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Kris4444

Those With Eds, Can You Give Me Some Insight?

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My rheumatologist has been trying to find someone to evaluate me for EDS. We had never considered this as a possibility until I went to Mayo and got the hyper diagnosis. Coming to this forum I realized that I may have the triangle of diagnosises, hyper pots, mast cell and EDS. He feels that a geneticist is who I need to see for this diagnosis. He wants the full work-up done.

I have been researching EDS and trying to find a doctor to evaluate me. I found one in Chicago (right across from my rheumy) but they can't get me in until May. The rheumy said he would look into it too but I realize I am not his only patient so I am trying to do the leg work.

My questions are many and I'm hoping that maybe those of you with EDS and or mast cell issues can give me a clue as to if I should bother trying to get diagnosed. I really want to put a name to what I have. I'm not sure why, maybe so that I can fight against it and have something to call it? Originally I was diagnosed with scleroderma because of my Raynaud's and GI dysmotility. That diagnosis was overruled by a world class expert and he diagnosed me with UCTD (undiferentiaed connective tissue disease) and also referred me to Mayo for the ANS eval due to the frequent flushing episodes.

So here are some things about me that I think may relate to EDS:

Leaky heart valves. I have trace mitral and tricuspid regurgitation as well as mild pulmonic valvular regurgitation. I was told this was normal?

I am very double jointed, elbows, thumbs (I have dislocated them many times) ankles. I can touch the floor with my palms, knees not bent and even fat I can put my feet ontop of my thighs (picture the meditation pose) My children are just as double jointed. They have the elbow thing just as bad as mine which is pretty gross to look at and their knees are just ridiculous. I have blown out tendons in my forearms and elbows from hyperextending them.

I have degenerative disc disease, have had back surgery to fix herniations. I currently have herniations in my cervical and lumbar spine as well as spinal stenosis. I also have spondyloarthritis of the spine, I'm bone on bone at L4/5 and L5/S1. I have fibromyalgia.

I bruise so easily!

Have IBS and severe colonic inertia

Microscopic colitis

Carpal tunnel

tendon ruptures

Raynaud's phenomenon

Livedo reticularis

I also have cold urticaria which I think is more of a mast cell issue. I have tested positive for cryofibrinogen which is a rare protein found in the plasma of the blood which points to issues with the cold. I tested positive at Johns Hopkins but negative at Mayo so now I'm not sure.

My rheumy is going to call the doctor across the street from him and see if they can somehow squeeze me in. I am halfway through a 30 day medical leave at work and would like to try and get as many doctor's visits in while off work.

Please let me know if you think I should look into this diagnosis further or if I am just grasping at straws. Thanks.

-Kris

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Well it definitely sounds possible. If you are in the Chicago area one of the best EDS drs is Dr Brad Tinkle. O think he takes some time to get into though.

You can also check our the Ehlers-Danlos National Foundatjon site & forum. There is dr listings as well as a lot of other info and advice. Someone on the forum may know of a dr in your area.

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It looks like you might have EDS/other connective tissue disorder. If you are in the Chicago area..definitely go to Dr. Brad Tinkle..he is one of the leading experts for EDS. I just read his book and it is wonderful. I think they are scheduling into May for him right now. So, earlier you make the appointment, the better. As suggested, take a look at ednf.org..there's a great group on Inspire for EDS. You don't have to have a diagnosis to participate there.....

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As you know, I've been down a similar route, with an initial diagnosis of UCTD then eventual diagnosis with EDS III. It certainly sounds like you may well have it from what you say. I wasn't aware that I had degenerating discs and arthritis until I got my EDS diagnosis, up until that point I was being told by rheums there couldn't be much wrong as I had such good flexibility and joint mobility! Your list sounds pretty much like my own, except I only have very slight mitral valve regurgitation.

A geneticist won't help for EDS III, as the genes for the hypermobility type are unknown.

So no, I really don't think you are grasping at straws, I'd certainly pursue an dx of EDS if you can, if only to avoid being treated inappropriately for other conditions and also so that the abnormal makeup of the collagen is taken into account when considering further surgical interventions. Also, once you find out you have EDS, so many things seem to fall into place as hypermobility is associated with other neurological peculiarities such as poor proprioception, which makes us clumsy, very bad at ball games etc, and you realise you weren't just being stupid, it's all just part of how we're made.

My mother and grandfather (from whom the EDS heredity derives) both suffered badly with non-allergic urticarias, my mother suffered from severe urticaria and dermographism, she was on H1/H2 blockade for years without any relief from them. I've never found even high doses of various H1s and H2 did anything for my flushing or skin irritation, probably because neuropeptides other than histamine are causing the flushing/redness/swelling. I'm currently getting signs of severe vasodilation/burning pain in my sinuses, tongue and throat, since coming off clonidine I've had severe, non-stop rhinorrhea and throat irritation. Last night I had a terrible cheek flush that spread into my ear lobes, ear canals and down into my throat, the burning pain everywhere was unbearable. I'm due to see a dermotologist, who is supposed to be working with the autonomic team, in 6 weeks time but I'm not optimistic they'll be able to get to the bottom of anything. I'm still waiting to see someone at the National Neurological Hospital in London, they are supposedly more familiar there with the neurological peculiarities of EDS, but it will take many months again before we get anywhere, by the time they've organised a new round of autonomic tests etc.

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Elizabeth - that reaction is more like a mast cell reaction - and same with throat.

EDS III can not be tested with genetics. And really the type of EDS that you'd for sure want to know about is the Vascular type. Of course, we want to know ---but, that type is the scary type. There is very little that can be done for it. But, it does put pieces of the puzzle together for you. Yes, lots of arthritis and degeneration go along with an EDS DX.

Sounds like the two of you are on the right path. Keep searching - you're getting closer.

Issie

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When I saw Prof Mathias, leading autonomic expert in the UK, he didn't think it was a mast cell issue. I've no doubt that mast cells are involved in flushing and other vasodilatory reactions, and that high norepinephrine levels are involved in triggering them to produce vasoactive substances, but that isn't the same as having mastocytosis or mast cell activation disorder, where the number of mast cells proliferates hugely and start to infiltrate bones etc. Plus, it isn't just mast cells that can produce vasoactive neuropeptides, platelets and endothelium also release vasodilatory substances and there are many kinds other than histamine that could cause similar reactions.

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When I saw Prof Mathias, leading autonomic expert in the UK, he didn't think it was a mast cell issue. I've no doubt that mast cells are involved in flushing and other vasodilatory reactions, and that high norepinephrine levels are involved in triggering them to produce vasoactive substances, but that isn't the same as having mastocytosis or mast cell activation disorder, where the number of mast cells proliferates hugely and start to infiltrate bones etc. Plus, it isn't just mast cells that can produce vasoactive neuropeptides, platelets and endothelium also release vasodilatory substances and there are many kinds other than histamine that could cause similar reactions.

This is all true. Mast cells themselves release much more then just histamines. There are many things released when there is a degranulation.

Issie

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