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Eds - Hypermobility Syndrome


goldicedance
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Question:

For those of you with EDS, how exactly were you diagnosed? Did you have any biopsies? Was the diagnosis made on the basis of flexibility? bruising? certain scarring of skin?

Thanks.

Her in the Uk my daughter was diagnosed by a reuhmatoligest (SP?) then as a family we were sent to a genetisist, whom diagnosed us. The Dr's use a system called the Beighton critiria to judge weather you fit into the EDS group then the Dr/ genetisist, will categrise you into sub groups For example Classical EDS, Hypermobile EDS Vascular EDS and so on. Flexibility is a major factor but not the only one used, there are no specific genetic markers at present for any EDS sub groups except Vascular EDS, I think! But their are some new conditions poping up that are also linked to collegen mutations. You might want to look up a Dr. Jamie Bravo his web site has lots of info on it.

Anna

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Hypermobility (EDS Type III) is diagnosed based on the Beighton Scale. (My doctor said has now been renamed the Brighton Criteria, so you may see it referred to as that sometimes too.) Here is the Beighton scale from an article on EDNFs site (http://www.ednf.org/index.php?option=com_c...Itemid=88889049).

"2. Joint hypermobility should be assessed using the Beighton scale [beighton et al., 1983]. Joint hypermobility depends on age, gender, family, and ethnic background. A score of 5/9 or greater defines hypermobility. The total score is obtained by:

a) passive dorsiflexion of the little fingers beyond 90 degrees; one point for each hand.

b ) passive apposition of the thumbs to the flexor aspect of the forearm; one point for each hand.

c) hyperextension of the elbows beyond 10 degrees; one point for each elbow.

d) hyperextension of the knees beyond 10 degrees; one point for each knee.

e) forward flexion of the trunk with knees fully extended so that the palms of the hand rest flat on the floor; one point."

Bruising and scarring can be a symptom of hypermobility, but I don't believe they are ever used in diagnosing. If you're interested, you can find a lot more information on the EDNF site, www.ednf.org.

I was diagnosed based on the above criteria. I can do 9 out of 9, but my doctor just stopped at 6 because it was so obvious that I had it. I never had a biopsy.

Rachel

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Actually, bruising and scarring are considered, as are stretch marks...although how much weight is given to these depends on the doc...and these items may be more indicative of one of the other EDS syndromes, such as classical type (I or II). Skin biopsy may be done for a more definitive dx of non HEDS (formerly type III).

Nina

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hello lois!!

how are you? hope you are warm in florida!

i was originally diagnosed with EDS III by Dr. Grubb. later i went to hopkins and saw a geneticist and he said i DID NOT have EDS III. i no longer consider it a factor in my illness--i have a few very slight symptoms of it, but not enough to account for the severity of my illness.

he spent about 3 1/2 hours with me--the exam included an extensive family history, the beighton scale, history of dislocations/broken bones, scarring, and skin 'texture' (mine is very soft and doughy, a characteristic of EDS). there is no biopsy for EDS III, it's completely a clinical diagnosis.

i felt really good about having a geneticist do the evaluation and later had the same confirmation from my POTS doc.

hope this helps.

emily

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it seems like blair grubb diagnosis EDS a lot in patients he sees w/ POTS. I would feel more comfortable, personally, seeing a geneticist to confirm or refute such a diagnoses. blair grubb is obviously a smart doctor, but i think it is more a definitive and probable of a diagnoses coming from a genetist.

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