Follow Up To T.h.: Mastocytosis

[Finally-45]

T.H. wrote on October 2013 - 08:31 PM regarding a recent diagnosis of Mast Cell Activation Disorder.  Interestingly, my symptoms are very similar.  I was recently diagnosed with mastocytosis.  All grains are my triggers.  I haven't posted in a while because I found that though I have Celiac, I knew I was reacting to more than just wheat, barley, and rye.  (I was initially fine when I first went gluten free, but then gradually had to let go of each grain, one-by-one.)  Not to mention having odd symptoms like itching (with no visible reaction), anaphylaxis, asthma, and other problems that seemed to join the list at will.

 

I'd like to give some encouragement and advice to fellow Celiacs who have mysterious symptoms beyond that of Celiac.  First, of all, realize that you can't compare yourself to others too much if the problem is mastocytosis, everyone is different.  Second, the low-histamine diet makes gluten-free look like a buffet.  Third, keep insisting on being tested if anything sounds familiar:

 

So... What are Mast Cell Diseases??? Mast cell diseases include mastocytosis, where the body produces too many mast cells, and mast cell activation syndrome (MCAS), where even the normal number of mast cells are too easily activated by a trigger to release their contents, called mediators. These mediators can cause a variety of unpredictable symptoms in both children and adults, including skin rashes, flushing, abdominal pain, bloating, nausea, vomiting, headache, bone pain and skeletal lesions, and anaphylaxis. Triggers can be heat, cold, stress (physical or emotional), perfumes or odors, medications, insect stings, and foods. These symptoms are treated with medications including antihistamines, mast cell stabilizers, and leukotriene inhibitors, while anaphylaxis is a medical emergency requiring epinephrine. Mastocytosis can affect skin and internal organs such as the bone marrow, gastrointestinal tract, liver, and spleen. Most patients with mastocytosis have cutaneous (skin) or indolent (benign) systemic forms, but aggressive disease can occur, which may require chemotherapy. A diagnosis of mastocytosis is confirmed by a bone marrow or skin biopsy. MCAS patients do not fulfill all criteria for mastocytosis but exhibit symptoms, may or may not have increased measurable mast cell mediators (commonly tryptase, histamine or its metabolites) during or shortly after an attack and do respond to the same medications that patients with mastocytosis do. - See more at: Open Original Shared Link

[T.H.]

Congratulations on getting diagnosed. Such a relief to at least have some better handle on where to go from here to stay healthy, yeah? Have the doctors and you had any luck on feeling better since you were diagnosed?

 

For anyone else reading this, sometimes the MCAD symptom information can be a bit harder to find than the mastocytosis symptom information (MCAD may not go into anaphylaxis as often, or sometimes ever). So to help with that, this is the most recent diagnostic guidelines for MCAD, with a chart in the middle of the pdf that lists symptoms.

Open Original Shared Link

 

 

 

 

 

[dilettantesteph]

How were you diagnosed?

[Finally-45]

I was diagnosed through the usual tryptase blood, urine, and mast cell count in a skin biopsy, but I'm still in the early stages of exploration and treatment--a boatload of other procedures still to come because my symptoms are frequent and relentless.  After getting through the initial shock and pity party, I simply feel better just telling others in the Celiac community about it.  The limited food options is depressing, not to mention many lifestyle changes.  Mastocytosis patients have to avoid feeling isolated, so here I am.

 

I've read SO many times about people feeling glutened when they shouldn't have, or being convinced that corn is a problem too, that I know it will help someone to hear about mastocytosis--particularly people who were diagnosed late.  Every now and then there is research or a debate on whether other foods need to be added to the Celiac avoidance list, such as quinoa, corn, oats, and so on.  I've been part of the debate because the GI symptoms from mastocytosis feel identical to the Celiac GI symptoms, so it's very easy to confuse them.  The joint pain is similar and so is the brain fog. The difference for me is that I began to have a LOT more than just GI symptoms.  Anyway, I can finally say the others were right, Celiac is limited to wheat, barley, and rye.  I'm convinced that Celiacs who repeatedly have similar reactions to other foods just have something else.  The question is: What's the something else?

