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cardiactec

Eds Or Marfan?

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I'm not really clued in as to what the specific testing is to determine between marfan or EDS.....it sounds like a good majority of testing for EDS is based off observation (doc looking at patient to see if patient has certain features or characteristics, etc). i know there are biopsies that are done to prove/disprove certain types of EDS, but what actually differentiates marfan from EDS? i know marfan is a type of connective tissue problem and usually people who have it have dilated aortic roots and such, but isnt the profile for marfan very similar if not almost the same for EDS AND marfan?

I havent been tested for either, though i have had echos and i dont have any aortic dilatation, just MVP and TVP, and PFO.......today while i work, i was sitting with my arms straightened out on the table i was sitting on....one of the cardios looked at my arms and said "what are you doing with your arms". i had no clue what he was talking about and asked him what he meant. he said that they looked "Rotated" at the elbows....i didnt notice because i didnt feel i was "bending them out of shape" or anything....then he asked if i could rotate my elbows out or in more with my hand still straight on the table....so i tried and he just about flipped out, was trying to do it himself....i didnt think it was THAT abnormal.....then he tried to show me something with his thumb, trying to ask if i could lay my thumb on my wrist. i did it no problem and he said "you have marfans"......i told him that i didnt. he asked if i had had an echo and i said that i had but didnt have any aortic root problems.......then he said "oh well then you definitely have EDS, do you know what that is". i told him i had heard about it and then he rememberd my pots and said there was a correlation btwn pots or dysaut and connective tissue disease and that someone should run some tests on me........

the question is, is the only determiner btwn marfan and EDS, aortic root dilatation? i know with EDS you can have vessel and/or small/large organ rupture if vessels are involved..........but are there any specific blood tests, genetic tests that put EDS in one box and marfan in another??? or do they just wait til your aorta is dilated to say you have marfan. lol. the reason i ask is my mom, though not hypermobile in any way, has a dilated aorta and they are just blaming it on high BP (but her BP isnt that high, like 150 systolic). i am wondering if there is marfan going on?? i have had my eyes checked, cuz i know with marfan, you can have eye problems, my eyes are fine. no aortic dilatation.........

sorry this is so long! i was just shocked the cardio had this convo with me today!!!

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My long and short of it would be to see a geneticist to be sure.

Many folks on this board have EDS--Hypermobility type. It has been connected to POTS.

I only know one other member who has Marfan's.

You can be hypermobile and NOT have EDS.

For hypermobility type of EDS there are not biopsies--it is a clinical diagnosis.

Dr. Grubb often diagnosis his patients on site with EDS and POTS.

I think he is wonderful, but with me, he mis-disagnosed me and I worry that he overdiagnoses the disorder. He is a cardiologist and did not do a thorough Beighton exam (score determines EDS).

I went to see a geneticist as well as another ANS specialist who has written papers on the link b/w CFS and joint hypermobility. While I have a couple of characteristics of EDS, I don't have enough to say it is the cause of my POTS (as Dr. Grubb said) or to say that I have EDS.

I don't know much about Marfan's syndrome....but a search on webmd or such might help you out. Or, just type it in on google.

Emily

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Marfan has some classic body and facial features, please see the national org. website for info.

http://www.marfan.org/nmf/GetContentReques...?menu_item_id=3

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Here's a couple of links to help you----and you can also do a search under marfans or EDS, as I know there have been many postings on this.

I have EDS type III---but most geneticists call it "joint hyper mobility" EDS now----I also have vascular and skin involvement.

http://www.ednf.org/

http://www.marfan.org/nmf/index.jsp

I hope this helps a bit--- :);)

Maxine :0)

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abraham lincoln had marfan's. i think it is related oversized, tall persons, large hands, etc. nia.nih.gov could give you more info. a strong expert in the field is hal dietz @ johns hopkins. the 2 are similar, but eds-hypermobility can only be diagnosed clinically through physical attributes & family pedigree. eds has more to do w/the collagen output of your body.

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Emily, I definitely could see how EDS could be "overly diagnosed", especially if someone is not a genetist who is making the supposed diagnoses of EDS and is just going on symptoms or characteristic profile.....as you said, you can be hypermobile and not have EDS..... i know A BUNCH of people who are hypermobile and physically they are fine, just loose as a goose. so i can definitely see how many people could just be given the label of EDS and dont truly have it....it's kinda like the MVP deal, many people for a long time were diagnosed with MVP and once they tightened up the criteria for it, over half the people diagnosed with it truly did not have it.

thanks for the websites. i read a little on the site you provided nina....sounds like there is quite an overlap in different syndromes with marfan......but overall, fibrillin/gene testing for specific mutations can sort out the differences btwn these syndromes, as well as family HX and major/minor affected organ/body system abnormalities...and also, as you said, body habitus/physical features...

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I think there is a lot that isn't understood about when hypermobility is a problem and when it isn't. As you say, there are some people out there who are hyperflexible who appear to be problem-free. I have two colleagues who are much more flexible than I am, but are marathon runner. My guess is that they would score relatively high on the Beighton scale--dut they don't dislocate and are pain-free in their mid to late 30s.

It could also be that some people who are hyperflexible may run into problems down the road-whether it is called eds or not. Joint-wise, physical therapists know that loose joints are more injury-prone than tight joints.

I never considered myself particularly flexible, though I guess I may be. I"m just very injury-prone and unstable. Constant subluxing. On the Beighton scale, depending who is looking, my elbows hyperextend. Some think my knees do, some don't--but they pop and slide on me. My hands are not that hyper mobile, except from the joints at the end of my fingers-- though I have pain and popping there.

On the other hand, there are joints not on the Beighton scale where I am loose--hips, feet, jaw, shoulders...

And my skin only seems loose in certain places--inside of forearm, calves, feet. and I appear to scar pretty normally.

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