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

MUSC student and Charleston teen at forefront of rare disease breakthrough

"When Cortney Gensemer visited her professor during office hours to discuss her Ph.D. dissertation, she had no idea she would be able to study her own disease...

She and the team have so far identified the first strong candidate gene for hypermobile EDS, which could lead to new ways to diagnose patients earlier and more definitively.

“I didn’t realize how powerful my own story could be,” Gensemer said. “An EDS Institute is something that patients like me have dreamed about our entire lives.”"

https://www.postandcourier.com/heal...cle_69070ccc-8502-11ec-9f12-9342b350ce62.html

 

So, I know someone who has a post-viral disease and who was diagnosed with hEDS afterwards. She has been very afraid of also having CCI ever since and of having to undergo surgery and from time to time I have to dig up things to convince her otherwise.

And today I've found this while I was searching. I don't know anything about this clinic but I thought it was interesting that they even wrote a short guide for these people:

Increasing numbers of patients are seeking out treatments such as prolotherapy or even neurosurgical fusion surgery to treat a wide range of symptoms which could be caused by ligamentous laxity or damage affecting stability at the upper cervical spinal segments.

The problem is that most of these patients have been searching for answers to their problem on the web and in effect self diagnosing. Unfortunately some authors on the web make strong claims for the potential benefit of prolotherapy persuading patients, many of who are desperate for help, to seek this treatment for themselves.
This short posting is an attempt to introduce some clarity to the issue.

In my experience there are three types of patients seeking out this treatment.
The first is the group with hereditary connective tissue disorders such as Ehlers Danlos syndrome whose various symptoms overlap with the cervical medullary syndrome (see below). Not all of these patients have actually been formally diagnosed with EDS but one or other practitioner has told them they are hypermobile.

The second group is those with a history of trauma to the upper neck such as whiplash syndrome or a direct fall causing compression or extension/ flexion strain (without actual bony injury) resulting in prolonged symptoms such as headache and/or neck pain.

The third is a group of patients without any history of neck or head injury or diagnosed hypermobility syndrome but with wide ranging symptoms which overlap with the cervical medullary syndrome and other conditions such as post viral fatigue syndrome or ME, fibromyalgia or physiological and autonomic disturbances found in the EDS group. One reason for this is that it has been suggested that the vagus nerve, whose origin in the cervical medulla lies in close proximity to the nerves entering from the upper cervical segments, may be affected. The vagus nerve controls widespread bodily functions (digestion, heart rate and rhythm, blood pressure, breathing) and therefore disturbance can cause a plethora of symptoms not unlike chronic anxiety. Complicating this picture is the strong association of anxiety and depression with chronic musculoskeletal pain particularly when undiagnosed, dismissed or simply unresponsive to common therapies.

(...)

Fatigue and neurological symptoms of brain fog, poor memory and concentration may accompany the above but are not a central aspect of the diagnosis. Neither are vascular and autonomic disturbances such as racing heart, faints etc​

You can read the whole thing here: https://www.ovingclinic.co.uk/news/craniocervical-instability/

 

As far as I can see this is Dr J Tanner of Oving Clinic saying 'patients are very confused about CCI and to be honest I am pretty confused and cannot work out well enough what is what to give any useful information but my course of 3-4 injections could be good'.

Dr Tanner is an osteopath

 

I just thought I would share my own n=1 story, which shows that you can have some really bad hypermobility problems without actually having hEDS or similar.

I had badly formed bones in both of my knees, which only became apparent in my teens, as I was growing. What happened is that my kneecaps kept dislocating in certain positions.

I don't know if there are different grades of these dislocations but I remember that a few other young people told me their knee also dislocated. However, they apparently could walk on it and I very definitely couldn't. Whenever my knee dislocated, it was such a terrifying thing that I was too afraid to move it even a millimeter. I really needed a couple of moments to gather all my courage to do so.

These other young people who had similar issues told me their surgery only took one day and they could go home the same day. This is not what happened to me, so this is kind of how I knew mine was unfortunately worse.

I had multiple kneecap dislocations on my right knee (but fewer than 10) and a few on the left, which was less prone to this but had the same problem. I think probably this put a strain on my knee structure after a while, because eventually even walking felt extremely uncomfortable at certain times. I remember when I could barely walk home from the nearby bus stop.

This is when it became obvious that this can't go on and this is when an orthopedic surgeon told me my knee is just too unstable and not really holding things together. That's why even walking started to feel weird and painful and the knee should be operated on. And I shouldn't plan anything for the summer after the surgery.

The surgery was indeed worse than I expected (I was around 20 at that time). I don't really remember the details anymore but I think they reattached a muscle somewhere else, they also cut some bone and rearranged things and fixed everything with a screw. (I also happened to become teaching material to medical students before and during the surgery.)

After the operation, I literally had to learn to walk again on that leg, which really did take a couple of months (starting with physio, knee-bending physio machine, because I couldn't, 7-10 days still in hospital, then crutches etc). But even months later I didn't walk fully confidently (climb stairs etc) for a long time and my knee randomly turned stiff every once in a while even a year later. Eventually it "recovered" but is capable of less than my left leg (which I didn't want to get operated on after this experience - I decided to simply take care of it by avoiding dangerous positions, since it was a bit less prone to dislocations anyway - and so far so good).

