Eds- Ehlers-Danlos - Anyone Got This?

[Scarlett]

I am fairly sure this is what I have, having been told I am hyper mobile and have other symptoms. I'd like to know if the genetic test to find out is easy to get, or is this another condition that is not really understood or supported by doctors, like Fibromyalgia? (Even the computer doesn't know that word!). Yesterday my ankle gave way yet again for no apparent reason. I'd love to know if there is an actual genetic, provable reason for my stupid joints!

[Sqad]

No, I haven't got it.

I don't think that there is a blood test to diagnose it.

It is a group of diseases, diagnosed mainly on the clinical findings.

A skin biopsy "may" be diagnostic in certain types of EDS.

Slaney will give you a more up to date information.

[Buenchico]

I can't help directly but these two links might be of interest to you:
http://www.nhs.uk/conditions/ehlers-danlos-syndrome/Pages/Introduction.aspx

http://www.ehlers-danlos.org/

[joko]

do you have very stretchy skin? - that is the main symptom

the problem with it is mainly that although the outer skin is not particularly a problem, also the walls of organs etc can also be too stretchy and cause issues

whilst hypermobility is connected ( i have it too, and have slightly strecthy and elastic skin but only in certain places and not weirdly) but it is possible to just have the HM and not eds

[Scarlett]

I don't have very stretchy skin but I do have joints that give way all the time, bendy fingers, can put my hands flat on the floor with straight legs, always did a lot of gym as a kid and could contort myself with ease. My knees were loose and wobbly so I had a ligament reconstruction at 13. My knees would also lock when my leg was bent. Also stuff that I didn't realise was linked- asthma, eczema, ulcerative colitis, hiatus hernia and a lot of food intolerances. I believe type 3 doesn't have stretchy skin but does have hyper mobility.

[Peter Pedant]

Bendiness of joints (double jintedness) is pretty common to be honest.
It is also associated with contractures ( fixed and bent) which I have neva understood. My brother has a patella (knee cap) which goes around the back - and we sort of call him chicken-legs....

and yes of course it has a genetic basis

Everyone knows that collagen is a helix of amino acids of the form X_Y_Gly.
and the Glycine allows a very tight helix. Surprisingly enough the same Amino acid composition is seen in the first complement protein C1q leading us to the surprising conclusion that they are in fact related.
Cross linking of lysine is post translational - and this is the step which is upset n Ehlers Danlos - of which there were eight types but now I see it has gone down to six.

There is this amazing thing called wiki and if you coggle Ehlers-Danlos
it comes up
I mean come on - what do the rest of you spend your evenings doing ?

[Mamyalynne]

Peter, whilst I am sure you mean well - the last couple of sentences do read rather dismissively.

[jno]

[i]Everyone knows that collagen is a helix of amino acids of the form X_Y_Gly.[i]

PP, I have just stopped 27 people in the street and not one of them knew this. You mght consider putting your advice in more simplified form.

[Eve]

I think when you have a number of conditions it can be difficult to work out what is causing what sometimes. I've got hypermobility and there is EDS in the family. I am very flexible, things like you said you can do, though the rheumatoid arthritis makes me less and less flexible as things go on and I have fibromyalgia too and orthopaedic issues with my knees so it's all a bit of a mixture!

If I remember right, you have arthritis associated with your IBD? Do you see a rheumatologist for that? It was rheumatology who diagnosed me with the hypermobility.

They could also maybe help with a referral to physio (if you don't already go) who could help you with strengthening exercises and mobility aids. I'm currently working with them to help strengthen my core and muscles round my joints to help stabilise them.

Some conditions do tend to run together, I have some intolerances and allergies and have been investigated for IBD, have asthma and some eczema. I think that, especially in autoimmune things, that your immune system just makes you more prone to things, though things like asthma, eczema and some intolerances are quite common generally. It's hard to know.

[Peter Pedant]

I just thought you lot would be interested.....

S did ask if there were a genetic test and you know, one has to learn the basic science to answer a question like that.

anyway none of the concepts are difficult are they ?

[anneasquith]

pp, that rude to talk to an aber like that,

[bednobs]

the thing is, i can't see poswhat sible use having a diagnosis would be - there is no treatment (other than what you would get for the symptoms you are experiencing anyway)

[Peter Pedant]

sorry anne I meant to write: EDS has a complex biochemical basis ....
and I dont think there are any genetic tests....

[Scarlett]

Eve- that's interesting cos you are so like me in so many ways! Yes, I am flexible but the outer sides of my legs have tightened up so much that they've pulled my knee caps out of kilter- and caused arthritis. I don't know if the arthritis is associated with my IBD - one rheumatologist said it was Fibromyalgia (it's not) and another said it was hypermobility. I don't have the inflammatory markers that they look for for rheumatoid arthritis, but colitis is a bit different anyway I believe?
I do go to a physio, and the anti-gravity treadmill has been amazing, but the exercises I do find so hard as they make my joints give way more.

[Scarlett]

Bednobs- a diagnosis is important for peace of mind. If every time you go into a doctor's surgery they judge you for being overweight, and tell you that your symptoms will improve if you lose weight, it can keep you sane if you can say "I am like this because I have X and therefore exercise is really difficult". Things like UC, fibromyalgia and arthritis can't be seen, nor can how much pain be described when you eat the wrong food or try and stand on the soles of your feet for more than a minute! To have a name for your condition validifies your symptoms and in my experience, makes doctors (and places like the DSS/ATOS) a whole lot more sympathetic and understanding!