EDS and ME - is there a connection?

Article by someone with both EDS and ME:
Mast Cells & Collagen Behaving Badly
My journey with Ehlers-Danlos Syndrome, M.E. & Mast Cell Disease

"Following on from my blog post on Types of Fatigue I was asked by one of my followers to do a post on the various types of pain I experience. When I was healthy I, like most people, had only ever experienced short-term acute pain for which an end was in sight and had no idea how difficult living with a chronic pain condition could be. Pain, like fatigue, is often talked about as a single entity but there are lots of different types of pain sensations which are often difficult to describe, but I’ve given it a bash below."
https://mastcellblog.wordpress.com/tag/hypermobility/

 

An interesting history @Michelle. The detail you give allows me to get a pretty good idea of the biomechanics over 20+ years. And with that detail the 'diagnosis' of EDS does not actually add anything. (I will come back to that.) An unlucky bimalleolar fracture can produce lifelong disability, especially if there are knock on biomechanics effects on other joints. No need for a paediatrician to talk of growing pains.

I think it is very plausible that muscle disuse can contribute to joint instability after a period with ME. But that would be biomechanically distinct from joint laxity based on ligaments, which is the basis of mobility in EDS, although the consequences may overlap.

I am tempted to think that maybe a number of PWME develop joint instability from reduced muscle use. That would not be EDS, it would be the effect of ME.

I think we can exclude that. Loss of blood supply to a joint does not lead to laxity or instability. If it leads to anything it would be death of cartilage with arthritic change that is very obvious. These things are not difficult to work out from examining patients. The problem is that most rheumatologists know almost nothing about joint physiology. I tried to get questions on this included in proposed final rheumatology exams but my colleagues said it was too technical and science based!!

That seems to me a pity - you were let down. I see no reason why a specialist properly trained in joint biology could not have given you a detailed explanation of what was going on and what to expect. And there would be no real need to use the term 'EDS' as we probably agree. BUT, without that luxury it makes sense that a name provides some sort of handle that at least appears to provide a justification for problems in the social context.

I guess what worries me is that using EDS as a justification for problems that are actually part of ME itself runs the danger of perpetuating the underrating of the importance of ME itself as a source of disability. Nancy Klimas is supposed to have said that ME is worse than AIDS. I am not sure about that but I am pretty sure it is much more disabling than hEDS. I have a feeling that doctors providing the EDS label are really doing the ME cause no favours. ME is the big problem.

 

Interesting thought. So this is one of the things I'm wondering now about my sister; it might make an alternative sense of her problems. I could do with asking her more questions.

I'm a bit shocked!
However, it took a third rheumatologist to look at my sisters x-rays to see she has hip dysplasia, both hips. I suppose they weren't expecting to see it in someone in their 40's and/or they didn't know well enough what normal looked like.

 

@Andy , @Amw66 , @Barry , @Binkie4 , @Invisible Woman , @Inara , @MErmaid , @MeSci , @Mij , @ScottTriGuy , @Trish

I'm responding here (rather than on my original thread -- hence, the "tags" above) because this is where the bulk of the EDS discussion has taken place. I'm just back from an interesting appointment at the genetic clinic.

Once again, I was impressed with the young doctor (late 30's, perhaps) involved in my evaluation. He seemed to respect my medical knowledge, and expressed confidence in the ability of informed patients to self-diagnose using Doctor Google. Although aware of ME, he admitted not knowing much about it. He gave no indication that he perceives ME as other than a genuine physiological illness.

First, he confirmed my internist's suspected diagnosis based on medical history and a physical assessment (eg. hypermobile joints; body components that collapse in ways they shouldn't; and soft, stretchy skin). However, he doesn't call conditions like mine Ehlers-Danlos. He prefers to think of what has traditionally been called Ehlers-Danlos Syndrome Hypermobility (hEDS) as falling somewhere along the "hypermobility spectrum".

Whereas other (true?) types of EDS each have a genetic test that identifies a single gene that is responsible for the connective tissue defect, no single gene has been found for hEDS (terminology used here for simplicity). He said that during the past several years, numerous advanced labs around the world using sophisticated gene sequencing equipment have looked, but have not found a single gene. This does not mean that the cause isn't genetic. Rather, the current belief is that hEDS is caused by a number (perhaps hundreds) of genes. He assured me that researchers are still working on the problem.

