Disorders of Collagen and ASDs & low blood pressure

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Disorders of Collagen or Connective Tissue Disorders (not connective tissue diseases) have been one of my perseverations in the past. I haven't kept up on a lot of reading about them, but they still interest me because they run in my family (from my dad) and the most ASD people in my dad's family also had what looks like a connective tissue disorder. Only my ASD kid is officially diagnosed with one.

If you haven't heard of Ehlers-Danlos you might have heard of Marfan syndrome which is what some people think Abraham Lincoln had.

Basically disorders of collagen cause loose connective tissue. Connective tissue is just about everywhere in your body, but you can see it more or less plainly in tendons and ligaments. Collagen is even part of the developing brain.
This definition is pretty good.
http://www.skinatlas.com/eds.htm
There are different sub-types and it's probably more common that they used to think it was.
CNN has a pretty good collection of info on it.
http://www.cnn.com/HEALTH/library/DS/00706.html
This is an interesting paper, and it's free.
http://rheumatology.oxfordjournals.org/ ... l/44/6/744

I used to have one of these "cigarette paper scars" on my knee, it was there for like 20 years and finally faded away. I got it when I was 6 years old I can still see where it used to be, it's just barely there.
http://www.skinatlas.com/eds1.htm

Anyway... ambuend has EDS and Kassiane has it, and I have a mild form of it and my kid has a more obvious form and is diagnosed.

Over the years I have read many ASD people describe symptoms that might be something like EDS.

So I think there could be a connection between connective tissue disorders and autism. There is a connective tissue aspect to Fragile X for instance, and there is a problem with elastin (a connective tissue protein) in most people with Williams syndrome (if I remember correctly).

Do you bruise easily? Is your skin very stretchy? Is it noticeably thin? Is it very soft and "velvety"? Are you lanky with longer legs and arms proportionate to your body? Do you have longer than typical fingers and toes? Does your skin damage easily? Do you have cigarette paper scars (they look wrinkly and shiny)? Can you easily touch your forehead to your knees? Are you "double jointed"? Got arthritis? Wide set eyes? Thin eyebrows? Can you touch your tongue to your nose? Low blood pressure? Flat feet or very high arched feet? .pectus excavatum or pectus carinatum http://www.nlm.nih.gov/medlineplus/ency ... s/9011.htm (chest bones that dip in or bulge out)?

None of these alone would mean you probably had a connective tissue disorder, but together they might. Not everyone with EDS will have all of the above symptoms, not all people with Ehlers Danlos have long skinny arms and legs (I do, though).

Here's a brochure pdf
http://www.ednf.org/dmdocuments/eds-bro ... gh-res.pdf

Here's a video of a show about a guy with pretty extreme Ehlers-Danlos.

http://www.ednf.org/media/Medical_Incredible2.wmv

There's a response to that show here
http://www.ednf.org/index.php?option=co ... d=88888966

Looks like an expert on EDS was angered by it..

Anyway, it's one of my interests so I'm asking if anyone else has these symptoms.

I know I am more flexible than most people, and this always puzzled me a bit.

I have a lot of these symptoms and I definately have pectus excavatum. Have you ever heard of trigonocephaly (It's like having a high, pointy forehead)?

Several medical doctors tried to pin Marfan's Disease on me because I had an aortic aneurysm above my heart and had
cardiac surgery recently. But, I know all the "signs" of Marfan's...and I don't have any of them.

Sometimes when doctors has no answers, they try to pin whatever diagnosis they can on a patient.

Autism Diva, I couldn't open up that wmv file for some reason. My computer has issues. Do you feel that the "patient" was treated like a sideshow act? Frankly, I feel tv does that to just about everyone.

Yes, I've heard of it. Another of my perseverations has been dysmorphology. That's the study of oddly shaped people.

Do you have other connective tissue disorder traits, like easily damaged skin, etc? Not all people with connective tissue disorders look like they have Marfan's (have the Marfanoid habitus).

Well they had him doing contortions on the video, exactly the kind that contortionists do. The interesting thing about the guy was that he was very deep into martial arts. On the one hand he thought it helped him to deal with his problems. For instance, he is constantly dislocating joints, when he sleeps his ankles get disjointed so he has to pop them into place before he stands up in the morning. They showed him doing this. And the force of some of the things he does in martial arts (sword fighting) dislocates his joints.

