"Ehlers-Danlos syndromes: new labels confuse everyone", 2019, Williams, letter to BMJ, includes comments about CFS

https://www.bmj.com/content/367/bmj.l6095.full

Extract:

 

?

The paper cited (by Peter White's group) reads: "Annual incidence rates for CFS/ ME diagnoses decreased from 17.5 (16.1, 18.9) in 2001 to 12.6 (11.5, 13.8) in 2013 (annual percent change -2.8% (-3.6%, -2.0%)."

So where does the 75% figure comes from?

 

Any COIs declared? He looks like the sort who might have attracted money from insurance companies: https://uk.linkedin.com/in/tony-williams-4b267412

 

It seems that the only thing that has changed since 1991 is that "dysfunctional cognitions and maladaptive behaviour" have become "inappropriate beliefs and maladaptive behaviours"'

 

The BMJ tend to post most comments submitted. To increase chances, include a reference at the end (which could simply be a website).

 

I suspect he is talking about percentage decrease rather than percentage point decrease, which makes it look more significant.

The funny thing is that it's still wrong. 12.6 divided by 17.5 is 0.72, so according to White, the number of diagnoses are 72% of what they used to be in 2001. I suspect the BMJ author pulled the 75% number out of that. The correct number of course is 1-0.72=0.28, so correctly quoted, the White paper found a decrease of 28%, not 75%.

 

Here's the Rapid Response the letter was taken from: https://www.bmj.com/content/366/bmj.l4966/rr-0

 

I think his use of citations works like this: He uses his clinical judgment to pull a figure out the air for what he thinks the truth is - say a 75% reduction in CFS diagnoses referred to him - and then finds a paper that says something vaguely related. (It may be that GPs have stopped referring CFS cases to him because they discovered it was no help.)

He is generally sloppy in his thinking but I think the central point is fair. The 2017 revised criteria for hEDS are seen as not fit for purpose by a number of colleagues I have contacted - and in part for the reasons he gives.

I am trying to work out what the right way to define hEDS would be. My thoughts at present would be:
1. The diagnosis should be based on signs and not symptoms. In Down syndrome or Marfan syndrome the diagnosis is designed to identify a gene mutation that affects body structure. It is based on signs and genes. Whether or not a change in structure has given symptoms should not influence whether or not the diagnosis is appropriate. The same is true of EDS.
2. hEDS should be reserved for people with genuinely abnormal joint mobility. The features in the Beighton score (hands touching flat on floor, elbows bending back 10 degrees, etc.) are all normal because a good number of normal people have them. To diagnose a disorder there needs to be frank abnormality of movement - something that only one person in a hundred or less can do.
3. There should either be a known gene mutation or incontrovertible evidence of a monogenic pedigree - i.e. a parent and half of sibs having the same very unusual mobility abnormality.

 

Straight from a horse's ass.

That is one hell of a cherry-picked factum to support a belief.

How do people like that even make it through high school? Just coasting on good memory?

 

These patients need objective assessment and management,

I look forward to it.

 

Yeah I did a double-take on this one, derides diseases that have objective pieces of evidence but are an unsolved puzzle, pushes for something that doesn't have a single piece of objective evidence and mostly acts as a proxy for yet another thing that lacks any evidence whatsoever.

Hard to take seriously that it's the lack of objective evidence that they, uh, object to when they don't care about there being any for the alternative ideology they promote.

 

How would you define that? What would that look like to you? Would, say, frequent dislocations be part of that?

 

The Beighton scoring system includes a range of signs that probably do not have much in common. For instance elbow hyperextension may have more to do with bone contour than ligament. Knee hyperextension is mostly limited by muscle origin. Putting palms on the floor probably has to do with muscle, disc and pelvic bony shape and childhood postural habits. And none of the signs are outside normal range.

Most joints do not actually dislocate without permanent structural damage. More or less the only joint to show recurrent dislocation without being wrecked is the shoulder and the problem there is that even for the shoulder in many cases recurrence may be due to ligament changes during the first episode so it may not tell us much.

