Doctor From Johns Hopkins Gives Me His Thoughts

[Kris4444]

I had gone to JH in August to be seen by a rheumatologist because I was diagnosed with scleroderma and I wasn't convinced that was correct. I saw a leading expert and he said I had some of the characteristics of sclero such as the Raynaud's and GI issues but that his feeling was that I had UCTD not sclero.

While I was there he was very disturbed by my flushing episodes. They were really out of control that day and he said he lost track of how many times I flushed during our visit. He wanted this checked out and referred me to Mayo to have my autonomic nervous system tested.

He recieved all the info from Mayo and when I told him that my rheumy here at home was pursuing mast cell and EDS this was his response, please tell me what you think:

"I do not think that either mast cell defect or ED is the answer. I think you have a hypersensitive thermoregulatory system in the skin which is provoked by cold or hot. The problem is likely not a systemic disorder but a local defect in the vascular responses to usual signals. Let's see what your Rhuematologist comes up with but I suspect the underlying defect will be hard to define given the extensive work-up to date, beyond what I have said and the focus should should be on how to manage it."

Thoughts? Should I stop looking for a name and just start dealing with the issues at hand? Should I not look into mast cells or EDS? I really feel the need to know what this is and what is causing it. Maybe I need to stop obsessing and just deal with it?

[DoozlyGirl]

Kris,

Did he share WHY he thinks your issue is a localized problem and not a systemic one? Maybe it's both. His description of hypersensitivity thermogregulatory issues provoked by hot or cold sounds a lot like Cold and/or Hot Urticaria to me. And this is a mast cell disorder, which many have been diagnosed with before the term MCAS was even coined. Was the room hot or cold when you kept flushing during you appointment?

And what happens if this guy is wrong? Does he have expertise in EDS or mast cell activtion syndrome? Because it is hard to connect the dots until you are in the weeds trying to understand the complexities of any of this.

I'll be honest, the mast cell diagnosis is not the magic bullet, because then you have to figure out the whys/causes of mast cell issues. But I have learned there is NO MAGIC BULLET. Understanding mast cells has taught me what is happening in my body and how my misbehavin' mast cells are triggering my debilitating autonomic issues through anaphylaxis and plummeting BP. Learning about the things tht could explain why my symptoms come and go is a HUGE part of me being able to manage and accomodate my symptoms. This is allowing me to focus on fixing my broken biochemistry.

Figuring out what is going on in your body and what is causing your symptoms and ill health IS DEALING with it.

Best wishes,

Lyn

[Kris4444]

Lyn - what I quoted was the entire email.

I don't know what he knows about mast cell or Eds. He is a Scleroderma expert.

I have not responded to him yet but want to know why too. Just not sure what to say yet.

It was warm in the room. My hands were puffy and mottled.

[Kellysavedbygrace]

I'm with Lyn on this one.

If it were me I'd go ahead and get a consult w a mast cell specialist.

[Kris4444]

I think that I have no choice. I really want to know what is causing this.

Another thing I didn't mention...I had tested postive for cryofibrinogen when at Johns Hopkins. They tested me again at Mayo but said it was negative. I'm not sure they did the test correctly though because they have to wait 7 days and the results were in by day 2...when I questioned this they had the vascular guy call me and reassure me that I do not test positive and that it was probably a false positive at JH. Seeing as I have been diagnosed with cold urticaria and have Raynaud's it only makes sense that I MIGHT be positive.

Right now I am questioning everything and probably making myself and everyone else nuts. I have had this going on since 2008. I have 30 days to figure this out. I'm going to have to push to make this happen and I don't want to anger the doctors who have been helpful thus far. UGH! So frustrating!

[spinner]

Definitely for all of us it is both.

You manage every aspect of your health by making changes that help and use everything at your disposal including meds to make life as functional as possible.

You also keep seeking answers as hard as you can. You keep researching and exploring (like youre doing on here) to nail down the exact diagnosis. Unfortunately, its brutally hard and we all need to take breaks from it.

The doctor was giving you his best judgement. But he has limited time. He has to see 20 people a day.

My own sickness has evolved from one thing to the next, i keep learning more and more.

Each body system can affect the other. I have fibromyalgia, and theyre now thinking it may be a disorder of

the central nervous system rather than immunilogical.

Its a lifelong process with a chronic illness which is a challenge but the more info you have the more power.

