EDS and ME - is there a connection?

Not sure, but what are you suggesting? I don't follow your .......

Perhaps just to add that the specialists see people who fit the label on the clinic door because people who fit that label are referred to that clinic. If you did a 'Churchill' clinic you would get lots of bulldog-looking patients with gruff voices but they would not necessarily have anything else in common.

 

But who says this is a pattern? My understanding is that hypermobility is not particularly associated with 'Marfanoid habits' - and that is as long as a piece of string anyway. I had also got the impression that mitral valve prolapse was not associated, despite our paper. Sure there will be people who have several features on a list, but do we have any reason to think this is more than chance? And it seems pretty certain that EDSIII is not one abnormality. People who satisfy the Beighton criteria have quite different sorts of signs. Some have bendy fingers, some bendy elbows, some bendy spines. When I was studying them it seemed to me there was no common pattern.

 

there is a hugh drive and new nosology which goes into this. its international drs not just those quoted above. its a lot of information. eds 3 does not really exist anymore. i will post the links to research which may help you. i will do one post wtih the links. but i can say my prayers behind my back, via pots dr i was seen by many specialist drs. the standard of testing was high. lots was uncovered.

it became obvious that i had eds it was first picked up by a general rhemy dr. we def need rhemy drs in the clinics.

they are really working hard on research now and redefining eds types. lara bloom is a great patient advocate you may want to contact if you are interested in research. as lara is working with many leading drs worldwide

here is the genetic research for heds still recruiting i think
https://www.ehlers-danlos.com/heds-gene-project/

this is the brand new nosology and lots of research here 13 types! you can click on research and see who they are working with. hope this helps
https://www.ehlers-danlos.com/2017-eds-international-classification/

its lot of information but important to understand its not just about being hypermobile. i believe the emma reynolds is on this thread and much better qualified that i to discuss this. as a dr and a patient i would not know how to tag emma in. its quite possible as a novice in this area i am wrong but am happy to be corrected and hand over to a much more experienced advocate here.

 

how many types of eds are there?

 

surely if you are working from the 2017 guidelines you would know the answer to this question??

 

Thanks @Bluesky. I looked at the new classification. From my point of view that sort of defining syndromes by consensus is just not useful. It is what people did in the 1950s until we started having some science. It would be much more useful simply to say that people with ME are more likely to have hyper extensible elbows, as some other simple factual statement. As far as I can see hEDS just means people who are hypermobile who have some sort of circumstantial evidence of heritability (which is almost certainly the case for all hypermobility) and involvement of other tissues, but any you like, and symptoms of one sort or another. The problem is that almost everyone has something that a physician can claim fits each of these criteria. The only thing mentioned that looks as if it might be worth knowing about and might be missed is mitral valve prolapse. But that is common enough in normal people anyway and we have established that it is not commoner in people with hypermobility overall so there is no more reason to look for it in PWME than anyone else even if PWME are more often hypermobile, which seems doubtful.

Sorry to go on about this but I think it is actually worth trying to work out if makes any sense because clearly lots of PWME get told about it and it is not very clear why.

 

its okay to ask questions but you are still referring to eds 3 and there is a long document with research and published data with the new names, i need you to read some of this as i am not well enough to spend hours educating you. i gave you the link. its a lot to take in i understand but makes it hard for me.

i am ill and you have the contacts with dr rodney grahem. you can contact prof newton who has specialised in the misdiagnosis and the me research uk for research too.


we are def missing this dx and the multi system nature of the illness means that many are misdiagnosed because the symptoms are simular in many cases. without testing we won't find these differences.

we also need portable machines as with breast cancer and other unmet needs of the severely ill who cannot leave house or bed.

there are many connective tissue illnesses and causes of hypermobility.

as with pots and oi there are many things that can cause these symptoms. these need ruling out form heart specilists to endocrine also.

endocrine is missing from the me research mostly. though many illnesses can be causeed by endocrine illness and mimic me.

more and more i and others are being re dx with eds. i remember from the cfsac a few years ago a lot of the kids mentioned were hypermobile. this may be a result of m.e. or may be eds

a gp recently said quote oh chronic fatigue syndrome, thats what we dx when we don't know whats wrong end quote

i wish i was more than a lay person who could answer your questions. however i have given you the information links you need to investigate this. you surely have an eye for reading papers than i do.

mainly i agree with you that there are many reasos for hypermobility and also pots.

do reach out to julia newton and ms bloom who are working hard in this area and can help you with these questions.

what i do know is the symptoms are often simular but not noticed and either co morbid or differential dx.

what we want is to get the misdiagnosis down. b12 def and pa also mimics m.e.

we want the specialists in the clinic who have more time and experience to make the RIGHT dx and investigate further.

it is all a work in progress and designed to be chanaged as research developed.

so i encourage you to reach out to drs like prof newton to gain further insight and understanding. also to look further into the links provided to see the research papers and other work in the longer documents and reseach. there is a lot more to it than one sheet of dx criteria to be met.

no its not perfect but none is saying it isl

i do not now how you measure pain in research without self report. maybe you can help me out there?
i always get asked on a scale of one to ten how bad is it.