This doctor said there is enough evidence involving familial symptom clusters to definitively say something is happening in these patients. He confirmed what patients already know -- that hypermobility often occurs in those with mast cell issues and autonomic problems (POTS, NMH, BP, HR, temperature control, etc.) The link is apparent regardless of where (from which medical issue) the investigation starts.

For me, it was deemed unnecessary to actually do genetic testing since it is unlikely a single-gene cause would be found. The doctor apologized that he could offer nothing beyond what I am already doing to manage a very complex collection of medical issues. Regardless, I considered the appointment worthwhile, and left glad to have had the opportunity to consult with such a kind and compassionate man.

 

@MsUnderstood

I think most of us can tolerate disappointment or lack of progress when treated with kindness and compassion. And I'm glad he treated ME as nothing but a physiological illness.

 

@MsUnderstood, that sounds very interesting and informative, thank you!

 

Shouldn't the title be "EDS and ME-is there a loose connection?"

 

Now there's a bit of dark'ish humour for you!

 

I became ill after a virus in 1990 and was diagnosed with M.E in 2003. However, some of my symptoms were not linked to M.E as life progressed nor some symptoms prior to 1990. It is now obvious I have EDS (prob type 3 now known as HEDS) and I have an appt in April to confirm which type. They are not the same thing. I suspect people with EDS get overlooked as I did with all symptoms being linked to M.E. It is possible to have both. HEDS and Joint Hypermobility Spectrum Disorder are not the same thing either. There is a good book published by Redcliff that explains the differences between HEDS and JHSD. Unless someone with M.E has easy bruising, skin that tears and is stretchy and has multiple ligament/tendon/muscle tears as well as hypermobility, they are unlikely to have EDS.

 

I'm not posting this because I am a disciple or follower of Dr Hyde but because not having any knowledge on the subject, I would like some idea of how much of the info is true or feasible.

He writes:

"
The possible role of genetic susceptability in M.E.-like patients
Ehlers Danlos Syndrome (EDS)
One of the more severe forms of acute onset vascular M.E. is Ehlers
Danlos Syndrome. There is not one Ehlers Danlos Syndromes but at
least 8 varieties. Some cause such severe anatomical and physiological
changes that the child does not survive infancy. Probably each of the
EDS variants are all genetic based illnesses although I have never seen
a genetic study published on each of the subtypes. One of these EDS
subtypes is important in any discussion on the subject of M.E., which I
will now briefly outline.
I have only seen Ehlers Danlos in women. Their illness tends to be
severe and often misdiagnosed. Whether this is a variant of M.E. only
time will tell but if it is not it should be placed in this group for the
moment. The patient usually falls ill sometime after the age of 16-18.

Up until this moment there is no indication of any M.E. or CFS like
abnormality. It is possible they may have previously been diagnosed
with hyper-reflexia or as a child they may have amused their friends
by their double joint manifestations. Probably all EDS have abnormal
connective tissue in their blood vessels. These patients all seem to have
fallen ill immediately after an untyped infectious episode or following
an immunization. I believe these women have a genetic disease and it
is either turned on by a specific virus or alternatively by some aging
trigger.
These hyper-reflexive EDS patients tend to be light sensitive, and
suffer from severe Dysautonomia with one or more of the following:
POTS (orthostatic tachycardia syndrome), IST (inappropriate sinus
tachycardia, and NMH (neurally mediated hypotension).

Marfan Syndrome
Marfan syndrome in its extreme form is quite easy to recognize and is
due to an inherited genetic trait of the connective tissue. The classical
Marfan patient is a tall thin, thin-headed individual with long limbs
hands and fingers and long narrow feet. In the extreme form the
patient develops severe aortic and valvular pathology that today can be
replaced where previously many of these patients died before reaching
20-30 years. These patients are easily recognized by their parents and
their physicians. Wikipedia has an excellent review of the pathological
findings in these extreme patients.
Our problem is not the classical easily diagnosed Marfan individual but
in the wide variety of expression of this genetic illness. These milder
disease forms of patients often are missed and not diagnosed as Marfan
syndrome but present with a history of gradual onset fatigue syndromes
and as with its close cousin, Ehlers Danlos Syndrome they should be
considered in the differential diagnosis
In my patient physical examination check-list, I have a triad of
progressive illnesses. Hyper-extensive syndrome, Ehlers Danlos and
Marfan disease. All three are associated with fatigue syndromes and
dysautanomia. The three are not related but they do form a progressive
cause of the dysautanomia family of pathologies. My check-list of
Marfan features is as follows:"

taken from http://www.hfme.org/Other/DefinitionBooklet_Sept_2011.pdf

if it is a load of twaddle I will gladly delete it.

