Hello everyone,

I'm new here and so happy to have found this forum and something that finally makes sense of my experiences. I've been having an array of symptoms for a few years now, including:
upper back pain when I eat
general feeling of exhaustion, like I have the flu
fatigue after eating- sometimes I fall asleep for an hour or two
numbness in toes
headaches
joint pain
balance problems
low blood pressure/ lightheadedness upon standing
brain fog
short term memory problems
trouble concentrating
feeling of 'thick tongue' after eating
feeling of throat swelling or something caught in throat after eating
constipation
exercise intolerance
anxiety
swollen lymph nodes
intermittent blurry vision

Some of the things I've been tested for that have been ruled out: multiple sclerosis
lyme disease
lupus
rheumatoid arthritis
fibromyalgia
celiac disease
eosinophiliac esophagitus
food allergies

Some of the things that I have:
endometriosis
gastritis (h. pylori negative)
GERD
IBS
small intestine bacterial overgrowth
asthma
environmental allergies
BRCA positive (breast cancer gene)

Through keeping a food journal I've noticed that some of my triggers are salicylates and sulfites (and also stress). I actually first heard of mast cell disorders through a forum for salicylate sensitivity, and had a light bulb moment when I read more about them and started to see a connection. I do get some relief from the upper back pain by taking zyrtec. So far I've only taken one a day, and haven't added in zantac yet.

My family doctor had been terrible about taking me seriously- I'm pretty sure she just thinks I'm a hypochondriac- but I've been too tired to find a new doctor and switch. I'm hoping to find a local doctor who is familiar with mast cell disorders to see if they think I fit the bill. I don't have any rashes or skin symptoms, but the fact that the zyrtec lessons some of my symptoms makes it seem like a strong possibility. What do you guys think?

Hi Kim,

Thanks for your response and welcome! I see my family doctor tomorrow and have a list of labs I'd like for her to run, (including tryptase, chromagranin A, histamine, and prostaglandin D2), so hopefully I'll get some answers from those.

I have an appointment with my GI doctor next week, and I'm going to see if he will agree to have my recent biopsies rechecked with the tryptase, CD117, toluidine blue, CD25, and CD2 stains. Is there anything else I can have done or other tests to have run in the meantime while I'm trying to find a mast cell doc?

I live in Pittsburgh, and would love some recommendations for good docs close to me. I started a thread in the 'masto docs' section asking for help finding one. If I were able to, I would travel to one of the researchers, but I don't know that I'm up for that right now. Cleveland is about two hours from me, so if there's someone at the Cleveland Clinic that's good I could get myself there. I would love any recommendations!

Moxie, I FOUND IT! LOL

Here is what one of the researchers of mast cells, Dr Lawrence Afrin, told me could be tested:
Mast Cell disease usually cannot be seen with the standard (hematoxylin and eosin, or H&E) stain used for GI tract biopsies. Probably the most important stain to be done is CD117, but Giemsa, tryptase, and toluidine blue stains (and perhaps even CD25 and CD2 stains) might be helpful too. If the stains show mast cells are present, and if any areas are seen in which there are more than 20 mast cells per high power microscopic field, then that's abnormal (and the pathologist should go on at that point to send out the positive specimen for KIT-D816V mutation testing). I long ago lost count of the number of patients whose old GI biopsies I've had revisited in this manner to useful diagnostic effect. Your physicians, especially the pathologist, need to be aware that mast cells are highly "pleomorphic" (shape-changing) and can (and often do) misleadingly appear as lymphocytes, plasma cells, macrophages, histiocytes, or spindle cells on H&E staining.
Alternatively, you could have any of your physicians order a battery of mast cell mediator level (e.g., serum tryptase, serum chromogranin A, (CHILLED) plasma histamine, (CHILLED) plasma prostaglandin D2, (CHILLED) urinary N-methylhistamine (24 hour collection preferred over a random collection), (CHILLED) urinary prostaglandin D2, (CHILLED/STAT) plasma heparin) looking for evidence of the disease in the blood or urine, but that might quickly get more expensive than just doing one or more of the additional stains on the biopsies.

There you go! Hope it helps
Kim

Moxie, I can't answer your questions specifically. I DIDN'T have my biopsy's sent to a Mast Cell specialist (BUT I WISH I HAD). But the first step would be to contact one of them and discuss with that doctor your symptoms, what has been ruled out, what has been diagnosed, medications you take and so forth and to discuss that you have GI biopsies and your other stuff with the cysts and tubes and so forth. Ask if they could test your samples and all your other questions and go from there. You will be more confident in doing this with the results then if you stay locally and get tested. If you try locally and everything turns out normal then you will wonder if it was handled properly but it may be too late after that to use your biopsy's again for additional testing if they use them up.
So my thought is perhaps you can start by just contacting one of the mast cell authorities perhaps through email (which you could probably get from someone online here. I have Dr Afrin in South Carolina info. Discuss with them your symptoms and so forth and if they feel you may possibly have a mast cell issue or that it at least warrents looking into then perhaps they will be willing to do the testing that should be done through them and not locally. They will know which tests could be ok locally. How does that sound? If you are liking this idea so far, let me suggest another....WEEEE I'm on a roll here.....While you are working on communications with one of the authorities on this matter you could be checking with your local doctors informing them that you feel you may possibly have a mast cell issue and that you intend to contact a mast cell specialist and if they agree would said local doctor be willing to work with the specialist on testing and treating you. I would think at that point you will get, as for a response from your local doctor, either a straight up yes or they will question your idea/thoughts on the possibility that you have a mast cell problem. My thought is if they act disbelieving....move on to a different doctor! Don't wast your time with non-believers or doctors who insist they know better.
So what do you think?

