Hi everyone, I have come over from the other site.

I think this is a dumb question, but could someone explain to me the difference between chronic urticaria and MCAD?  I have been diagnosed with a hereditary connective tissue disorder (overlap Ehlers-Danlos and Stickler Syndromes), POTS, cholinergic and dermatographic urticaria and probable MCAD (I have no access to urine methylhistamine or PGD2 testing where I live).  

How are the dermatographic and cholinergic urticaria related to the MCAD?  Is the theory that some process causes mast cells to be over-active and that leads to the urticarias along with the systemic symptoms I have had (chronic nausea/diarrhea, bp collapses/severe tachycardia, pain, brain fog, migraines, fatigue, neuropathy, reflux, flushing, itching, breathing trouble, swallowing air/burping all the time...)?

Do some people have just the hives and itching without the systemic stuff and then they consider it chronic urticaria, but it "becomes" MCAD if you have urticaria along with the systemic stuff?

I'm sorry, I feel like I should know this after all the reading I have done, but the multiple conditions have me confused (as does the brain fog).

Thank you for your help in advance.

Hi Sarah!

It's not a dumb question at all!!  Very smart in fact, only it's complicated and I know that Heather is better at it than I am.

Sarah I've been diagnosed with ICU.  I did an autoimmune test for it and tested positive, which in truth I should not have for mastocytosis and CU are supposedly two very different diseases, or at least before the MCAD diagnosis went official it was considered so.  

However, all that has changed but there is still not enough research yet into MCAD to really explain how CU fits in.  

In testing for Chronic Urticaria, they now can perform the ASST skin test with is called the Autologus Serum Skin Test and this is nothing more than injecting your own serum back into your own skin to see if you react to yourself.   I did!   This proves that something autoimmune is going on.  However, mastocytosis, the classic form of the disease is a known neoplastic disease and this is a very different kind of disease.  However, for several years now some of the major immunologists in masto have strongly suspected that an autoimmune form of masto exists, or what they are now calling a Non-clonal MCAD patient.   I fall between the two in that I show the neoplasm but I also show the autoimmune and this is what has the doctors intrigued for they didn't think that the two could possible exist side by side.  

Now, what are the workings behind it?  That's a good question for there are a lot of possible mechanism that being IgG or complement or other imunological elements involved in this.  They don't know because they've not begun to study these patients!  Without studying us, they don't know an until they do, nobody really knows.  Heather has been proven autoimmune with her masto and she's likely the true non-clonal MCAD autoimmune patient for she's had testing done on her which proves that she has a high affinity IgE receptor on her mast cells and this, too, is a test which has been connected to CU, like the ASST test, but which has not been studied for MCAD.   However, both Heather and I are way out and beyond the symptomology for CU!   We don't live with just urticaria in fact I don't have urticaria I have masto and so does Heather and why it is that I tested positive, only God knows, but then I've got other autoimmune markers just as Heather does but once again neither one of us fall within the classic markers for those diseases so our doctors have basically said that we are "autoimmune mastocytosis" patients.   And this is coming out to be true.  

So, where do you fall into this, Sarah?   It think it would be worth your while to get some autoimmune testing done if you haven't done so already.   Tell the immunologist you go to that there does indeed exist an autoimmune form of masto and we can give you some information to help him at least get some kind of an idea as to this.  Then you should have a full IgE pannel run on you to see what allergies and antibodies you have.  The other immunological markers should also be run on you as well as an ANA.  They should also do an ASST test on you and perhaps that high affinity IgE test as well.  This may show whether you are autoimmune and see if you have UC as well.  However remember, the doctor has to confirm his findings as to your symptoms for CU is really just a simple disease of that, urticaria, and patients who are shocking and have awful diarrhea and other issues are more than that and like MCAD patients instead.  

You see, Sarah, the mast cell may be the culpret here, but since histamine is also released by basophils and that other mediators could be involved, it's still an open science and therefore complicated for our doctors.  

I hope this helps!

Lisa

Deborah, Lisa and Heather -

Thank you all so much for your replies.  I can't tell you how much it means to me that you take the time to explain this to me.  I am glad to hear that I wasn't missing something simple, and that a lot of this still hasn't been figured out.

I'm sorry it has taken me so long to answer, I had thought I'd get an email notification that these replies were here like on the other site, but I didn't so I hadn't noticed them for a bit.

Lisa, I'd love to have all that testing but I haven't even got a rheumatologist, and I don't know if there's one in my city.  However, because I have several diagnoses and I have been so sick for so long, a local internist has agreed to at least consult with me.  I copied all my labs and reports from out of town specialists, but I have nothing from an MCAD doctor so I am going to have to try to explain this to him myself and then see if he's willing to run the tests.

My family doctor did agree to some basic autoimmune testing which I just recently got back, but I don't understand the results.  Beside "ANA Screen" it says negative but also "See ANA Pattern", which is homogeneous, which it then says may be specific for lupus (SLE).  The ANA titer is 1:80, which also says possible SLE.  Then ENA, aDNA, gliadin, C3 and C4 are all negative/normal.

To be honest, I have been so exhausted from being sick and chasing down my other diagnoses that I haven't had the energy to even figure out what ANA is or what those results could mean.  If I have lupus on top of all this other stuff, I'm not sure I want to even know.  But I need to learn more so I can make sense when I try to explain this to the doctors and get them to take me seriously, when I feel like I sound like a madwoman or hypochondriac with all these disorders they've never heard of.  It helps me a bit that my mother's a doctor.