 

I would not delete it because it is of interest. However, it is twaddle, or pseudoscience. It is completely unsubstantiated by any reliable observations and in places is actually incoherent, or at least plain wrong.

I am unclear where all this guff originates from but it has clearly been around for at last fifteen years, probably more like twenty five. There was none of it in 1979.

What intrigues me is that the literature on EDS and putative associations with POTS and 'MCAS' in general says nothing at all about ME or CFS. There is talk of pain but not specific ME symptoms. Even the cover of the Redcliffe book does not mention fatigue and it mentions just about everything else.

 

Type 111 EDS (hypermobility), is the only one of the 14 types not to have a genetic marker, until now.

The paper also addresses the issue of cardiovascular problems among the hypermobile population.






It'sME(Jaime)
@exceedhergrasp1
·
12 Jun

This is a pretty big deal: a huge team of researchers found a gene associated with hypermobile Ehlers-Danlos Syndrome! Up to now, other kinds of EDS have been associated with genetic mutations, but not #hEDS, the most common kind of EDS. (1/3)


researchsquare.com
Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome
Hypermobile Ehlers-Danlos syndrome (hEDS) is a common heritable connective tissue disorder that lacks a known genetic etio

Abstract
Hypermobile Ehlers-Danlos syndrome (hEDS) is a common heritable connective tissue disorder that lacks a known genetic etiology. To identify genetic contributions to hEDS, whole exome sequencing was performed on families and a cohort of sporadic hEDS patients. A missense variant in Kallikrein-15 (KLK15 p. Gly226Asp),segregated with disease in two families and genetic burden analyses of 197 sporadic hEDS patients revealed enrichment of variants within the Kallikrein gene family. To validate pathogenicity, the variant identified in familial studies was used to generate knock-in mice. Consistent with our clinical cohort, Klk15G224D/+ mice displayed structural and functional connective tissue defects within multiple organ systems. These findings support Kallikrein gene variants in the pathogenesis of hEDS and represent an important step towards earlier diagnosis and better clinical outcomes.

edit: no of types of EDS altered to 14.

edit 2: hypermobile EDS and mitral valve disease (of personal interest) from the paper

"As cardiovascular defects are a relatively common finding within the hEDS population, hearts from Klk15G224D/+(N=6) and Klk15+/+ (N=5) mice were analyzed using echocardiography and histopathology. Although overall cardiac function was normal (Figure S9), valve dysfunction was observed in 83% (5/6) of the mutant mice, with 80% (4/5) having demonstrable prolapse of the mitral leaflets (Figure 2I). None of the control animals had detectable defects in valve function. Myxomatous degeneration of mitral and aortic valves, as assayed by Movat’s Pentachrome stain, was evident in 75% (3/4) of mutant mice compared to 0% (4/4) of controls (Figure 2J). Given previous reports on hEDS patients having an increased risk for changes in aortic dimensions 9, we examined whether this was apparent in the Klk15G224D/+hEDS mouse model. Consistent with these prior reports, Klk15G224D/+had slightly enlarged aortic dimensions, trending toward significance (p=0.0532) (Figure 2K, S10). "

 

The additional acronym and term:

PoTS - postural tachycardia syndrome
Postural tachycardia syndrome​

were added to the SNOMED CT International Release for February 2024 under:

SNOMED CT Concept: SCTID: 371073003 Postural orthostatic tachycardia syndrome (disorder)

following a request for addition of terms submitted on behalf of PoTS UK in December 2023:

https://browser.ihtsdotools.org/?pe...edition=MAIN/2024-06-01&release=&languages=en


Note: I have no affiliations with the group PoTS UK and had no involvement with their request and rationale for additional, codeable terms.