Referral to Inherited Metabolic Disorders Clinic

Before Christmas, I was surprised to receive a letter from our healthcare service advising that I have been referred to the above genetic clinic. I hadn't seen the referring internal medicine specialist for 1 1/2 years -- the length of the wait list period, I now know.

I questioned the patient care coordinator, and was advised they will be evaluating me for suspected Ehlers-Danlos Syndrome. Prior to the appointment, I was required to complete a detailed questionnaire. My dilemma -- should I, or shouldn't I, open the ME/CFS can of worms?
I did, especially based on my awareness of the ME/POTS/MCAD/EDS cluster. I already have three of the four diagnosis.

My approach with medical appointments has always been to educate physicians, most of whom, I've learned, are still not receiving information about ME in their training. With that in mind, I'd appreciate receiving links to relevant research reports from the forum "science experts" to help me prepare for the consultation. I'm particularly interested in those that link at least ME and EDS, and possibly POTS and MCAD as well.

Thanks.

Edited to make it clear (with bolding) that I did divulge all medical conditions I have been diagnosed with, including ME.

 

I would say that the origins of your symptoms are unknown and thus you were Dx with ME, or you suspect you have ME. I would not try and hide it, unless you feel that you would be abused in some way for disclosing it.

It’s great to hear you will be tested, so you can rule things out, or better yet receive a more accurate Dx.

I don’t know any good published research that could convince the clinic there is a relationship between ME and EDS.

 

This is a fraught area where there is pretty little in the way of fact available.

EDS was originally coined as a name for a cluster of genetic connective tissue problems that were distinct from Marfan's but included various forms of tissue laxity - joints, skin, vasculature. It got divided into several subsets, some of which are know to be due to specific genes. One of the subsets (III) was defined as involving chiefly joint hypermobility. Independently the term 'hypermobility syndrome' was coined for joint hyper mobility in the absence of any other serious problems.

In the 1970s things got confused with suggestions that hypermobility syndrome, which was increasingly to become known as EDSIII, was associated with cardiac abnormalities (partly my fault) but the evidence did not stand the test of time. It then became widely suggested that hypermobility was associated with pain. However, this became self-fulfilling because the only people who were referred to hypermobility clinics were people with pain, because the others had no need to see a doctor.

More recently still it was suggested that hypermobility, or 'EDSIII' was associated with fatigue. This surprised me because I ran a hypermobility clinic int he 1970s and I do not remember anyone complaining of fatigue or any other feature of ME.

The real problem is that a moderate degree of hypermobility is extremely common in healthy people. Moreover, the assessment of joint mobility is very subjective. Some physicians find it all the time and others hardly ever see it. It depends on how hard you bend the joints and whether you rely on reports of childhood contortions.

I think the value of an inherited connective tissue disorder clinic (this is not in any standard sense a metabolic problem) is that it can diagnose the other forms of EDS, which can have life-threatening features, but are very rare. MY personal feeling is that EDSIII, except in very uncommon cases of extreme laxity, is not a very helpful category. Moreover, it is unclear that is defines any specific genetic defect. Someone with congenital tendency to shoulder dislocation is just someone with congenital tendency to shoulder dislocation in most cases.

Perhaps most importantly, I do not think it has any great relevance to ME and I am very uncertain that there is any meaningful link. After all, EDS is something people are born with and ME is not. And if there was a real correlation it is high time someone had done a half decent epidemiological study to show it.

 

I am not quite sure about posting this, firstly because I don't have the understanding or language to explain it, but I can post a link

https://www.rccxandillness.com/

I came across it when diagnosed with hypermobility ( EhlersDanloss), possible Dercums ( not sure). I already have ME ( 10 years) and a lipolymphadema diagnosis. I have also had mitral valve problems diagnosed for which I will probably have surgery soon.

Very basically Dr Sharon Meglathery's theory relates to an overlapping series of illnesses which are subsumed under the heading RCCX theory. Am posting this here @MsUnderstood because of your reference to a metabolic disorders clinic.

As well as being a physician I read that she also trained as a psychiatrist. I do not know what to make of this. I don't have the science to understand it. Dr Karen Herbst who works with her and deals with the adipose disorders stuff is fairly mainstream I think.

I wish you well in your researches.

 

Thanks, @Binkie4 , for reminding me of Doctor Meglathery's work. Like you, I don't feel qualified to assess how much merit there is in her theory, but it is intriguing.

I also have mitral valve problems, although in my case not serious enough to require surgery.

If I learn anything useful at my appointment, I will pass it on. For now, I don't even know if I'm being seen for research purposes, or if there is something my doctor has in mind that might help me.

Best wishes for your upcoming surgery.

 

I would be very interested in how it went.