Kim

I sent the information to you. Let me know if for some reason I goofed up sending it and you do not get it.

Kim

Hey Moxie!!   I used to live in Bethel Park!!!!  Small world!!!    I went up to Pittsburgh in 1978 to study at the Art Institute of Pittsburgh and stayed for another 10 years until I met my husband and moved to Brazil with him.   Love that city!!


Now, as to masto doctors in Pittsburgh, FORGET IT!!   The only kind of articles coming out of Pittsburgh doctors are case histories, which is typical.   You won't find anybody there who can really help you.    When I was preparing for my open heart surgery last year I had some well meaning friends who wanted to see if I could come back to PGH for surgery and they put me into contact with a surgeon at PITT.   That doctor flatly wrote me off and recommended I contact somebody at ALLEGHENY GENERAL!!!    IT WAS A JOKE!!!!    The high level researchers from Harvard and Cornell knew as well as I do that there was NO WAY for me to operate there!  I was better off here in Sao Paulo at the largest cardiac hospital in Latin America!!

So, sorry to tell you this, but you are not going to find any experts in masto in Pittsburgh.   However, you are also NOT going to find them at the Cleveland Clinic either!   We have people here who have not had good experiences with the CC.  It has an excellent reputation for heart and cancer patients but masto it does not!!!

Your very best bet is going up to Boston, however, without a decent doctor who can support you in Pgh and find some evidence of an MC disorder, the door to Boston won't open for you because you need a doctor referral.   In that case, you would be better off going down to see Dr. Afrin.  

Kim has done an EXCELLENT job of helping you and giving you advice that I really can't expound upon.   The only thing I can add is that what you are most needing right at this moment is ONE doctor who is on your side and supportive of looking further and who would be willing to work with you in considering an MC disorder.   Dr. Afrin is an excellent doctor and several of the patients here have been to see him.   If he finds positive evidence, then he can send you up to Boston.  Or, if you can get some basic testing, your own doctor can send you up to Boston.   The Boston doctors are THE major authorities in masto outside of the NIH, but the NIH can be pretty hard to get into.  Yet the Boston doctors can be very difficult to see due to their being overly taxed with patients.   This is why I would recommend going down to see Dr. Afrin.  

However, like I said, if you have a supportive doctor who is willing to do some testing, then any proven finding of MC activation will open the door to Boston and then it's your choice as to where you wish to go.  Either way, you are not making a mistake no matter which doctors you choose.


Like it or not, Moxie, a rare disease means you have very few doctors who know about it.  Many of us have no other choice but to travel to find our doctors.  I've had to travel up to 7 hours and my masto specialist is in Rio, a 2 hour drive from me, but even though she's so close, due to the fact that our gasoline costs us about $12 dollars a gallon, we don't go to Rio very often!! (yes I did write $12 DOLLARS A GALLON!!)

But if you write to Dr. Afin, you will find him very receptive and will gladly give you some advice as to what tests can be run and what to do.   If you have intestinal biopsies, they are the best tissues to find the MCs but if they haven't been run through the immunohistochemical testing for masto, the MCs won't be seen.   If you have a lot of intestinal issues, it would be worthwhile to return to your gastro and ask him for another round of biopsies all the way down the line and then have them properly stained and tested.  If you gastro is willing to speak with the masto authorities they can guide him.  

I hope this helps!   Sorry about the news about Pgh doctors!!  There seems to be perhaps ONE dermatologist who might be interesting to see, Dr. Melanie E Costa.   I found her on one article and she may be of a help.  But unless she has up to date MCAS information she´s not going to know about this new diagnosis.   But she may be a start.   Try also the Dermatology and Allergy, immunology department at PITT.   They would be the next best bet I think.


Lisa

Lisa, how's this for a small world- I went to the Art Institute too! (I graduated in 99). Pittsburgh is a great city...I've moved away a few times but always end up back here.

Thanks for your help with doctors. I emailed Dr. Afrin yesterday and he responded to me in twenty minutes (I couldn't believe that). I called his scheduler for an appt, (who was really nice and helpful), and have one on February. It's going to be an 11-12 hour drive from here (it's not in the budget to fly right now), so I'm not sure how that's going to work out, but I have to say I'm happy to finally have a glimmer of hope that I'm going to get this figured out!

In my email I gave him a list of my symptoms, things I'd been tested for, things that I've been diagnosed with, (similar to at the beginning of this thread) and asked if he thought it could be mast cell related. In his response he said I sounded pretty classic, but that testing would be needed to confirm or deny.

So now I need to work on finding a supportive doctor in my area. Like I said, my family doctor hasn't been very good so far, but I'm seeing her this afternoon and bringing along info on mast cell disorders, so hopefully she'll come around.

I've already had two endoscopies this year and one colonoscopy that couldn't be completed because of bowel tortuosity. I'm hoping that if needed, I'll just be able to have those biopsies sent to Dr. Afrin's lab instead of having to have another procedure. Fortunately, my GI doctor has been pretty good so far (he's young), so I think he'd be willing to work with Dr. Afrin for me.

I think we all need to get together and sign some petitions or something to get a mast cell specialist in every state so no one has to travel too far. How long do you think that will take?  

Thanks for your help Lisa!