Thanks. I'll have to do more research on it.
this might be of use too Ocean,
- thereis not a lot of reliable or up-to - date info onthe web yet as it is all so new
from Mark Martino EDNF...who kindly gave permission to share.
However, most people wind up at a geneticist's office because it's hereditary, or at a rheumatologist's office, because it's connective tissue. Rheumatologists in the US, however, seem to be a generation behind the rest of the world, except for individual excellence, they probably should be avoided in the States.
Diagnosis is done through examination. An EDS exam for diagnosis probably will include testing skin for what it feels like, how much it stretches; the Beighton Score or the newer Brighton Score
http://bit.ly/X8dVFY for testing hypermobility, taking a look at your medical history to figure out what EDS symptoms you may shown in the past and whether you inherited EDS. It ...[should] also include an echocardiogram.... or other tests depending on the symptoms and doctor. .....
[NB IMO you do NOT need to be hypermobile though, to have EDS - there is likely a musculo- contractural type typified by very thight muscle tone - Ally]
There are cases in which multiple collagen genes are found in genetic testing to be mutated, but clinically, since EDS is still diagnosed through clinical signs, the type that has the most matches to your symptoms would be the type diagnosed. This may change, of course. EDS is still a young syndrome as it's less than 100 years old as a named disorder, although cases have been described through history of what would probably be called EDS today; and the current diagnostic system was established in 1997, so it's less than 20 years old.
There are genetic tests for most of the types that can confirm a diagnosis, but can't be used to rule one out in most cases; if you don't test positive genetically, that doesn't mean you don't have EDS. We simply aren't sure of all the gene mutations yet. The exam for EDS is a good, thorough basic physical examination. Classic type has a test that catches more than 50% of cases (and perhaps as much as 90%); Hypermobile type has no test, although there's a possibility at least one of the causes may have been identified. The test for Vascular type is 98+% accurate now; the rarer forms also have well defined tests.
There are some doctors who refuse to diagnose EDS because it's so rare—this is just bad logic; of course it's rare if no one diagnoses it because it's rare. Rarity of a disorder has nothing to do with whether or not it applies to you personally. You will find doctors who don't want to diagnose it because it's not curable. Remind them that even though it has no cure, the symptoms can be treated, and knowing you have a type of EDS gives you and your medical team some idea of where problems might come from and why they're happening; if there ever is a cure, at least you'll all know to use it; and the more of us who are diagnosed, the more likely it is EDS will get the attention we all need and the more likely researchers will work on finding a cure. Even knowing what type you have, your own case of EDS will be your own case; while knowing what might happen is helpful, you'll probably have only a subset of symptoms and not the whole set.
EDS are a collection of genetic collagen defects. Each type of EDS is defined as a distinct problem in making or using one of the types of collagen. Collagen is found throughout the body. Ehlers-Danlos syndromes come down to a structural problem. An analogy. If you build a house with bad materials, say weak wood or cheap nails, you know you'll have problems. Some problems are more likely to show up than others, but because the bad materials were used everywhere and aren't necessarily visible, you can be surprised by a problem. It's the same thing with EDS and collagen. The collagen you're built with is not structured the way it should be. Collagen is what the body uses to provide strength and elasticity to tissue; normal collagen is a strong protein that allows tissue to be stretched but not beyond its limit, and then safely returns it to normal. WIth a badly built or processed collagen, some of the tissue in your body can be pulled beyond normal limits, causing damage. Collagen is the most abundant protein in the body and can be found almost anywhere, in skin, muscles, tendons and ligaments, blood vessels, organs, gums, eyes, and so on.
So the problems resulting from being built out of a protein that doesn't behave the way it should can be widespread, in a wide range of severities, and maybe even show up in places you wouldn't think are related until it occurs to you that collagen is used there, too.
Each doctor you see is going to look at things differently. Endocrinologists see hormones as the problem, or CFS. Rheumatologists in the US think fibromyalgia's the problem. Surgeons see weaknesses that need surgery. And if none of them are remembering that EDS is the root cause, and maybe their solution won't work in that environment of your body, they may be inappropriately treating you.