Eds - Hypermobility Syndrome

[goldicedance]

I understand that many here have EDS Hypermobility Syndrome and some say that also have vascular involvement.

Could you please tell us how specifically it was diagnosed? I thought that genetic testing was necessary to confirm the diagnosis. Now, I have been reading about diagnosis using the Beighton scale.

Help!

Lois

[mkoven]

There are roughly ten types of eds. One is officially called vascular eds, but it is somewhat rarer thsn hypermobile. Thst said, many with hypermobilr hsve vascular issues. ednf.org is an excellent site with much info.

[goldicedance]

Thanks for the reference. My question still remains: For those of you with EDS, how was it diagnosed? Did you go through gene testing?

[Sunfish]

i know this is only a partial answer but while i am hypermobile i don't have EDS & it's not my area of expertise. but since many aren't on the board for holiday festivities i figured i'd still chime in with the little bit i do know.

only SOME types of EDS can be diagnosed through genetic testing. it may even only be one of the types.

other types are diagnosed primarily clinically (using the scale you mentioned & a doctor's expertise).

i'm sure the ednf.org site has more extensive info & it's been discussed in past posts though i'm not sure what the most efficient way to search would be.

hopefully others with more knowledge on this will chime in...

melissa

[Maxine]

My EDS was diagnosed with the Beighton scale, physical examination, and genetic counseling. I saw a geneticist, two genetic counselors and a cardiologist---all whom specialize in EDS. The Cincinnati Childrens Hospital--------------EDS clinic. Dr. Wenstrup is a geneticist----and he specializes in all types of EDS.

Dr. Wenstrup is the past president of the medical advisory board for EDNF, the national association of EDS pts; his validation carries great weight for my case. In other words------there is no doubt now that I have true EDS type III----or now known as hyper mobile EDS----I also have vascular and skin involvement.

Dr. Wenstrup said my spine is affected a great deal---and it's unusually supple or flexable. Unfortunately I didn't think about this one day when I snaked myself around my drivers seat to grap my grandaughter's sippy cup---------now more spine issues on top of the already existing problems----------

I think there is only one type of EDS that is diagnosed with a muscle biopsy.

The cardiologist also thinks the EDS plays a role in my POTS----definate blood pooling in legs, arms, abdomin---ect........

http://www.ednf.org/

http://www.ednf.org/abouteds/index.php?opt...9&Itemid=32

Maxine :0)

[sfrnklin]

Hi,

I have it also but my MD, Dr. Grubb, just did the Beighton Scale and an examination. I also have spine involvement. He said he could tell when he walked in the door and met me the first time for my initial visit. He said I "had the look". No genetic testing was done. He said it was not necessary. I was born this way, period.

Good luck in your research.

Susan

[cardiactec]

susan, what was dr.grubb referring to when he said you had "the look" ? what is your body habitus like? just curious.

[Maxine]

Dr. Grubb said I did not have the look-----then did a partial Beighton Scale on me, then said I don't have EDS. I did not agree with him. He didn't really do much of an exam---probably based on my looks. Size 12 at 5ft. 4in. tall--------------------supposedly "not the look". The only look that I know is actually attributed to EDS is for marfans type EDS-----in which patients have tall thin bodies..........

"Skeleton- People with the Marfan syndrome are typically, but not always, very tall or taller than unaffected people in their family, slender and loose jointed. The Marfan syndrome affects the long bones of the skeleton. Therefore the arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body. A person with the Marfan syndrome often has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. Other skeletal abnormalities include a sternum (breastbone) that is either protruding or indented, curvature of the spine (scoliosis), and flat feet. For more information: Orthopedic Concerns Brochure; excerpt from The Marfan Syndrome"

http://www.marfan.org/nmf/GetContentReques...?menu_item_id=4

http://www.cincinnatichildrens.org/svc/alp...an-eds/team.htm

http://www.cincinnatichildrens.org/svc/alp.../health/eds.htm

http://www.cincinnatichildrens.org/health/...rome/marfan.htm

http://www.ednf.org/abouteds/

http://www.emedicine.com/derm/topic696.htm

The skin can appear to be soft and have a velvety appearance-------cigarette paper looking scars ect. in the hypermobile type EDS. I have these scars, but my skin is so dry from my hashemotos thyroid disease----it does not always appear velvety unless I'm often moisturizing with lotions------------I have so many lotions--

I kind of dismissed the Idea of having EDS at first because Dr. Grubb didn't think I had it------but my body was always hypermobile, and none of this was checked out. I was not asked to show my hyper mobility until I went to New York to see a chiari specialist who said I most definately had hyper mobile EDS type III. Then the cleveland clinic said I have it----so I finally decided to see a specialist---and he diagnosed the EDS hyper mobile type, with skin and vascular involvement---formally known as type III.

