Mast Cell Disorder?

[AppleScruffs]

Hi everyone,

Looking for any advice from those with some experience with mast cell disorders.

I'm being evaluated for possible mitochondrial disease, and have been waiting an agonizing 5 months so far for a skin biopsy report from the Netherlands (fancy, I know). Meanwhile, my mito doc wanted me to get a rheumy workup because of a history of high SED rates and CRPs.

Went to a rheumy who brought up mastocytosis. Reading about masto, it would make basically my entire life story from infancy make a whoooole lot of sense. However, when I asked her to run a serum tryptase or urine histamine level in my followup appt, she said "mastocytosis is kind of outside my realm of expertise...see you again in 3 months." Blargh.

So, my question is: are serum tryptase or urine histamine tests things that my primary care doc could run on me? Or do I need to seek out a hematologist or an immunologist?

I have an immunologist who was treating my 3-times-a-year-or-more pneumonia/bronchitis bouts with allergy shots, which was going great for a bit, but then every single time I got a shot, I ended up wheezing the next day, and within the week had either bronchitis or even pneumonia. I told him that I felt the allergy shots were causing these episodes, and he said they couldn't possibly be the culprit, so I basically just went allergy-shot-AWOL about a year ago, and haven't had a single bout of ANY respiratory illness since (yay for listening to your body). Needless to say, I kind of hesitate to return to this office to pursue testing for masto, and I don't think we have any other immunologists around here. I guess I could go a few towns over to a university medical school and pursue it, but I have been spending so much money and time going to big research depts. in pursuit of the mito idea, I am so tired of the whole mess.

Anyhow, any advice appreciated. I can post more on symptoms that lead rheumy to bring this up, but I figured this post was long enough lol...

[Sarah4444]

Hi there-

I saw a dermatologist who was familiar with cutaneous mastocytosis (I only have dermatographia), and he ran a tryptase test for me. He tried to order the urine methylhistamine, but it isn't available where I live. I think a hematologist or immunologist might be the right person, but if you could find one familiar with mastocytosis that would probably be best. From what I have read so far on masto forums, that can be hard to do. Let us know what happens, and sorry I can't be more helpful at this point.

[Friedbrain]

Just adding that this is interesting. I have a looonnngggg history of getting bad bronchitis every year with the changing of the seasons. A cold that turns into bronchitis. Eventually, thinking it through, I kinda self-diagnosed it after noticing the pattern: I have autoimmune issues, so it made sense to me that my body was over-reacting to the cold, resulting in inflammation (ie, in trying to help, my body caused the bronchitis), so I started doubling my cortef and ta-da, started self-curing the bouts.

Lately, I've been having rare but VERY annoying bouts of both itching and welting (around my underwear lines); along with both minor and (one) severe episodes of facial swelling (nocturnal, gradually going away in the am). Someone here mentioned mentioned peanut allergy after my severe scare, so I stopped eating peanuts and it went away for a while, only to have the itching and minor swelling (eyes and lips) come back this week.

So....maybe it's all related. I am going to write your comments down because I'm seeing my FP doc on Friday. I wasn't holding out much hope that she could diagnose anything because, well, it's not predictable and it's not usually observable later in the day, but I wanted to talk to her so that I know what to look out for (my biggest fear is for the swelling to progress in the middle of the night and I suffocate, and I want to know if there's a way to know when serious is SERIOUS). Now I know some specific questions I can ask her, so thank you

[juliegee]

Sarah's right. Finding a doc that is experienced with mastocytosis would be helpful, but ANY doc can order a serum tryptase blood test. That's basically all it takes to rule mastocytosis out. An allergist/immunologist would be ideal. If the test is high- most likely you have mastocytosis. If it isn't, you may very likely have mast cell activation disorder/MCAD.

All the best-

Julie

[AppleScruffs]

Thanks for the responses, guys. I think I'll go ahead and make an appointment with my primary and see about getting serum tryptase looked into. Friedbrain, let us know how your appointment goes. Here's hoping you find some answers

[Sarah4444]

Keep in mind that many mastocytosis specialists seem to feel that tryptase can be a very unreliable test, and that there is at least one kind of mastocytosis (bone marrow) in which the tryptase results are typically low. So a normal tryptase result is not really a clear indication of what is/isn't going on - the masto world seems even more undefined/controversial than POTS at this point.

[juliegee]

To touch on Sarah's point- tryptase is a very unreliable test as far as it's ability to indicate anaphylaxis, but is quite reliable in it's ability to indicate mastocytosis. In other words, IF your test is high- you very likely have mastocytosis. If your tryptase is low, it is much more likely that you have MCAD...although there is one type of mastocytosis in which tryptase is low. A low/normal level would be a very rare exception in a patient with mastocytosis, which is also considered a rare disease.

Doctors and researchers are currently searching for reliable laboratory markers for anaphylaxis, itself. Until recently, the serum tryptase test was the gold standard for confirmation. More recent research shows that it only rises in some patients following an episode of anaphlaxis... Hence, it's unreliability.

Confusing, indeed! If mastocytosis or MCAD is suspected, the best doctor to help you would be a mast cell specialist.

[Friedbrain]

Friedbrain, let us know how your appointment goes. Here's hoping you find some answers

<shrug> I saw her and she said it sounded like an allergic reaction, and that she'd be happy to schedule an appt with an allergist or make the referral for me if I wanted to pursue it..... I wasn't surprised. I haven't found FP docs to be very helpful in trying to figure me out. Heck, even specialists call me a difficult case. She reassured me that if I were having a life-threatening allergic reaction, I would wake up and know it, which I guess was the basic answer I wanted. Aside from that, she said there's no way of really knowing what I'm having an allergic reaction to (since I haven't been eating peanuts like last time, haven't changed detergents, haven't changed meds...), and was not at all interested in discussing possible testing. Just a "pleasant willingness" to pass me off to someone else. I get it; just disappointed in wasting $30 (even though I kinda knew that's what would happen).

So....keep posting here whatever you find out! Thanks!

[juliegee]

Keep following your gut.. That's how my DX started too, with allergy testing. It's frustrating, but a good starting point. It could be a traditional allergy. If your symptoms warrant, keep seeking answers.

Hugs-

Julie

[cnm1]

Hi

Unfortunately Julie is right - seeing a mast cell specialist is the best idea. My daughter, Rachel, has had several visits with Mariana C Castells, MD in the last few months. Rachel has added MCAD to her dx list and more meds: gastrocrom and something else that I can;t remember right now . RAchel is in grad school in Boston so it made it a bit easier for her to get into see Dr Castells. Good thing I kept her on my insurance - the tests and meds are pricey and would not have been covered by her crappy grad school insurance.

Rachel was impressed with Dr Castells - kind of the "Blair Grubb" of mast cell stuff. Good luck!!

Louise

[cnm1]

For those pursuing mast cell disorder, my daughter, Rachel, has been on gastrocom for 2 weeks (along with her other meds). She says it is the best she has felt in 10 yrs. She able to do aerobic exercise and not crash. Very exciting!!! It has been almost 10yrs since she got sick - 5 of those years were homebound. She has made steady progress over the 5 years with meds, diet, lifestyle modication and is attending grad school full time. There is hope!!!!

[Chaos]

cnm1- SO GLAD to hear that your daughter is doing so well these days!! It's always nice to hear success stories and that people, while maybe not back to "normal", are able to live fully and enjoy life again. Thanks for sharing!