Why is it so often said that almost nothing is known about ME/CFS?

[JaimeS]

x gazillion.

And, I should add, treat us like the partners we are.

 

[obeat]

...or several other things. Including emotional trauma and physical trauma -- anything that would induce a flood of cortisol -- as in severe, severe stressor -- can knock out NKCs. Or so says some pretty preliminary research that looks credible at first glance.



That's not a bad idea. We're basically saying a very rudimentary meta-analysis. Find out just how deep a hole we're in.

[Edit: I wonder if anyone who worked on the IOM report already has such a list? They did review 9K studies, after all.]

Actually think I've looked at this the wrong way round. Recent papers e.g. Lipkin/ Montoya et al on microbiological/ metabolomics had 50 subjects by combining results. Mortens study in Oxford will have 100 subjects and I think Neil Harrison is aiming for 200? Fluge and Nella have data on more than 100 ,so I guess efforts are now being made to have large numbers.

 

[Kitty]

There’s a very large group, the hypermobile group, most of whom still have no gene identified (although it has an autosomal dominant form of inheritance, so the genes are following Mendelian rules so it seems not that hard—yet hasn’t been found, but I don’t think there’s many researchers, much funding, or many studies here, either), and is thought to be likely to end up in several categories eventually.

Drifting off-topic, but I wonder whether this type of EDS can sometimes occur as a developmental disorder that requires at least two factors: genetic predisposition (which could include a variety of genetic profiles), plus a precipitating event? This would complicate the picture considerably for researchers.

It occurred to me because it shows up in my family in strong association with other conditions that may have this characteristic, i.e., high-functioning autism, ME, and MCAS. The affected relatives all had at least two of the four conditions.

The ASD develops in early childhood; the EDS is apparent in childhood but doesn't cause any problems until puberty; and the ME develops at some point between puberty and middle age. The MCAS is the least clear-cut, as it's relatively newly recognised, and I was only close enough to two other relatives to be sure that they had clear symptoms. It occurred in those of us who also had ME (though in my case it long preceded the ME).

I'm the only person with this four-way syndrome who's still living, though, so the kindred isn't much use to researchers. We've hopefully also bred it out – only two members of my generation had children, and they were unaffected themselves. Fortunately, their children and grandchildren have shown no signs of the disorders.

 

[JaimeS]

2-day CPET (with 48 hours inbetween) seems to be the best biomarker for now

Actually the two I know of are both 24 hours later -- Snell et al 2013; and Keller et al 2014. I'm writing up stuff and had reason to double-check.

I wonder whether this type of EDS can sometimes occur as a developmental disorder that requires at least two factors: genetic predisposition (which could include a variety of genetic profiles), plus a precipitating event?

If you've been following the recent (ENORMOUS) convos on Twitter with me, Jeff, Jen, and various others, that's the zeitgeist right now.

Might be why there's no 'single gene' linked to hypermobile EDS: it could be a susceptibility to infection rather than a susceptibility to collagen defect. Many pathogens eat collagen for lunch. It's part of their strategy for getting into the joints or the CNS, both of which are prime real estate for the types of infectious agents that cause autoimmune disease.

 

[anniekim]

Interesting to see Michael VanElzakker tweet this today.