 

@Bluesky - sorry it's probably me who keeps adding in EDS III to the list of possible names. I know some people see this as outdated, but I also know some prefer it, so tend to //.

I don't think we have any good evidence on this either way. I doubt that any of the available criteria are great at identifying a homogeneous group with some single mutation, but at the same time, I think there's a reasonable chance that there is a sizeable group within those diagnosed within the EDS III/HMS/etc who have some unusual shared characteristics, and who may share some meaningful syndrome, or even just something which predisposes them to developing some form of ME/CFS in response to other problems.

My impression from contact with ME/CFS patients who have gone on to be diagnosed with EDS III/HMS/etc is that they do seem to have more shared characteristics (beyond just having ME/CFS and hypermobility) than I would expect from just chance, but I'm also deeply wary of reading much into this, and am well aware that it's easy for people to get misleading impressions from these sorts of personal experiences.

 

well janet dafoe has one son with eds and another we know more about who has m.e. she stated this on twitter and is very interested in the connection

a very good video from dr grubb a pots specialist in usa discusses both cfs me as he puts it and also eds pots patients.

https://www.youtube.com/watch?v=kBvmtH-16rY

what is great is that there was twenty years between the old criteria for eds heds so the new nosology has worked hard to put the 13 types in and there are as you will see in the videos from the society conference lots of testing that gets to be done to confirm the dx of pots oi. the new nosology is set up to be upgraded as researh areas are found, and i do think that with stricter criteria they stand a chance of finding genetics. it will be interesting to see the research when it comes out.

one thing we have learnt from xmrv retuximab is that we need to keep research open to many areas and not just concentrate on just one area of research.

eds group and new nosology in the area we are talkng about is evolving all the time they do research it will be corrected and added to

so thats why i think that the confusion comes in. fatigue ghastly word but also the stomach probems multisystem problems make it easy for time short gps in uk at least to dump together the two. so no wonder the numbers of patients getting re dx are both visable to us and drs just aren't educated enough to spot the symptoms

we can all do a poor mans tilt test if we are not severe though nigel speight says very ill severe need only just small tilt to get results.

i think it is facinating to see how they are evolving with this movement and we can learn from them a great deal.

as patients we get to observe these things with chatting and social media, thoughthen we have to go to the researchers with out patterns and observations and a dr once told me the patient is tellingn you the answer you just have to listen. so our observations are important.

many of us are more expert than your average gp. so state your feelings and observations.

we do need to heavily look at the miss dx of me to clear our research too.

this is why i love the me research uk article in was it origionally in 2012 which called for clinics with specialities all in one place with specialists who can rule out other illnesses and isolate the pwme. then translatingthis into research.

pots oi can be caused by many things some endocrine. i think much gets missed in the endocrine area for misdiagnosis.

it took me years but i did in the end fight and get to see the top specialists and all i can say is it was great and uncovered a lot.

what was wrong was the numerous tests which caused travelling pem, so i would like to see specialist centres of excellance all overthe country.

 

I would be interested to know what you think they may have in common beyond hypermobility. At the moment I cannot get my head around how one could begin to build a scientific story around this but I am keen to try.

You say we do not have evidence either way but what I have not been saying too directly, out of courtesy to old colleagues, is that I don't think it is quite as neutral as that.

Consider our original mitral valve prolapse (MVP) study. The aim was to take a group of people with 'benign hypermobility syndrome' defined as a syndrome with joint laxity but without internal organ abnormalities. We would then assess whether or not MVP was more common in this group than controls. But of course if we had found that it was then these patients would not have benign hypermobility syndrome. The study was asking the wrong question because it was based on intuitive concepts about 'diseases' that do not belong in modern medical science. And as far as I can see the entire hEDS (or whatever) industry is run by people who do not realise they do not understand what Bayes taught us. They are about as far away from proper epidemiology as you can get.

The other thing that puzzles me is that having worked alongside Rodney Grahame and listened to his lectures over a period of 30 years I have repeatedly heard the claim that people with this syndrome have pain, but I do not remember any reference to fatigue or PEM, certainly not PEM. I have never heard any reference to ME or CFS overlap. And when I did the clinic years ago I do not remember anyone saying they had fatigue or PEM.