So the point of this lengthy story is that this kind of hypermobility in that joint was a pretty big deal to me and caused health issues that couldn't be ignored.

However: although I have some really bendy fingers, I'm actually the opposite of hypermobile everywhere else in my body. I'm practically stiff as a board. I've talked about it a couple of times in this forum that I was very much into fitness and doing crazy workouts and I could never get flexible. Everyone else was always way more flexible than I was, to the point that I even felt a bit bad about it. I think I managed to improve it a bit but only a bit and I was very clearly still less flexible than average. Eventually I accepted that I'm simply built this way and will never be like those yoga people. I'm quite sure I don't fulfill any hypermobility scale requirements.

So, at least in my case it was possible to have serious hypermobility problems without it meaning anything more than that. I was in perfect health until EBV hit me 10+ years later.

 

Posts moved from this thread:
The science of craniocervical instability and other spinal issues and their possible connection with ME/CFS - discussion thread

This is the concern I have. Each one of the researchers that look at this is then either warned off or taken down.

However there is mounting evidence of a big issue
The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders - PMC (nih.gov)

Is Hypermobility Linked To Autism? - Ehlers Danlos Awareness

Autism_EDS_Connection (autismlevelup.com)

why is autism important well many of the young people with ME get that diagnosis too. Mostly when speaking to the parent they notice a change when in PEM state. This is a huge problem because if the Young Person presents in a PEM state gets told they are autistic but when rested and out of PEM state they are told they are not. This then puts the parent under pressure of Fabricating or Inducing Illness. This needs to be explored fully.

Then there is Sutterella bacteria linked to autism with digestive symptoms (ei-resource.org)

You have to wonder what all these bacteria or viral infections do to our connective tissue and why so much research has been stopped in this direction. Anecdotes are the start of any direction when considering research and of finding facts they tell us so much and yet are pushed aside. We need to keep asking the questions of why so many people with flexible joints and why do they change. Then look at which joints are affected and then look the symptoms/body signs soft skin flexible skin or stretch marks etc (with the stretch marks Lymes is known causes these so there is something to look at) and then at those that don't. The question then, what is the difference if any and what are the similarities if any.

POTS, autoimmune and EDS go hand in hand so we need to look.

 

That looks to me more like mounting evidence of poor quality research. There are figures in those papers that simply do not add up as far as I can see. The Swedish study suggests that nearly half of people with autism have the very rare disorder EDS (1/5000)* If they do not have this rare disorder then presumably they have a more general form of hyper mobility - but wait, the association with hyper mobility in general was much weaker in the study.

Also the EDS figure was 70+% female, which is not right for a dominant or X-linked disorder. That is not EDS. None of it adds up.

I am always prepared to be proved wrong but this looks like garbage data to me.
And I am not sure what it has to do with ME.

Edit: *no it's not quite as wrong as that but it is still implausible.

 

And I don't think there is any evidence for that either.

The only way these diagnoses are linked all together - EDS, POTS, autoimmunity, autism, ME/CFS, CCI, MCAS, whatever - is by physicians and psychiatrists on the fringe of medicine who like to give patients disease names. A lot of them, like the Bragee group and Knoop are heavily into BPS too.

I think it does raise issues of FII, but the solution is for these physicians and psychiatrists to stop handing out unjustified diagnoses.

 

There is plenty of evidence for this in patient reports. No scientific evidence, though, because medicine is unable to do this competently. But anyone, like me, who has spent significant time reading Long Covid testimonies can see this pattern easily. I have read thousands by now, dozens every single day for 2 years.

It's in the same category as there being no evidence of harm from GET. The evidence is the patients, the actual real-life outcomes. It's completely absent from academic publications because of massive systemic dysfunction and perverse incentives. For a long time there was no evidence that tobacco is a health hazard. And yet...

At this point sir you should really see the pattern that lack of scientific evidence from what happens to patients doesn't mean much. Questions unasked are always unanswered and all it says is how isolated healthcare is from real life. Medicine is simply not equipped to deal with this kind of issues, not without major reforms.

 

You seem to be missing the point though.

How do these patients come to have these strings of diagnoses? How do EDS and POTS and autoimmune come to go hand in hand - only because the patients have been given these names by doctors! These are not 'lived experiences' they are what people have been told by medics.

The Swedish population based study quoted by the review quoted by Tilly is actually very interesting. It is basically saying that people with EDS have more of all sorts of psychiatric problems (yes psychiatric). Interestingly people with 'hyper mobility syndrome' do too but less so.

Now either EDS is distinct genetically from HMS, with distinct genes, in which case it doesn't make much sense that both conditions have a high relative risk of various psychiatric problems, or 'EDS' diagnoses picked out of the Swedish medical register are pretty much labelling the same group as 'HMS'. The authors admit that they have no idea how accurate the diagnoses are.

Now if the two terms are covering the same 'disease' then why do the people with the EDS label get even more psychiatric labels? Presumably because doctors who diagnose 'EDS' tend to diagnose psychiatric problems more often than doctors who would call it 'HMS'.

