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Confused About Eds 3?


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I'm in the process of being tested for EDS. In the meantime I'm reading about it and think it's possible I have type 3, but don't really know??

Online it says there's no specific gene for type 3, so how do they know then if you have it? Is it bc I'm so hypermobile & have POTS?

Is it true all the other types have a specific gene?

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Type three is diagnosed clinically from family history, your medical history and your signs (hypermobility, etc.) There is one gene associated with type 3: the tenascin-x gene, but its mutation only accounts for 10% of cases, so it is very rarely tested for. In the classical type there are two genes, but they only account for 50% of cases. I think in type 4, vascular the gene they found accounts for 98% of cases.

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Ok, it was recommended I get genetic testing and will do it but the one my dr uses is backed up a few months. We'll have to wait and see

There is nothing real glaring in my family history that I know about. Like my brother has a double jointed thumb and my grandma & great grandma could bend over and put their hands on the floor but that's about it.

I'm scared of having EDS 4 but like I said I don't know of any family history of that or anything

Maybe upcoming autonomic tests will help solve somethings too

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Dysautonomia (POTS) may occur in EDS but not all EDSers have POTS. I have EDS III but suspect Classic or mix which you can have. I am in 5th decade of life and am a bleeder/hemorrhage (nobody in my family like this but I am older of 7 kids) coming from DF with no sibs and mother w/ 3 brothers (males less symptomatic). My son had injury (mirrors me health-wise except for hemorrhaging and IBS not quite as pronounced) that was slow to heal. He's in his 3rd decade of life and in exploring this he was found w/ congential dilated aorta (on one end of the spectrum of the connective tissue problems). My POTS/later orthostatic hypotension with ANS failing, did not become pronounced until my 5th decade.

Many genetecists here (there is one well-versed in EDS about 2 hours away) have long wait lists. I felt like since I've had this for so long (diagnosed in 2005 and again in 2011), I didn't feel 'pressed'. I think I called to make appt in July and get in on Dec. 8th (so I feel lucky). They told me to keep calling that if they have any cancellations they would put me in, but when I checked in Sept., the genetecist was already booked into May. Having purple feet, a g-father who died of ruptured AAA, and being a bleeder I asked Dr G (cardiac specialist in dysautonomia and well versed in EDS) told me that I do not have vascular or I would already be dead. EDS III also affects the connective tissue of the veins and vessels, but is not considered EDS IV (vascular type).

EDS is more than just how stretchy the skin is and how hypermobile your joints are, there are other complexes of systemic processes that are affected and vary person to person.

Best wishes.

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