Mastocytosis can be somewhat relatively easy to find on a clinical test, especially when they know what they are looking for, but mast cell activation syndrome poses a real diagmostic problem due to its nature, according to the experts:
The condition can also be difficult to diagnose, especially since many of the numerous symptoms may be considered “vague”. Patients often see many different specialties due to the inherent multisystem nature of the condition, and do not get diagnosed until a holistic view is taken by a diagnostician
I became sick shortly after birth and spent my early years going from specialist to specialist looking for answers to why I had severe anemia, digestive problems and a seizure disorder. As I grew older my symptoms changed, but I was always sick with inflammatory and allergic symptoms, on some level, my entire life.
Over the years I was diagnosed with everything from endometriosis to IBS to gingivitis but none of my doctors ever connected it to one root cause. They also didn’t seem concerned that I was “allergic” to almost every prescription and OTC medicine I tried over the years. They just shrugged their shoulders.
My tests almost always came back “normal” and I felt like I was crazy so I stopped seeing doctors for a long time. I knew they thought I was exaggerating or straight up making things up, and I began to wonder if I was imagining all these symptoms myself.
I sought out psychiatric help but it didn’t help. Like everything else I tried to do to “fix” me, it backfired and the medicines made me sick(er).
It wasn’t until I was in my 40’s that things began to get much, much worse. I had raised my kids up and into young adulthood and opened an in-home daycare. We used bleach a lot and there was a lot of happy stress. My health took a complete nosedive in less than 3 years.
By the time I realized I had a systemic inflammatory/allergic issue going on that wasn’t going away, was getting worse no matter what I tried to do to “fix” it and needed to be evaluated by a doctor, I was limping and using a cane off and on because my hip and ribs hurt so badly. I was also having a lot of other symptoms of MCAS.
I didn’t connect my symptoms (yet) to my brother who was struck down in a similar way at about my age. By the time I made an appointment with my immunologist he was already bedridden with severe osteoporosis, COPD and a “mystery immune system disease” that no one seemed to be able to figure out. He went from healthy, or looking healthy, to severely impaired so quickly we thought he had AIDS (he doesn’t).
To make a long story short, by 2015 I began to suspect it may be “delayed food allergies” doing it to me, perhaps combined with a ‘leaky gut’ that needed fixed and that’s when I made the appointment.
I was lucky that I found an immunologist who recognized mast cell activation disease early and had me diagnosed within a short time.
I had told him I would have reactions from head-to-toe, both allergic and inflammatory, a few hours after I ate dairy, soy and corn. Those were obvious triggers I had been able to identify for what I was calling at the time “food allergy flares”.
I had a list of almost sixty symptoms that I fully believed were linked to my food allergies. Many of them line up perfectly with the mast cell disease symptom list, which is pretty amazing.
It was only after I realized what was happening that I began sussing out other food (and non-edible) triggers, and I didn’t realize at the time just how sick I was and just how many diverse triggers I actually had including chemicals, stress, sunlight, humidity and so many other things.
It was such a tangled web of triggers, it was nearly impossible to sort them all out and I still struggle with trying to identify them to this day.
For a while I suspected these food allergy proteins I had isolated as triggers were in all the pills I took over the years that gave me hives and made me itch whenever I was put on a prescription. It made sense since I was “allergic” to dairy, soy and corn, which are in everything, so I basically wanted confirmation from the immunologist that I was right.
I didn’t know about mast cell disease yet.
I told him I had also been getting hives my entire life for no apparent reason but they came up really bad after using estrogen cream. I thought it was the soy in the cream, which made my theory about food allergies seem even more plausible!
Obviously I am not a doctor (haha).
I also wanted to ask him about the wasp sting reactions I’d had in 2014/2015. I had never been stung in my life and then was stung three times in less than a year’s span (thanks, universe!). Each reaction was worse than the last. I sure didn’t know this was all signs of mast cell disease.
By the time I saw him I was a mess. I was more sick than I’d been my entire life and I was getting worse by the day it seemed. My hair had been falling out, my weight was never healthy (I was always underweight), I had huge black shiners under my eyes, my gut was killing me constantly, etc. It was BAD.
He listened very intently to my laundry list of symptoms and sent me home with two epipens and instructions to use them. He went ahead and ordered food allergy testing and did a lung function test that showed I have reduced lung function.