I would never trust any one indivudal person unless they solved all your problems. All else is opinion.

You know your body much better than they do.

[Kris4444]

I was diagnosed with fibro at 19. I'm 41 now. So I've been dealing with health issues my entire life. I was diagnosed with migraines at 13 as well as IBS. I had mono in high school and also was anorexic which I think really screwed up my system. In 2008 I got a really bad EBV infection and that was when the autoimmune/rheumatological issues got really bad, joint pain, blowing out tendons in my forearms and feet. Then the Raynaud's started and the cold urticaria/heat intolerance, exercise intolerance and inflammation in various organs as well as nodules on my thyroid. Seems like everytime I turn around it's something else. We went to Mayo to find THE problem and only ended up finding ANOTHER problem and getting a new drug to try. Not exactly what we were hoping for.

I'm frustrated already but hopeful that the Mayo doctors at least opened some doors with the "hyperadrenergic state" diagnosis that the doctors that I see regularly can look into like EDS and mast cell. If that isn't the problem then I don't know what to do.

[Tachy Phlegming]

Hi Kris,

I think you do need to have a more definitive diagnosis both for treatment and for getting accomodations and financial assistance.

If I were in your position, I would focus on the word "urticaria," bring in the following two articles, ask for just a few key tests, and then ask for heavy treatment and a proper description in your medical record and/or letter you can use for getting the help you need outside of just meds.

The following first link delineates a few different types of urticaria, one of which you might wish to have put in your medical records, along with more subtle test results so it's not just "oh hey, cold urticaria." The second link details hypocomplementic urticarial vasculitis for which you might want to ask to be tested. (You might also have them consider the autoimmune type).

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2492902

http://en.wikipedia.org/wiki/Urticarial_vasculitis

Somewhere in those two links, there are references to EBV, thyroid abnormalities, a lupus-like appearance, a passing reference to mast cells (which should be left at a passing reference), abdominal pain, swollen hands (angioedema), weight gain, possible kidney problems, and hypotension (I think on here, we think of racing heart and hypotension as two sides of the same coin).

If you were to get positive test results on one of the more serious types, it really is a systemic disease which has to be treated and not brushed off as "hypersensitivity" and "a local defect." I'd guess too, that it's just one defect -- but still, the conditions outlined here do indicate it will get your skin, make you collapse, and give you a big punch in the stomach. You'd really need major treatment and should be able to get a decent letter and note in your records. But the doctors would need to "focus" on urticaria, as it's described in the standard literature, not by what they dream up in their minds. Hypersensitivity, while perhaps true isn't a complete description of urticaria. What is described in these articles (and it's only urticaria) is in fact systemic. And yes, maybe they'll find you have some better understood systemic disease at some later point -- but it's sort of unclear if one is always found.

What you have now, 1/8 UCTD (hey, looks like scleroderma), 1/8 lupus, 1/8 MCAD, 1/8 EDS, 1/8 -- "hey, some localized problem," 1/8 -- I was once positive on a cryofibrinogenemia test, 1/8 -- the Mayo said I had a hyperadrenergic presentation, 1/8 -- the latest doctor asked me "who are you anyway and why are you important?" amounts to a whole lot of nothing.

But again, I'd go in asking about urticaria, and not in a vague general sense. I'd point the doctors in the direction of these articles and ask for very specific tests. (You might as well get the cryofibrinogenemia test a few more times just to be sure while you're at it but given some of the other symptoms, you'd really need to check if that's typical of most of those patients).

http://www.medicine.wisc.edu/~williams/cryofibrinogen.pdf

[Kris4444]

Hi Tachy,

Thanks for the posts. There is a lot of good information here that I intend to look into.

The biggest problem for me at this point is finding the right doctor to look into the urticaria. I saw an allergist who diagnosed the cold urticaria. I was not impressed with him. My rheumatologist is looking into a geneticist for the EDS, maybe I can ask him to find an allergist or should it be a hemotologist?

When I saw the GP on Friday I showed him a picture of me from the day before after exercise. He pointed out how swollen my face was, especially around my nose and eyelids. He asked if I had ever taken antihistamines for the flushing. I have not. We had tried keeping me on a daily dose of zyrtech but the constipation got really bad. I started using it only when I was going out the door to ride my horse in the cold and it has worked for the hives that I would usually get the day after.

Thanks again for all the advice. I will read up on the links. Looking forward to hearing from the GP tomorrow and hearing his thoughts and ideas.