It does not add up to me. But looking at it the other way around does add up. When Rodney Grahame's clinic got overloaded with referrals of people with hypermobility and pain the clerks made the mistake of booking the patients on to other consultants lists in order to satisfy NHS targets!! So some time around 2005 I started getting patients who thought they were being referred to Rodney for their hypermobility syndrome. Some had come two hundred miles. And they thought they had hypermobility syndrome because they had been told they had that by a physiotherapist who had listened to Rodney's lectures. Rodney took every opportunity to give these lectures everywhere, with the result that his clinics were vastly oversubscribed. Since at least 10% of people fit hypermobility criteria if you try hard there are bound to be lots of people with pain and hypermobility in a two hundred mile radius, but that does not provide any evidence that they are linked. The whole process is self-fulfilling

Maybe I am being devil's advocate again, but I see 'hEDS' as being about as bogus as 'biopsychosocial'. The same people use both terms. I am totally convinced that there is a very real pattern of physiological disturbance called ME/CFS that desperately needs investigating. But I think that process can only be hindered by muddling it up with associations based on bias. The idea that a heritable condition of connective tissue would predispose to a late onset syndrome of fatigue and PEM makes no biological sense that I can think of. Maybe there is a subtle link that does make sense but I have not heard anything remotely plausible being proposed by the hEDS crowd. It is like BPS - just a wave of a hand and saying it's all connected. Maybe it has something to do with proprioceptive pathways. But if so why has nobody done any research into it? And why would someone with hEDS be so different a year after ME/CFS onset than a year before?

 

@Jonathan Edwards

Just a small point. I think cardiologists/one cardiologist believes that hypermobility is linked to mitral valve prolapse. I was in hospital specialising in lung and cardiology a month ago, and being admitted by a junior doctor taking my medical history: when I got to hypermobility ( diagnosed using the Beighton scale in 2017), his ears pricked up and I asked if my heart prolapse was linked. He confirmed it. When I go in for the surgery I will ask more. No one has suggested that I be investigated for type of EDS; just told I had hypermobility.

It was explained to me that the leaflets of the mitral valve are fine but the annulus( ring) around them had stretched so they were not meeting and oxygenated blood was backflowing. It was described somewhere as if the frame round a French window had got bigger so that the French doors no longer met.

I was diagnosed with ME 10 years ago but no one showed any interest in hypermobility then. Reassessed at my request in 2017: I had to pay privately. My NHS reassessment in 2016 was with a nurse who offered GET. I don't have pain in my joints apart from arthritic pain, and one thumb.

 

I am afraid this may be my fault: Grahame R, Edwards J C, Pitcher D, Gabell A, Harvey W. A clinical and echocardiological study of patients with the hypermobility syndrome. Ann Rheum Dis 1981; 40: 541-6. I don't think it showed anything significant. Myths get perpetuated in medicine, especially when there are people actively promoting them. It is possible that there is a slight statistical association but mitral valve prolapse is common enough in otherwise healthy people.

 

Thank you @Jonathan Edwards

I had been reading your posts about your sense of responsibility for this belief. The belief still is widespread. The doctor diagnosing hypermobility also pointed out a link. I think we have a few patients on here with mitral valve prolapse but I take your point that it's a fairly common condition. I will ask more when I go into hospital.

Could I pose a hypothetical question? If one were treated for ME, say by antivirals, and the ME showed some improvement but the MVP also improved as shown on echos and transosophageal echos, would you consider that to be some evidence of a link? Or just coincidence although I'm not sure that MVPs do improve spontaneously? I realise I'm pushing it a bit but would be interested in your opinion.

 

Totally off the wall question - anyone have any idea if MVP is related to other heart valve issues? i have a MVP with a mild regurgitation, but also had a PDA which was tied at age 5. Im presuming coincidental, but you never know...

@Jonathan Edwards what do you think of the anecdotal suggestion that some of us appear to be suffering from what we have come to know as the trifecta of issues (although it appears to be more commonly 4 issues together) of M.E + HEDS + MCAS (+ POTS)? I myself have this scenario going on and have now met many patients in the same boat.

Is there a serious problem of misdiagnosis going on, or as you suggest a misunderstanding of the research and lack of real knowledge? Its a serious question to me as surely if we get to the point of having POTS, MCAS and HEDS (if its a thing), then perhaps we can start to say we dont have M.E?

I did ask my immunologist this question - which was the primary issue and what was causing which (or which was causing what? am getting myself in a muddle now). In other words which of these is the true diagnosis? She said we will never know, it is all too complex to untangle. Which leaves us with the question - are we misdiagnosed as M.E patients OR are a subset of PWME more likely to also have issues with connective tissue, mast cells, POTS etc?

For me i had M.E for many years before the MCAS or POTS symptoms began, although my M.E was more mild and moderate at that time. Now everything is more severe and no one knows what to do with me, beyond throwing huge amounts of antihistamines down my throat.

