Hi, everyone.

To be honest, I am not 100% sure if I have systemic mastocytosis, but I think I might.  I will share my story and then I have a few questions that I'd really, really appreciate if someone could answer because I cannot find the answers anywhere else.

My worst symptoms are:

-facial flushing, which I've actually had since I was in the first grade.
-a few food allergies
-a very finicky thyroid, which works fine sometimes and then other times will not.  Example: when I went 100% gluten free, my thyroid started working perfectly.  When I went on birth control (for endometriosis), my thyroid is back to not being so happy.
-pancytopenia (low level blood counts.  I've had a low white blood cell count and neutropenia since I was like 12 years old. Off and on, I have anemia as well as low platelets).  No ONE has been able to figure out the cause for this.  NO ONE.  Not even Johns Hopkins.  I've had this blood problem for over 16+ years!
-chronically low blood pressure, which I take fludrocortisone to try to raise, but it doesn't really help much.
-chronic tachycardia (racing pulse), which I've had since I was about 12 as well.
-allergic to CT scan dyes - causes me to break out in hives.

In 2003-2004ish something that looked like a mole on my back started itching and bleeding, so a dermatologist biopsied it and it came back as mastocytosis.  She never told me anything about systemic mastocytosis.  The only thing she told me was to stay away from morphine as it could cause an allergic reaction.

Fast forward to 2007, when I became extremely ill with an extreme amount of symptoms.  I have been diagnosed with so many different things.  The big one being lyme disease, though I've never had a fully positive test, though treatment for it did seem to help some.  Going gluten free helped my symptoms a TON.  Then I also found out I have Pernicious Anemia.  When I found out I had that I was hopeful it would help my pancytopenia because it can be a cause of that.  Well, that never helped, which was very saddening for me.

I should also mention I've had two bone marrow biopsies done because of my blood issues.  One in 2008 and then another in 2010.  Both were normal with the exception of being hypocellular.  Of course, none were checked for systemic mastocytosis, I'm pretty sure.

Last week I saw an immunologist and told him these things (he was not a masto specialist) and he tested my histamine and tryptaste blood levels which turned out to be normal.  And I had a urine histamine test but haven't gotten those results back yet.  He told me since my tryptase levels were normal, then I don't have mastocytosis.  Is this ALWAYS true?

I have an appointment in the beginning of August with a masto specialist.  I don't want to have another bone marrow biopsy done and I am hoping that somehow we can get my bone marrow slide from 2010 and maybe test for mastocytosis that way?

So my questions are:

1. Do you always have a high tryptase level with systemic mastocytosis?

2. Does anyone else have pancytopenia or blood levels affected with systemic mastocytosis?  From what I've read, it's not a good outlook for those with hematological disorders and mastocytosis?

3. Does this sound like it could be systemic mastocytosis?  With my being diagnosed with cutaneous mastocytosis in 2003-2004, I thought this could be a definite culprit for all of my problems now, though I am not really sure.

Thanks, everyone.  

Joan wrote on 07/23/12 at 17:29:53:

I looked up to see who Dr. Kirshenbaum is, and his website said his specialty is pediatric allergy and immunology with "interest in mast cell growth and development; role of mast cells in infections and mastocytosis."  He is not a recognized top expert in the study of mast cell disorders, and I didn't see on his website that he's trained with top experts.

My opinion is, if you're that close to Boston, it would be a better choice to see Dr. Akin or Dr. Castells at Brigham and Womens Hospital there.  Drs. Akin and Castells are the most knowledgeable experts in mast cell disorders, and they will be able to tell you if your symptoms and tests indicate mast cell disease, as well as give you a treatment plan.  They are willing to work with your doctor in your own city once you've been accepted as a patient.  With your medical history, MC disease is definitely a possibility.

Dr. Castells sees patients with either systemic mastocytosis or mast cell activation disorders.  Dr. Akin sees primarily patients with systemic mastocytosis.  They are also allergists/immunologists, and they work with doctors in other specialties who are also knowledgeable about mast cell problems.  

The range of "normal" on a tryptase test has changed over the years.  Some doctors feel anything >1 is abnormal.

There's a lot of information on this forum that will be helpful for you to learn about mast cell triggers (including CT contrast), medicines for controlling symptoms, meds that are more and less likely to cause problems in MC patients, how to pre-medicate for procedures and surgeries, symptoms, diet, etc.

In regards to having your bone marrow samples tested for mast cells, many labs keep biopsy samples for years.  The pathologist my doctor used keeps samples for 7 years.  So, you may be able to have your old samples tested, rather than having to get a new BMB. I would give a call to the doctor who did the BMB and ask them about getting the samples.  My doctor's office called the pathology lab and got all the info needed for someone else to request them.  I don't know if all labs are able to do the staining or familiar with interpreting the results.

It is true that By law labs have to keep specimens for a certain time frame. I don't know if that time frame changes from state to state but here in Alabama it is also 7 years.

disturbedme wrote on 07/26/12 at 08:09:56:


There are at least three of us that I know of from MD (Julie M. and Futurehope are the others), and all three of us have made the journey down to South Carolina to see Dr. Afrin.  I tried to get in to see Dr. Castells but they wouldn't give me an appointment.  I have a GP here in MD who is very willing to learn what she can and follow whatever Dr. Afrin suggests.  Wish I could recommend a local expert, but I don't know of any.  Ana posted about Dr. Mardiney in the "Doctors" section, but no one here has direct experience with him.  

I would say it is worth it to at least try one visit with someone local if you have reason to believe he can help you, but if it seems like a lost cause, don't kill yourself trying to get something out of them they can't give.  My GP suggested a GI doc and in the first visit she said she'd never heard of mastocytosis (forget MCAS), and that I probably just THINK I get a lot of gas, when it's most likely normal.  (My husband was sitting right there agreeing that it was a lot, not to mention my belly bloats up!)  Needless to say, I never went back.

I also thought it was interesting that birth control put your thyroid out of whack, because the symptoms that caused my initial diagnosis of Hashimoto's thyroiditis began shortly after my one and only attempt to take birth control pills.

I also can't keep my BP up...I take licorice root rather than Florinef, but it only does so much.  I don't have your pancytopenia problems, though....my blood trouble has been unexplainable low ferritin.  

Feel free to PM me with questions about specific doctors...I'm thinking we may have enough people to form a Maryland support group at this point!