So it seemed to me that there would be another exercise that wouldn't add to him dislocating his joints, but he like what he was doing. He married a woman who also has a serious form of EDS and she had two kids, her son was quite impaired by it. The step dad looked to me the way I would picture a person with serious EDS (very skinny), but the boy was kind of pudgy, stocky. Anyway, the boy was learning martial arts too, and he dislocated a finger (I think) while doing something and he was in a lot of pain and they showed him crying. That was sad. The step dad didn't seem to be in pain when he had dislocations.

Anyway... I wasn't offended by the video, because the guy who was doing the contortions wrapping his legs and arms around in crazy ways that I could never do... didn't seem to mind it. He looked like he was doing extreme yoga or something, as I remember.

But we all have our sensitivities and maybe there's a large portion of the EDS community who are offended by the "Hey do that thing you do again!! !" attitude. EDS people really have been side show "geeks" in the past, and probably some still are. They can pull their skin out far from their bodies and it snaps back without hurting. My kid can do this to some extent, though not enough to get a job as a side show geek. I can too, but not as much as my kid can.

One other thing is that parents of EDS kids try to keep them from doing the side show stunts like dislocating their shoulders for fun because it's supposed to be a really bad idea to do it deliberately, it can lead to more arthritis later or something.

I can't dislocate any joints, but they are loose. If I pick up a heavy bucket by the handle, for instance, I can feel my joints sort of coming apart from my hand up to my shoulder. It would be a bad idea for me to take a job that involved a lot of that kind of heavy lifting.

I am, if anything, hypomobile, and have been all my life.

However I do have a bleeding tendency that has no apparent cause. It isn't severe, but it is of enough concern that I am to take Tranexamic Acid prior to dental extraction or any surgery, and need blood cross matched before hand just in case.

This was discovered when I had a bilateral mastectomy a few years ago and bled lots from the right ex-breast right after surgery (whilst still in recovery), requiring me to go straight back to theatre, and then to have 3 units of blood. Then when the drains were removed from the left ex-breast I bled into the cavity a lot, my blood pressure fell through the floor, I had lots of fluid squeezed into me very quickly, and had to go back for more surgery to fix the bleed, and then have more blood transfused into me.

The ex-breast that suffered the larger bleed (and had massive, very rapid stretching of the skin as the bleed occurred) then developed a haematoma about the size of a squash ball, which resolved sort-of, and left a significant patch of necrotised fatty tissue.

This bleeding was explored, and an initial possibility was that my factors XIII and IX were slightly deficient. On further exporation though my results came back normal.

I don't scar particularly badly, my skin is quite resiliant, and considering how clumsy I am, I don't really bruise particularly interestingly.

I do have random joint and muscle pain, but I think this is more to do with Dyspraxic inefficient and unbalanced gait, posture etc, and a family tendency toward joint pain.

Best wishes

Wow, scary! I don't know if there's a way to tie that in with a connective tissue disorder, but there is one form of EDS that has to do with platelets and fibrilin...?

It was very scary at the time! THough I've had surgery since (to remove the necrotised fatty tissue) and with tranexamic acid (which stabilises clotting) all was well, so I am a little less unnerved by the whole affair. I also wear a Medicalert bracelet just in case, which makes me feel more comfortable.

I knew there was a form of EDS that affected the vascular system, which is why I posted here, as I thought you might find my random bleediness of interest! However, I don't believe I have the vascular form of EDS - I don't fit the general symptom / trait pattern (thankfully, as it seems rather serious).

However, it could be that I have another "thing" that is related to EDS type "things" and related to AS type "things" if any of that makes sense. (Please forgive my inarticulate rambling - it is past my bed time)

Best wishes

Robin

Yeah, there's the problem with delicate (friable) blood vessels, and there's another subtype with a problem with platelets and clotting, though I think that one is very rare.

I think I may have Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome type III.
It's not at all severe, so I don't need a diagnosis or treatment, but I find it interesting.

Wow, people with ASDs are prone to just about every physical health condition in the world these days.

This site is turning me into a hypercondriac.

I have Classical Type (type 2) and have found there are a ton of people on the spectrum in the EDS community...one of the guys who manages EDNF's site has AS.

There are a lot of people who have EDS and an obscure bleeding disorder...there is a surgeon who does neurosurgery on us and always tests for clotting disorders before he starts. My mom has EDS, Lupus and a disorder that makes her blood clot too quickly.

I have EDS and low blood pressure (so low that it has caused confusion when doctors check it, not to mention on the old standards my blood pressure was not even listed on the lower threshhold).