EDS/MARFANS

[angie_chadwick]

Being recently diagnosed with joint hypermobility i see these disabilitys in a lot of peoples problems, i know that hms is in both of these and forgive me for my ignorance but how are you tested on these.
I am fairly uneducated on all of this and i just want to say that ive learnt so much already from everyones problems and advice and thanks guys for what i already know,ive received sod all from anyone else so far.  x angie

[Shazinoz]

FOr all but one of the forms of EDS (and that one is the Vascular form) ther are no clinical tests to diagnose EDS (in VEDS there is a skin biopsy), it is all ode throught examination of a patient and there family usually by a geneticist.
As to marfans I have a vague feeling there is a skin biopsy for this but cannot honest remember.
Hope this helps a little
Sharon

[SL99]

Hi Angie,

As Sharon says there are skin biopsy tests for certain types of EDS, I think Vascular and possibly Kypho both show up with abnormal collagen formation under a spectron microscope test.

I've had a skin biopsy done, but unfortunately the type of EDS they suspect I have ( a rare form of Type VII with marfanoid changes) doesn't show up under the test. So like most of the EDS types is primarily diagnosed on family and medical history plus symptoms.

It's much the same story for Marfans as their is no definite test for that either. Largely it is diagnosed on meeting certain diagnostic criteria, mainly stature, symptoms, heart and eye problems etc.

It's a very long drawn out and complicated process to diagnose any of the hypermobility or connective tissues disorders unfortunately...I know this one far too well as I'm still in the process of having the extent and structure of my own genetic disorder fully confirmed

In the majority of cases though, hypermobility plus some symptoms is down to hypermobility syndrome (HMS) and it rarely turns out to be one of the more serious and unusual conditions such as the ones mentioned.

Hope that helps.

Love and hugs....Jo
xx