By Sunshinygirl on Monday, December 22, 2003 - 04:18 pm:

I'm looking to find if there are any (and in what numbers) people with HMS or EDS which have also been proved to be HLA-B27 positive.

I myself have all the criteria needed for HMS, and probably EDS (according to Belgium criteria I've got EDS, but the criteria in Holland, where I live, are different and the waitinglists for clinical geneticist are longgggggggggggggg), and have been researching a possible heraditary-possibility.

For as far as we as a family can see there is no one before me in the family (went back to my parents grandparents and every familymember who was born after them) who has HMS or EDS. However, I do and for as far as i can see my brother definateky does as well. Spontaneous mutation is possible of course, but in 2 kids out of the 2 kids my parents had? That's a bit of a luck, if you ask me!

In my family-line there are a lot of reumatic disease's, most of which are in the direct line.

Reading up about HMS and EDS I stumbled upon HLA-B27 about 2 times or so in personal stories, which made me think about it.

HLA-B27 is a important bit of information with Bechterew's disease (Spondilitus Ankylopoëtica), a reumatic disease (which my father has got among others) about 95% of patients with Bechterew's are HLA-B27 positive.

I also stumbled upon a bit of info while reading up about Bechterew's, in which it was mentioned to be believed just maybe Bechterew's wasn't only a reumatic disease mainly focussing on the spine, pelvic and neck, but it was believed to maybe be a connective tissue-reumatic disease. For how far this theory is actually reliable info, or just some fantasy-story, I don't know.

But these things combined made me wonder; might there be a link after al connecting the disease's in the family and explaining the links? (for instance my father has SA and FM and his mother had RA and FM. The doc's couldn't prove connection or heraditary but believed there is, as there are more of these links in the family).

It made me wonder if there were more people with HLA-B27 positive blooedtest results???

And if anyone knows more info on this; I'd love to read it!

By Happy on Tuesday, December 23, 2003 - 03:29 am:

Hey, this is interesting. Not that I can help you, I'm afraid. I'm from Holland too. Didn't know the criteria in Belgium were different? Yes, I know they are working on it in Gent, and most researchers there believe HMS and EDS are part of one family of disorders of connective tissue. While dutch Doctors in general do not and (even worse) in general don't take HMS seriously.

HLA-B27 positive is something I've read before, indeed in personal stories. But not very often. I find the theory about SA most interesting. It made me wonder before, since I know some people who have it, and they mostly have problems in other regions, too. And I read from a lot of people with HMS that there are other rheumatic diseases in their family. FM, RA, SA..

Spontaneous mutation in two kids? Seems not right indeed! And the genetists say it is a dominant gene, (or: genes, it seems to me there must be more than one gene in all this) so it could not be a ressesive gene carried along until now. Could it be that there are some genes predisposing to this, with one more mutation causing HMS or EDS? No one in my family is what you would call stiff, but actually hypermobile as I am? I see problems related to HMS in my family all over (flat feet, thin skin, varicose veins, hernias) but I'm the only one who really has HMS.

By Sunshinygirl on Tuesday, December 23, 2003 - 05:29 am:

What I've been told from my specialist in Belgium (been operated there 3 times now, waitinglist here are...............), is that the believe HMS to be actually part of EDS type 3, where they formarly though it to be a different disease all together. Whereas here in Holland the believe it's a different disease, and they jused to think it was EDS type 3. Boy, talk about paradox! It's true, here in Holland most docs believe HMS to be "nothing". My GP for instance believes its a "fashion-disease-between-the-ears". But on the other hand, I am blessed with a rheumatologist who takes me deadserious and who fight like hell for me.

But I must say, the care I got in Belgium was a small bit of heaven! Taking everything serious, making special arrangements in operating theaters and on the ward, reading up on info by my specialist before operating on my etcetc.

SA does indead affect more than just the spine. The spinal influences are the most notable and biggest, so it's described like a spinal-pelvic-disease most of the times. But in practice it affects every joint in the body, it can affect eyes enormously etcetc. And it has a high risk of secundary FM.

The link with so many people with rheumatic diseases in there family and HMS or EDS..... it can all be stupid "luck", but some little voice in my head is telling me that there is more then we know at this moment.

If I look at my direct family......... brother whome I believe to have HMS or maybe even EDS, Father who has SA and FM, his mother who had RA, FM and some other rheumatic disease which I can't remember, mother who is tested for the rheumatic diseases at the moment, in my mothers family a chain of SA-people, my father's brother who has RA and FM, my father's aunt's who have got RA and FM....nieces etc.... to many people if you ask me ;-)

So I'm gonna try and find out. I hope the KG is willing to help me with this as well, but if not I know my rheumatologist will. She's a great doc, and very interrested in these things, so It'll work that way at least.

By Happy on Wednesday, December 24, 2003 - 07:46 am:

Tell me about the waitinglists here! You know what really is a "fashion-disease-between-the-ears?" that reaction from doctors! Really, sometimes I wonder how and why these guys became doctors. It sounds your rheumatologist is a blessing indeed. Wish I had one. (A good rheumatologist, the blessing I've got already;-))

Interesting to read these different opinions, although I don't think this will help US. That voice in your head.. I have one too! And yes, I think a KG should be the kind of doctor to answer your questions. Hope you get some answers!

By Ros on Tuesday, February 03, 2004 - 06:48 am:

I'm HLA B27 positive, and (having been checked out by a rheumatologist) I don't have true ankylosing spondylitis. Two of my mother's cousins do/did though. This is interesting, because I thought I'd inherited my HMS from my father's side, but the HLA B27 came from my mother's side...

I do also have fibromyalgia. In fact, I only have that as a diagnosis - I've not managed to persuade anyone that it's worthwhile trying to get a diagnosis of HMS/EDS even though it's obvious to me that I have it - 3 referrals to a rheumatologist/physio in 18 months!

Ros