I think a lot of what people think is dislocation or subluxation is ligament tracking across bone -giving clunking in hips, shoulders, wrists, etc.. It isn't particularly a sign of laxity or hypermobility.

Despite being a rheumatologist I can only remember coming across one case of EDS and it was obvious that the joint laxity was different from just hypermobility. But it is forty years ago now. I don't know what the common pattern is for monogenic hyper mobile type EDS (if there is such a thing) but I doubt it has much to do with Beighton. I would look for things like varus/valgus laxity in knee or elbow rather than hyperextension. I would maybe look for true wrist subluxation - things that look strange and are outside normal range.

 

Interesting. I've always thought the Beighton Scale seemed like a remarkably low bar for deciding on a disease state or structural problem. Moreover, it doesn't really tell us much about functional capacity. Putting my hands flat on the floor or touching my thumb to my wrist isn't disabling. Not being able to lie in bed without pain and a sense my knees are bending backwards or throwing a ball without injuring my shoulders or cutting a steak without frankly dislocating my finger -- these are disabling. And what's problematic about the current hEDS categorization is that it is quite likely leading us astray in answering why people are injuring and/or in pain. I do wonder if this is more akin to repetitive strain injuries than anything to do with hypermobility.

So does that mean osteoarthritis or something else?

 

For most joints, like knee or ankle or elbow, there can only be a dislocation if the major supporting ligaments are ruptured. For the knee that means both cruciate ligaments and probably at east ne collateral. Without skilful surgical repair the joint is then almost useless - unable to weight bear. The shoulder is an exception because it is surrounded by muscle rather than ligament - so that it can move in all directions. But even a shoulder has some retaining ligament that tears during dislocation, making repeat disclocation slightly more likely.

So I am not talking about osteoarthritis - although following repair a damaged knee is very likely to develop osteoarthritis in subsequent years (osteoarthritis just meaning loss of the cartilage bearing surface here).

 

I am not quite sure what you mean by this. Not having talked to anyone with actual EDS for years I am not sure but I don't think EDS usually causes pain, except during an acute injury. The problem I see is that certain private practitioners are telling people their pain and fatigue is due to EDS or hypermobility when almost certainly it is not.

 

Precisely. Which means if those of us who have chronic pain and just happen to also be hypermobile are being misdiagnosed with a collagen disorder, then we're no closer to knowing what is causing our pain. On many of the hEDS Facebook groups or on Twitter, it's become a sort of Grand Unified Theory of everything that's wrong with them. One doctor is quoted as saying something like "if you can't connect the issues, think connective tissues!" But...why? Initially it confused the hell out of me because while I could see how EDS might explain why I injured so easily, I couldn't understand why it would cause symptoms that sound like ME/CFS. Why is an ME/CFS diagnosis not enough for that? And why would joint instability cause widespread pain (central sensitization explanations aside)?

While that seems quite likely with most of the times I feel a sense of instability in a joint, I've had several occasions--mostly with my fingers-- where the joint looks visibly and sickeningly askew or crooked before I either gently pushed the joint back into place (the PIP joint or the one above it on my index or middle fingers) or it immediately snaps back into place (my shoulder or my knee). The PIP joint was confirmed dislocated on X-ray (that's why I know the name of that joint! ). The patella did this in front of a group of people, all of whom gasped when it happened -- as did I as I was not expecting it to do this. It doesn't hurt when my fingers do this, though it feels profoundly icky like a sort of fingernails on a chalkboard feeling. There was intense pain during the few seconds my patella was in that position but once it snapped back into place, it was fine with maybe some residual soreness. The same was true of my shoulder, though the soreness lingered for days. When I started having chronic pain with my knee, the orthopedist said that the patella was slipping slightly out of the patellar-femoral groove.

I know other people who have been diagnosed with hEDS describe similar phenomena. While having a tidy explanation for why this happens might be nice, I suppose, being bedridden with ME/CFS is far and away more disabling. FWIW, I don't injure anywhere near as much since I became mostly bedridden. Except my fingers. They seem to get more unstable as the years go by.