My body type has been thin most of my life until I turned 43----after I was diagnosed with POTS and put on meds that made me gain 30 pounds. I lost 15 of it---(now going towards a size 10- )-----my appetite is poor at night, so if I don't get enough to eat during the day-----I'm pretty much out of luck. This is lately due to my pain increasing considerably more at night---also worsening my POTS symptoms.

I have met several people with EDS----about 1/3 were really thin, 1/3 were in the normal/to slightly overweight range----and the rest were over weight.

Dr. Grubb now agrees I have EDS..............

Maxine :0)

[Lukkychrm42]

That's interesting. The "look" I'm familiar with isn't so much HEDS as dysaut (particularly in adolescents). Supposedly it's common in adolescent onset dysaut to be tall and skinny, with the idea that the ANS hasn't caught up with the growth spurt yet... as well as some other traits.

I know that tall and very slender with long legs, large hands, etc.. can go along with Marfans, but Marfans is very different.

I was diagnosed by a geneticist after being told by both my dysaut. specialist cardiologist and my rheumatoogist that I had HEDS- based on family history, the Beighton scale, and clinical findings. HEDS has no tissue biopsy available for diagnosis- as opposed to the vascular type, and maybe a couple other specialty types (not hyper, and don't remember about classical.) Definitely check out the EDNF links that others have added for you!

While the HEDS comes from my mom's side, my dad's side gave me my body type- short, stocky, muscular, med-large skeletal frame... my sister's the same. My brother's the only tall, skinny one, and he doesn't have POTS, though he probably has HEDS.

[persephone]

There's a useful resource here that tells you about it, Lois!

http://www.hypermobility.org/diagnosis.php

I had various joints prodded and poked. Very helpfully, my mum was with me, and she had the same joints prodded and poked. It looks as if the hypermobility, dysautonomia, menstrual issues and even rare brain-stem aura migraines all come from her side of the family.

They look for 9 different joints being hypermobile in the Beighton scale, and you score a point for each joint that is hyperextensible. I scored 9.

Hope this helps. PM me if I can help any more!

Merry Christmas

[sfrnklin]

Cardiactech,

Sorry I am responding so late, I had to work yesterday and got home late and was too tired to internet it.

Dr. Grubb says "the look" is: Very tall and slender which I am 5' 8", blonde or fair haired can even be redish, pale velvety skin. The skin is very velvety and soft due to they very tiny nodules. Hands and feet are NOT big, they are very small and slender. My wedding ring finger is a size 4. My shoe size is a 10 narrow. I weigh 130 lbs.

I hope this helps. Not everyone who has EDS has "the look" though. He just said I did. He knew I had it the minute he walked through the door on my first appointment before he did any beighton or exam.

Susan

[Radha]

does anyone know of any medicine for this syndrome other than vitamin C? and does this get better or just stay the same forever?

radha

[mkoven]

For the most part it is my understanding that treatment is symptomatic. For joints, it's important to keep supporting muscles strong. Vitamin C may help, but eds is not a nutritional deficiency. The problem is that we make faulty collagen.

My own experience is that exercise does help as well as knowing my limits. When a joint starts to complain, I need to back off.

There is a lot of good discussion on ednf about whether it gets worse over time. My own sense is thst aging affects the robustness of normal people's tissues as well--it's just often more pronounced with eds. And many report that hormonal fluctuations worsen it.

[cardiactec]

susan,

sounds like me, almost to a T. my ring finger is 4 1/2, small hands but long and tapering fingers, long torso, long limbs, pretty darn flexible (can bend my fingers in multiple directions, including the thumb back to the wrist trick, i can lay my entire thumb flat on my wrist), i am somewhat double jointed, have MVP, TALL 5'8', narrow hands and feet, shoes size 9.

glad i found SOMETHING in common with SOMEONE.

i will be seeing a genetic counselor/neurologist in march for hypermobility/eds testing. i STILL dont think this is the cause of my orthostatic tachycardia though and wish someone would do an EP study! argh!

[sfrnklin]

Cardiactech,

Yeah, I hear you. I am super flexible and I am almost 40. I have been all my life.

The EP study thing. I understand your frustration. I have been reading many of your postings and feel your pain. I spent over two years begging cardiologist after cardiologist and EP doctor after EP doctor to do an EP study on me with no avail until I went to Dr. Grubb and that was his first plan of care for me. I did not even have to ask him. That was his idea. He gave me all the answers to my burning questions. Like my exact diagnosis, how I got this stupid disease (I was actually born with it) which I would have never even thought of, and how to take care of myself. None of the other doctors really knew what to do with me.

It has been a rough journey for me and I am sure for many people who suffer with this. There are just too many MD's out there who do not know enough about us.

Good luck and keep pursuing that MD that will finally give you what you want. If you can't find one, try Dr. Grubb. I'm sure he would. It takes a long time to get into to him and I have to drive over 8 hrs. to see hime, but IT WAS WORTH IT for me.

If you ever need anyone to talk to, just PM me or write me here. I understand what you are going through.

Susan