobile using Beighton scores. The realistic figure for the general population is about 10% and it will be skewed up a bit because rate are higher in women and a majority of members are women. So say 1,500. Of those I would guess maybe a fifth would be 'very hypermobile' as in being able to do tricks with finger joints - i.e. 500.

So we are fully expecting about 500 people in forum families to be seriously 'double jointed' without that having anything to do with having any symptoms related to ME. Some of those will have repeated sprains or hand joint dislocations.

So I think we should be careful about jumping to any conclusions about links between hypermobility and MEor gut symptoms. Another thing is that although it makes sense for hypermobile people to get pain in specific joints when they sprain them there has been a story that they have pains all over all the time, unrelated to specific sprains. I am sceptical about that and would ask whether, just as for ME, there is a mistaken attribution of what is otherwise called fibromyalgia to hypermobility.

So what has been done in terms of research? What stands out for me is that the physicians who talk of hEDS and sit on committees making up criteria, some of whom I know well, over the last 40 years have done
no useful research at all to try and answer the basic questions above. The repeat anecdotes about their clinic patients but never do proper studies. On the other hand those who more cautiously study hypermobility, as simply defined by a Beighton score, have done a few epidemiological studies. These suggest some link to pain at specific sites but as far as I know no clear relation to anything like ME. Done the other way around, the ME Biobank cohort did not show excess hypermobility, I am told.

I am not sure that genetic tests and names are the important thing here. What we want to know is whether or not hypermobility actually causes any or all of these symptoms. For that purpose we can just do a Beighton score, although I think it might be much better to look at mobility in specific joints.

I have a strong feeling that the term hEDS is a convenient way for physicians to not do research. It allows them to sound clever and give a diagnosis that solves everything - cause explained - without actually doing any science. (A lot of my colleagues were at one time trainees with Rodney Grahame and it is so easy to use hypermobility as a quick way to explain the cause of their symptoms that I suspect quite a few do. Some may now be professors.) The science comes from researchers who are interested in finding out the truth, who tend not to be people with large private clinics but clinical physiologists on university salaries.

So I don't think we want research into hEDS. We want good sized epidemiological studies looking at joint mobility and symptoms. There isn't going to be a test for 'hEDS' because hypermobility is, in the great majority, polygenic - so it is not that you have it or you don't have it.

 

So am I understanding your arguement Johnathan is "hEDS doesn't exisit because I haven't seen it?"

Being skeptical is all well and good and objectivity is a valuable quality in a clinician. Being an ostrich isn't. I lost almost 2 decades of my life from dealing with doctors who share your mentality.

The geneticists and specialists I've seen all say opposite of what you do. There are definite physiological links between hEDS and POTS, and hEDS is most definitely a physiological disorder.

The HEDGE Study is currently under way to gain a greater understanding of hEDS.
https://www.ehlers-danlos.com/hedge/

One of my doctors is a leading ME and POTS researcher. He maintains both a practice seeing patients while conducting research and innovating treatments. I certainly wouldn't describe him as lazy or a bad scientist. Instead he was one of the kindest doctors I've ever met, since he really understands how debilitating these health issues are.

I'm also more than a little mystified by your stance since prettt much everything you are skeptical of is common in people I know who have hEDS.