Brand New developments in finding the genetic defect which causes EDS hypermobility type

[Jay66]

For those of us who hope for a cure within our lifetimes...

mentalfloss.com/article/875...

mdedge.com/rheumatologynews...

nih.gov/news-events/news-re...

niaid.nih.gov/research/here...

Basically, if you have 2 copies of a certain allele for tryptase, there is a strong correlation with also having EDSH and Mast Cell Syndrome.

The truly excellent news is that the body doesn't need tryptase - lots of people don't produce it, with no side effects, so just blocking it would be a possible fix!

I don't have Mast Cell problems with my EDHS, as far as I know, but then the symptoms of EDSH overlap hugely with MCAS, especially gut problems and heart beat issues. I do have a fine set of skin flushing and psoriasis anyway, so who knows?

[cyberbarn]

Don't get your hopes up too much. The reporting of the paper in some instances was more hopeful than accurate. They use EDS-HT as an example of genetic syndromes that over lap and are difficult to diagnose. They said that although mast cells are implicated in some functional disorders, their patients didn't have mast cell disease despite the high levels of tryptase, so they wanted to look into this more deeply.

Their patients mainly had systemic venom reaction, flushing, IBS, skeletal abnormality, retained primary dentition, pain, and sleep disruption and some autonomic dysfunctions. Some were hypermobile, but not a significant number were.

They said it is unclear how elevated levels of tryptase might contribute to the phenotype (symptoms) and can't rule out that there was a second functional genetic variant contributing to that, as the area of where these alleles are found is very complex.

No where in the paper do they say that there is a strong correlation between anything. The only correlation they found was between the phenotype of the people they were studying and gene dose. Sorry.

[Jay66 in reply to cyberbarn]

Ah that is a shame. The original research publication is behind a paywall, and someone like me with no medical understanding would not follow it anyway.

[cyberbarn in reply to Jay66]

This was also recently discussed on an American EDS forum. It was a pretty dense paper, but thank you for bringing it up. I try to read a paper a day, so it was useful to have this as my paper to read and comment on today!