[spinner]

Kris, wow, you've been down a path I've been down, chronic undiagnosed illness and multiple illnesses. I cant relate to how hard your path has been

because I've only been on this journey for 3 years. Each time they finally found something wrong, i had hope that would be that, and it only led to

more searching for a cure. You get to the point where you want to give it up. I'll be praying for ya, (probably not supposed to say that on here lol).

Youre making more progress than you think learning as much as you have. Theres a mast cell guy in nc in case you live in that area.

I was diagnosed with fibro at 19. I'm 41 now. So I've been dealing with health issues my entire life. I was diagnosed with migraines at 13 as well as IBS. I had mono in high school and also was anorexic which I think really screwed up my system. In 2008 I got a really bad EBV infection and that was when the autoimmune/rheumatological issues got really bad, joint pain, blowing out tendons in my forearms and feet. Then the Raynaud's started and the cold urticaria/heat intolerance, exercise intolerance and inflammation in various organs as well as nodules on my thyroid. Seems like everytime I turn around it's something else. We went to Mayo to find THE problem and only ended up finding ANOTHER problem and getting a new drug to try. Not exactly what we were hoping for.

I'm frustrated already but hopeful that the Mayo doctors at least opened some doors with the "hyperadrenergic state" diagnosis that the doctors that I see regularly can look into like EDS and mast cell. If that isn't the problem then I don't know what to do.

[Kris4444]

I'm sorry to hear you have been through so much Spinner. It's not fun. The greatest thing about going to Mayo was having them tell me it's not all in my head, they KNOW something is going on, they just don't know what is causing it. Story of my life!

Thanks for praying for me (I don't think anyone is going to get upset over that and I need all I can get lol) I'll do the same for you!

[Tachy Phlegming]

Did you see two posts? I thought I posted and then rewrote it when I didn't see it.

At any rate, I think getting a good doctor for fully investigating "urticaria" will in fact be difficult and I have no idea what speciality you need to see. It may in fact be hematology (I might ask for that in your shoes because you need odd blood tests). I get the sense that they are research-oriented and willing to take the time to understand slightly more complicated medical issues as well as go to bat for patients if need be (and they probably will give you decent meds which are a little more tailored based on tests).

Dermatology might start you on your way but they can be a little simplistic and I don't think they do a lot of blood tests (although they might be pretty inclined to give you steroids before you can get tests -- may be good for treatment, rotten for diagnosis).

Allergy probably will get you nowhere ...glad the one you saw had heard of cold urticaria but that's hardly something you couldn't find out on your own.

[comfortzone]

Just throwing this out there - maybe you'll find as I did at Mayo that I didn't even need to be offered a work up for mast cell stuff ~ the doc simply asked if I did much flushing - I said my whole life there's been times where I did and times where I didn't - but yes I am familiar with it - then menopause came and went - I get flushing still - but the cause I am clueless too.

But as I have EDS, OI, SFN, baseline of sinus tach and problems with functioning/fatigue and cognitive issues - was offered the treatment for Mast Cell stuff. No mention of more labs, or 'causes' if it is Mast Cell - none of it - but simply a treatment regimen offered - short and sweet. I haven't taken them up on it yet - maybe a bit of a doubter ... I mean flushing is the least of my own personal issues - but your seems extreme - might be nice if they'd just extend the 'cocktail' of meds to you - hope you feel better soon.

[Kris4444]

Tachy there was a post earlier and then it was gone and then the current post appeared. I am going to wait to hear from the GP today and also bug the rheumatologist again to see where he has gotten with things.

Actually at Mayo the vascular doctor wanted to run tests for histamine but the lab told him they couldn't do the test for some reason.

[spinner]

at cleveland clinic you'd want rheumatology for uticaria.

They told me they see about 140 different diseases.

The assured me i didnt have that. They can examine you and tell from experience the likelihood of things.

They told me the same thing for sclerodoma. My body is overheating but they dont know why.

They think it could be endocrinological. My own theory is that it could be celiac related. Im seeing

TONS of stuff on celiac forums describing overheating. Changing diet is one way to confirm suspicions.

Physicians dont talk much about this unless theyre holistic. Paleo is helping a lot of people.

If youre cash strapped id go on these forums, fibromyalgia, celiac, pots, adrenal, leaky gut.

You WILL learn something useful, because these chronic diseases overlap.