Do people with ME/CFS and joint hypermobility represent a disease subgroup? An analysis using registry data, 2024, Kathleen Mudie et al

[ME/CFS Skeptic]

I was told verbally that hypermobility did not show up as increased.

Thanks. I do find this a strange situation. They do not list hypermobility as one of the measurements and they haven't published anything on this.
If they have data on this it's probably the most valuable data on the topic, so why not publish it? Perhaps it was only assessed on a small subsample of newer cases?

You also once referred to data of the Leeds Biobank on about 2,000 cases: do you remember which publication this was?
https://www.s4me.info/threads/is-joint-hypermobility-linked-to-self-reported-non-recovery-from-covid-19-case–control-evidence-2024-eccles-et-al.37749/page-2#post-522486

 

[Jonathan Edwards]

You also once referred to data of the Leeds Biobank on about 2,000 cases: do you remember which publication this was?

I remember discussion about genetic data from the 2000 UK Biobank cases. One or two genes seem to come up but I forget whether there was ever a formal publication. I may well have noted that no obvious EDS genes were picked out. I don't think there were any data on clinical signs.

 

[ME/CFS Skeptic]

I remember discussion about genetic data from the 2000 UK Biobank cases. One or two genes seem to come up but I forget whether there was ever a formal publication. I may well have noted that no obvious EDS genes were picked out. I don't think there were any data on clinical signs.

Thanks, much appreciated.

 

[Binkie4]

I'll add my hypermobility experience which I have posted before but seems relevant here. I do think it is time we had an answer to this. I remember Norton Lab in the US gaining a lot of publicity a couple of years ago re looking for the gene for hypermobility/EDS3.

When I was assessed privately by Dr Bansal in 2015/6 ( he was no longer available on NHS having left the Sutton hospital service), he gave me a diagnosis of hypermobility after discussion and physical exam, on top of ME. Shortly afterwards I was in the Brompton for a heart valve issue and the hypermobile diagnosis was thought very relevant.

A couple of years later, an NHS lymphology Professor referred me to an NHS genetics Professor who diagnosed me with EDS type 3 ( the one with no gene identified) following examination.
With reference to genetics my mother was extremely hypermobile even in her 80s. My son is very hypermobile, also with reference to autonomic issues, always sits cross legged on sofas as did I.

I have had one or two doctors recently pick out the diagnosis of EDS from my notes and express an interest. That has never happened with ME.

I have a vague recollection of Norton lab in the US working to find the EDS3 gene and getting publicity with a member of staff with EDS3. When I just googled Norton Lab the following link came up, no reference to gene.
https://nortonchildrens.com/multidisciplinary-clinics/ehlers-danlos-clinic/

The previous information about the genetic work of the Norton Lab didn't appear to be there. I wonder what happened to it. There may be a link to it on here somewhere but I've been unable to find it. I wonder if looking for the gene didn't work out at Norton but of course it's crucial and would move us forward. I have no more energy to look today.

 

[Jonathan Edwards]

Shortly afterwards I was in the Brompton for a heart valve issue and the hypermobile diagnosis was thought very relevant.

That might be because of a paper published by Grahame, Edwards, Pitcher and Gabell from Guys' which purported to show an association with heart valve prolapse. The analysis of the data was flawed. I won't go into further details but rather regret being involved in the study now.