Heather, I hear what you are saying about focussing on symptom management and you are right.  I am now taking Zantac 150 mg AM and PM, Reactine/Zyrtec 10 mg twice a day, Singulair 10 mg, doxepin 20 mg, Gastrocrom 200 mg four times a day, midodrine for POTS and synthroid, and I just added low-dose aspirin but that's another story.  To be fair to the meds, they have definitely been helping.  In July-Oct 2010 I was bedridden, constantly having plumetting bp and SVT of over 200 bpm, I was itchy and my POTS was so bad I literally couldn't stand up.  I had daily diarrhea and severe nausea for much of 2009-2010.  All that is much better now.  I can drive again, do basic things for my kids, make myself small meals.  But my POTS is still so bad that I can't stand long enough to make dinner, I can't empty the dishwasher because my bp can't handle the constant position changes.  I basically get 1-3 hours of orthostatic tolerance on a good day and then feel the blood drain out of my head and feel awful/brain foggy and have to lie down.

I think that partly I need to be more patient, and I am hoping that when I finally get to see the autonomic physician on Jan 26 he might be able to help.  I read that people with MCAD and my kind of POTS sometimes do well on Clonidine or methyldopa.

What really worries me is this - I think that whatever is wrong with my mast cells has been going on all my life.  I certainly started to notice feeling tired and POTSY (didn't know the name of it though) in my teens and then in my twenties got IBS symptoms.  I have gotten worse after traumas like surgeries, car accident, an electric shock, both of my kids' C sections...until my body just gave out completely last year.  To some degree, this runs in my family.  My dad's side is suspected to have the connective tissue disoder, and something having to do with connective tissues/mast cells runs on my mom's I think.  My maternal grandmother died at 35 of Hodgkin's lymphoma and my cousin on that side currently has non-Hodgkin's lymphoma.

Needless to say, in light of the family history and my experience I am worried about my kids.  My son is 6, but is already showing some signs of strange things I had as kid and other symptoms of the disorders I have.  For instance, like the EDS people report, he has teeth that break easily and get many cavities, and his knees are often very sore.  He also has had reflux since he was tiny (as has my daughter), and some other things.

I feel like I have to find a doctor who will help me sort out the mast cell part of this and how it fits with the HDCT and POTS, so I can better manage my own symptoms but also to be prepared if my kids get sick.  Some HDCT/POTS kids seem to suddenly get really ill around puberty and I am terrified that I'd still be too disabled to advocate for them properly and for all the travel that would be involved.

I hope I don't sound nuts or hysterical.  I have felt like I was dying in slow motion for about 25 years (and much faster over the last couple).  I am very glad to have some relief so far, but like all of you I'm sure, want and need more.

Do you think Dr. Castells would be willing to read an email from me and maybe provide some info I could share with my doctors up here?  I have heard such nice things about her.  I have a dermatologist who diagnosed my urticaria and did tryptase and skin biopsy for me, but they were negative.  He has a couple of other patients with UP so knows about mastocytosis, but he seems uncertain when it comes to MCAD.  I understand this since it's still such an undefined condition, and I'm lucky he's willing to believe me and treat me.  However he seemed a bit doubtful and wanted me to test the diagnosis by trying to reduce the MCAD meds one by one.  I didn't want to because I'm still terrified I'll get bad again, but I did reduce the doxepin to 10 mg and within a week wasn't sleeping again and at night would have awful itching and flushing, malaise and trouble keeping my bp up.  I increased it again to 20 mg and am doing better.  I think if someone like Dr. Castells told him that there are others out there like me, it might help.  I did give him the Vanderbilt study about MCAD and POTS, but he had never heard of POTS so it didn't have as much of an impact as I'd have liked.

I really appreciate your advice and help, and any suggestions/info you have that might help me improve even more would be so welcome.

Thank you again-

Sarah

P.S.  I have checked that I want to be notified of replies, but I am not being notified - any suggestions?

I will remember about possibly increasing Singulair - I felt my doctor was reluctant to even prescribe it, as he is just going along with my theory about MCAD.  I don't want to push it with anything unusual, if that makes sense.

Plaquenil is quinine, isn't it?  I wonder if drinking tonic water helps at all.  My mother, who also has MCAD-type symptoms, but much less severe than mine, has always craved tonic water - weird.

Also, although my celiac test was negative, I think I do better when I avoid gluten.  Does that make any sense?  I have been wondering if MCAD makes my blood brain barrier leaky, allowing gluten to do similar things as it does with Celiac patients?

Can you PM me Dr. Castells' email address?  Should I just try to summarize my history and symptoms, tell her what meds I take, and ask her advice?

Thank you again, Heather-

Sarah

Thank you so much for her email address and for the additional info.  I appreciate your offer to look over what I plan to send, and when I have written it I will definitely take you up on your offer.  Would I send it to you in a PM?

Also, I have come across a few other people with an HDCT and POTS as well as masto, and a couple of them seem to be having trouble with coagulation (as in hypercoagulation rather than the expected hypo).  I seem to remember at some point coming across a mast cell mediator (or maybe something related to leukotrienes or basophils) that would promote clotting as opposed to decreasing coagulation like heparin.  Does this ring any bells with you?

Sarah,

I will try to figure out why you aren't getting notices of replies to this thread. I might have to enlist help, though, since I am not too computer savvy!

Thank you Nelson!! I just love it when my forum members help me figure things out!