Mast Cell Activation Disorder

[Darlene]

Do you see a cardiologist or allergist for mast cell disease? I was diagnosed with POTS in 2005. And have always wondered what caused it. I am not sure if this is mast cell related, but some of my symptoms are itching all over, facial flushing, and having attacks after eating foods with msg's.

[HopeSprings]

To test for Mast Cell Activation Disorder they would do a urine methylhistamine test. I had a cardiologist check for this. He gave me the prescription, I got the container to provide the urine sample, waited for a flush, then did a 24? hour (i forget if it was 24 or less hours) urine collection then brought the specimen to a lab - I think it was Quest Diagnostics. Unfortunately this lab did not do Methylhistamine testing, only Histamine. My Dr. said that was ok. I don't understand why he said it was ok, because it really needed to be METHYLhistamine. I think the histamine one is done for Mastocytosis --not MCAD. Anyway my results were negative. I can't find the article now, but somewhere in the literature it describes how the test should be given. I think it would be difficult to find a Doctor who knows about this. I can never seem to find a Doctor who knows anything about these rare conditions and most think I'm nuts when I bring them up. I guess call around, do a little internet searching and see if you can come up with someone who might have some knowledge of this in your area.

[Sarah4444]

This is such an important question and I am tackling it myself right now. If you have high tryptase you are likely to have more luck with "regular" mast cell doctors - usually immunologists/allergists, hematologists, and dermatologists for those with skin involvement. However you have to see a doctor who is really familiar with mastocytosis, not one who just thinks s/he is. If your tryptase is low, you really need one of the mastocytosis experts, like Dr. Castells or Dr. Afrin. They understand MCAD (aka MCAS)and can order and perform the testing properly. For POTS/MCAD the group at Vanderbilt perform a four hour collection of urine after a severe flushing episode to look at methylhistamine levels (see the article called "Hyperadrenergic POTS in Mast Cell Activation Disorder"). Dr. Castells recommended a 24 hour methlyhistamine and PGD2 urine test. But the tests, along with any skin biopsies all have to be performed in particular ways or they will easily produce false negative results. The urine has to be chilled and handled according to a particular protocol, and for the skin and bone marrow biopsies for mast cell disease there are particular staining techniques - you also need a pathologist who knows what s/he is looking for, even if all the other procedures are done right.

I have a dermatologist up here who is familiar with Cutaneous Mastocytosis but not MCAD. It's almost worse to have a doctor who is close but not right on, because they will do preliminary tests for tryptase but then if it's low, conclude inaccurately that you don't have MCAD. Then you have to bring in all kinds of research to prove otherwise, and doctors just LOVE that. Luckily my doc is nice and willing to put up with me, but I spoke with Dr. Castells this week and she said I really need to be seen at a specialized centre like hers in Boston, so we are going to try to make that work - that will be a fun health insurance adventure.