I know anecdotal stories are a massive issue, but patient experiences need to start informing research. Are the MCAS people changing the results of general M.E studies? or should we be looking at why PWME are developing these issues. I have tried repeatedly when offered Q and A's with researchers and clinicians to raise these issues of the serious co morbid problems, but no one wants to address them. Can you see our frustration here?

 

Interesting@Justy.
This is where I go back to PEM which I have severely, so I regard my primary diagnosis as ME.

But the mitral valve has to be treated because it is severe. If I had been sent to a cardiologist sooner, then at least I would have been monitored along the way.

Enter the issue of NICE and no further testing. My GP was strict about that.

Am glad I don't have MCAS to complicate matters. It really does need sorting out, and refusing tests for additional symptoms removed.

ETA:I don't know if MVP is related to other heart issues, but I saw about 10 doctors in a recent 3 day period in hospital. They didn't seem to be looking for anything else apart from a thorough investigation which they needed to decide on technique for surgery.

 

I wouldn't consider it evidence for a link. It is highly unlikely that a virus would cause a structural change in a valve and even if it did I would not expect eradicating the virus to result in any improvement in the valve. Disease of the mitral valve due to infection might produce disintegration with leakage or stenosis but I cannot see any reason why it should lead to prolapse - which is due to a structurally intact but 'floppy' valve.

 

I am not sure I make much of it. For me orthostatic intolerance is an integral part of the ME/CFS picture. I am doubtful that relating it specifically to 'POTS' or other forms of postural tachycardia help. So I see ME and OI as one issue. Lots of people are hyperbole so there will be lots of people with ME and 'hEDS' but that does not mean they have anything to do with each other. I am unclear of the status of 'MCAS'. Nobody in the ME research community talks of it. I cannot see anything online at the moment that makes me think anything very specific is pinned down by the term. It all seems vague. So I have no idea about that.

Over the years Rodney Grahame had an ever increasing list of things that were all supposed to be linked together with hypermobility but I never heard of any information about how this was established. To be honest very few colleagues took it very seriously.

 

@Jonathan Edwards

Thanks again for your reply. The way you have expressed it seems logical to me.
But if I take myself as a case study, tomorrow I have to return for a stress echo because an echo under anaesthesia in Dec showed improvement over an echo taken 5 months before. I have been and am on antivirals for the last 9 months. Dr Lerner treated his patients and himself with antivirals and claimed to reverse heart disease.

Thank you for your input. Will leave this here for now so as to remain calm (!) and perhaps return after the test if there are further questions.

EDA: the need to remain calm refers to high HR due to stopping betablockers for test.

 

@Jonathan Edwards
i am finding this tiresome, and a tad upsetting too, having been told all my illness was in my mind i saw a whole batch of specialists with many tests. now i have the delight of you denying this too. i a concerned that you don't understand enough and are not willing to read literature and will be representing us at meetings with nice. becoming worried about you representing us at all. not sure you understand ME and pots oi connection etc either.. this is worrying

there are new research papers and all this is covered in links i have provided for you. i did not want to do this as i am very ill and it has made me ill doing so. despite my signposting you to the info. i now feel just like i did with the many drs who wouldn't believe my m.e. wasn't all in my mind. this actually feel exactly the same dr wont read literature and is working from outdated incorrect beliefs.

perhaps this may be a more fruitful conversation if you actually read the info on the NEW nosology. along with the research papers that were published with it??

 

I have spent much of the last 24hrs trawling through links from what you have cited. I don't find anything that answers my concerns. I am a professor of connective tissue medicine. In fact I am probably the only professor with that title and I chose that title because my basic research programme was into structure and function of connective tissue. I know more about that than the people who talk about EDS. In the rheumatology textbooks I used to write the introductory chapter on joint structure and function. So I know far more about this than anyone else likely to sit on a NICE committee. I admit that there may be material that I have not seen but it is not for want of trying. Nosology is of no great interest - it is just putting things in pigeon holes. We need some underlying science and I do not see it.

I realise that it may be upsetting to be told that what doctors say may be groundless. However, my feeling is that nobody is going to get to the root of ME/CFS if we get confused by ideas that are not based in fact.

I can see that EDS as a label might seem to give legitimacy but within the medical world as a whole this broader concept of EDS is just another signpost to chuck things in the MUS basket. And there is no need to bring in EDS because ME is obviously a real and serious problem. Bringing in EDS is the best way to persuade doctors that everything is in the mind.

I am not going to be sitting on a NICE committee, I am pretty sure. However, judging by the stakeholder meeting last week I think it is useful for me to be involved at that sort of level. I know the way doctors think and the way they interpret what patients say. It is very hard to guess exactly what the right strategy would be at least until we know who is on the committee but I have a pretty good idea of what will turn the opinion in the wrong direction.