 

If the something else is mastocytosis, be prepared for the medical community to know less than you would expect them to know because it is a rare condition.  Also, it won't just pop up on a routine test, even a colonoscopy.  The stain for a biopsy is specific to mastocytosis, so that means they had to have been looking for mastocytosis in the first place.  Also, other routine tests, including food allergy tests, may be absolutely normal.  People with mastocytosis often look just fine, maybe even healthy, fit, and youthful.  Meanwhile, they're privately battling one odd symptom after another.

 

I should mention here that one common symptom I don't have is flushing and redness, and I don't have the skin reactions, making it even less likely to have gotten diagnosed at a young age.  I don't have the Celiac skin-related symptoms either.  But name any other symptom and I bet I've had it.

 

One good thing I learned this week is that the Mastocytosis Society actually tells medical professionals to BELIEVE anything a mastocytosis patient says, no matter how farfetched it sounds.  That's a relief.

 

Hopefully someone is helped by this information. 

[Joe0123]

I am suspecting I may have MCAD.  I had a bone marrow biopsy done in January and the doctors said my mast cells looked normal (although at the time I had quite low platelets, WBC and RBC) so I guess that would probably rule out mastocytosis.  But I haven't had tryptase tested or anything else like that.  I'm not sure the allergist I'm seeing knows much about it :/ the hematologist hasn't been much help either.  I have improved on the low histamine diet.  I encourage everyone who thinks they may suffer from some sort of mast cell disease to look into that.  I am also trying to find a medication, either an antihistamine or a mast cell stabilizer, to help deal with symptoms.

[Finally-45]

TH may want to comment or start another topic, but be sure to do the 24hr urine tryptase test.  I believe MCAD patients commonly will not test positive for mastocytosis, but will have signs of it, such as having high tryptase levels.  The only difference between the 2 is that mastocytosis shows the patient has too many mast cells (somewhere, and not necessarily in one place), but the MCAD patients have a normal mast cell count (at least in the locations where checked), but the mast cells they do have are too easily activated.  The high tryptase indicates they were activated.

[T.H.]

I believe MCAD patients commonly will not test positive for mastocytosis, but will have signs of it, such as having high tryptase levels.  The only difference between the 2 is that mastocytosis shows the patient has too many mast cells (somewhere, and not necessarily in one place), but the MCAD patients have a normal mast cell count (at least in the locations where checked), but the mast cells they do have are too easily activated.  The high tryptase indicates they were activated.

 

I'd second taking a 24 hour tryptase test, yeah.  I'd add a 24 hour urine test for prostaglandins and histamine levels, too - anyone getting this would really want to look up how to keep it cold, though, and how the lab is supposed to as well, and make sure the lab understands this. There's information on the web.  It's a rare enough test that many times, the lab will think they should treat it like OTHER 24 hour urine tests, which don't need to be kept as cold quite as rigorously.  I've known a number of people who had the test ruined because of this. 

 

MCAD folks will test negative for mastocytosis, yup. So the stains won't show any extra mast cells, because as you said, Finally, there aren't any extra cells to notice. However, MCAD folks often have normal tryptase levels but other markers elevated, like histamine and prostaglandins (on the 24 hour urine test).  That was my situation, actually. I can't recall why the elevated tryptase is more common with mastocytosis, though. 

 

Getting diagnosed with MCAD, it reminds me a lot of getting diagnosed with celiac disease, in some ways. I had so many 'oh, that finally makes sense now' moments, you know?

 

Although for me, I found that I have to be just as careful about gluten as I was before I was diagnosed. :-(  While sensitive, I don't think that I react to quite as low a level as I once speculated but if I get glutened at all, even slightly, my reaction to gluten seems to set off my MCAD and I am really, really sick for months afterward. So I take no chances of accidental gluten contamination; it's worth it to not lose half a year every time it happens. :-/

 

That was a bit disappointing, honestly.  I was kind of hoping that maybe after diagnosis I'd be better able to tolerate more foods and do more, but it's been more a case of eating pretty much like I was, only I'm better able to understand why some of my previous choices were keeping me healthier. But having that understanding is at least worth quite a bit, really.

[dilettantesteph]

I'm sorry that it didn't make you less sensitive, TH.  So many of us are trying to find a way to make that happen.