The precise interpretation of the data seems to me obscure but I am fairly sure that the main finding of the study is that the acquisition of these diagnostic labels by people in Sweden depends on what sort of doctor they see.

And it is not surprising that some doctors are handing out these bunches of diagnoses because you can see from the material put out by some support groups that they lap it up. And there are lots of doctors around who are only too happy to provide diagnoses that people lap up, sadly.

And it all started with people like Knoop and people are being seriously mutilated by neurosurgeons as a result.

 

I also think we have to be aware of just how much support groups are themselves contributing to this problem. The material from Ehlers Danlos Awareness quoted by Tilly is complete garbage, full of false logic and non-existent facts.

Yes, we should respect what patients experience but, no, the same does not necessarily apply to beliefs about medical issues that look to be based on fairytales.

 

Patterns are seductive, the issue is usually not the finding of a pattern but being able to distinguish real world connectivity from pareidolia.

 

I am not sure pareidolia has come into it much since the supposed connections were 'discovered' by this or that physician about 20 years ago. The patterns of testimony are real. You only have to read the newspapers to see that everyone has POTS and MCAS and EDS and whatever. And they are a function of real world connectivity - the connectivity from doctors who hand out diagnoses in six-packs. I know of physicians who will trot out these lists whenever given the opportunity.

 

It's very rare for patients to hear this first from a physician. Not even 10%. They are dirty words in most clinics and hospitals, never used at all. The vast majority of patients find out, through lists and patterns of symptoms, on social media and bring it to physicians, who then usually say it's impossible. The idea that this is driven by physicians giving this a name is a bit odd, this is absolutely not what is happening to those patients. Some of those descriptions come from physicians who specialized on it, maybe to a fault getting many things wrong, but the vast majority of patients do not have any meaningful access to them and the numbers don't add up anyway, with there being so few specialists.

Most long haulers with POTS are still only told about stress and anxiety, the words, whether POTS or dysautonomia, are generally not used because of the stupid BPS beliefs that fear of illness is worse than actual disease. As if they truly believed that naming them is what brings out the demons.

What I see is a group of patients reporting the same symptoms and health-related impacts, very similar to how it plays out with us and ME. That medicine failed to categorize and define them is not the patients' fault, especially given the common view that patients should be completely passive and uninformed about their health.

I couldn't care less what psychiatrists have to say about that, they don't know anything about this anymore than they know about ME.

 

Some patterns require large data sets and rigorous efforts to find, e.g. mononucleosis causing MS.

 

What I see is patients reporting symptoms of ME/CFS (a real illness) and squeezing those into a whole list of irrelevant diagnoses.

But that is exactly how the whole thing goes around and around. The so-called associations are invented by some fringe physicians wanting to make a name for themselves in practice or even in academia. The fact that these claims are controversial is seductive to support groups looking for 'the one doctor who understands' and so get broadcast on the gossip net. So nothing odd about the idea that it comes from physicians - it must do, patients don't think up things like EDS or MCAS.

 

No one knows or cares about those losers, this isn't how patients are approaching this. It's literally just people suffering from odd symptoms that physicians can't explain and trying to make sense of. This is medicine's job and it's not happening so a void of expertise, made through a legal monopoly, is being filled by people trying to find answers. The fault is entirely the medical profession's and the absolute lack of any leadership.

Basically it's similar to Long Covid, which is dismissed as being too vague, even though it's the whole point. Medicine was supposed to take it from there, categorize and define it, and has failed miserably at it, leaving sick people suffering without end with disabling symptoms.

I frankly cannot express how irrelevant whoever is pushing some ideas behind the scenes are. All there is sick people abandoned to fend for themselves, mislead by the people who are supposed to help because medicine is a dysfunctional crapfest whenever the full pathophysiology of a health condition is known.

 

If we want to help PWME with useful information I think we should know and care. These so-called associations of ME, EDS, MCAS, autism whatever were not discovered by patients. You can trace them back to publications like the original Rowe paper on EDS and fatigue (I think 1999). I was in the 'EDS' business before that and no patient ever tried to persuade me they had anything other than pain in one or other articular loose joint.

And these fringe physicians sit on boards of support groups, give lectures at conferences and write the papers on which the memes are based. It is not that mainstream medicine has not looked to check reliably on what patients have found. It is that fringe physicians have not looked to check on the reliability of their speculations.

And we should care because gathering strings of diagnoses either from a physician or from the chat rooms is a pretty guaranteed way of convincing a doctor who might be open minded and sympathetic that the patient is imagining things. For adults that may not matter but when it is parents collecting strings of diagnoses for children who are then led to believe that their head might fall off and get sent for life-changing surgery for $160,000 things get bad.

The sudden interest in 'MCAS' is entirely due to Laurence Afrin inventing this doubtful category.
The sudden interest in EDS and fatigue is due to people like Rowe, Hakim and Jessica Eccles going around presenting speculation as fact. And so on. It is on the BBC, it is in the papers. In the UK it is everywhere and I suspect the same is true for North America.