The food allergy tests came back negative but later that day three of them swelled and itched really bad. They did it again the next day.
He ordered a tryptase test but it came back normal. I was exhibiting a lot of symptoms that pointed towards the possibility of mastocytosis, so next was the first bone marrow biopsy. It came back with a hit on the CD25, although it was minor, but it did show up which sent me into a tailspin.
All I could think about after that was the flat, discolored and intensely itchy patch on my labia, of all places, that flared up every time I flared from head to toe with mast cell degranulation symptoms (again, thanks, universe!).
I just knew it was a urticaria pigmentosa. I knew I was on my way to being diagnosed with systemic mastocytosis and I lost it. I literally went downhill by about a thousand percent over the next several days and weeks, struggling with intense joint and bone pain, pins and needles, hives, bleeding gums, you name it, it hit me.
I also found myself at the neurologist during all this because I was now having full fainting episodes and seizures again.
At the same time, I remembered my estranged half-brother had been really sick with a mystery disease that had left him bedridden in his early 40’s with osteoporosis and COPD, among other things — all symptoms of mast cell disease!
I went to the gastroenterologist, too, around this time because my gut was on fire and I was passing tons of mucus after going on the elimination diet. He tested me for celiac disease (NOPE!) and later he also referred me down to the University of Utah for a scope on my intestines to look for mast cell disease. They found evidence for GERD and also a couple of diverticuli in my colon, which explains a lot of the stabbing pain when I get inflamed. Still no sign of mast cell disease, though, but that doesn’t mean much for MCAS. It’s not always found on the tryptase or even mast cell cluster tests.
My inflammation always shows up on blood tests, though.
While I waited to go down to the University of Utah to have both the 2nd BMB and the GI scope done at the same time, my next stop was the gynecologist to have my regular checkup. She listened to my description of mastocytosis and knew I was being worked up for it and offered to biopsy my “permanent itchy hive patch” as I called it (before I knew what a urticaria pigmentosa even was) and I said YES PLEASE!
Unbelievably, the tests came back NORMAL for that, too, BUT… it also said that the lesion was made up of “elevated mast cells” (?!) and she said that it was unusual and I needed to do a follow up with a dermatologist on it or maybe my mast cell disease specialist?
I hadn’t wanted to let the dermatologist guy do a punch biopsy on my “not a UP” when I had seen him a few weeks earlier, but did let him punch biopsy a ringworm shaped lesion on my thigh I’d had for a while, which turned out to be a granuloma annulare, just as I suspected.
My first one had appeared and then disappeared a few months before my diagnosis. I would later find evidence that the tumor necrosis factor my mast cells are squirting out is the very same mediator that creates these granuloma annulare.
My first one went away when I removed my food triggers and started treatment. The second one popped up a few months later but I also noticed it went away completely when I went on the mast cell medicines and came back when I flared or missed a dose, which is confirmation enough for me that they are connected.
At the same time, the doctors all began to notice my flushing and dermatographia, which I had always had but noticed was getting worse, too:
These pictures were taken on a day when I was flaring somewhat but heavily medicated (I “wrote” HI with my fingertip) so they don’t show the full extent of it. When I’m not medicated they turn into raised welts and itch and they burn really bad for ten or twenty minutes so I try not to scratch because it HURTS.
I also get a lot of instant swelling, which I was getting this morning when I awoke, along with the dermatographia wherever I scratched:
I was always underweight and on the low end of the BMI so the weight really shows on me. I will gain upwards of six to eight pounds of swelling in a short time and lose it really quickly, too., when the degranulation event is over.
Along with the red welts that burn when I even just lightly scratch my skin, like in this photo, I get regular hives (mostly on my torso) pretty easily, too, which many of my doctors saw over the years in response to all sorts of medicines.
From Wellbutrin to birth control to Naproxen, I would break out in hives and have to stop taking it within a few days or even up to a couple of weeks in. I even tried aspirin and Singular with the same result recently.
So far that’s all the testing I’ve had done. I had 54/58 symptoms last year (I am using the symptom list on the Mastocytosis Society webpage for reference, some symptoms weren’t listed or come and go etc. but these are my general numbers). I have been able to find almost complete remission for hours or even days at a time through strict trigger avoidance (aka staying home) and proper medications.
I am still incredibly sick though, just under the surface of these medicines but at least I have a diagnosis and treatment that finally relieves nearly all of my symptoms, even if it’s intermittent.