Mast Cell Disorder?
Posted 27 March 2011 - 07:32 PM
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...
Posted 27 March 2011 - 07:46 PM
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.
Posted 29 March 2011 - 07:14 PM
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
Posted 29 March 2011 - 07:24 PM
All the best-
Posted 29 March 2011 - 11:41 PM
Posted 30 March 2011 - 10:21 AM
Posted 30 March 2011 - 11:56 AM
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.
Posted 01 April 2011 - 08:15 PM
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!
Posted 02 April 2011 - 08:18 AM
Posted 02 April 2011 - 12:53 PM
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!!
Posted 09 April 2011 - 09:28 PM
Posted 10 April 2011 - 10:46 PM