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 diagnostic 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 as 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. I had a lot of infections as a kid and was sick a lot.
As a teen 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. They just shrugged their shoulders when I described how sick they made me and none ever referred me to an allergist, even after I showed them the hives I would get. I especially couldn’t take birth control or anti-inflammatories without getting really, really sick.
Early in my adult life I went to the doctors a lot. I had symptoms in nearly every system! My tests almost always came back “normal”, though, and I felt like I was crazy so I stopped seeing doctors for a long time. I just knew they thought I was exaggerating and I began to wonder if I was imagining all these symptoms myself.
How in the world could I really be so sick from head to toe with no known cause? Was I “thinking myself sick”??
It wasn’t until I was in my 40’s that things began to get a lot worse. My health took a complete nosedive in less than 3 years and I had to close my business. I couldn’t work at all anymore and could barely function. I was bedridden practically 24/7.
By the time I realized I had a systemic inflammatory/allergic issue going on that wasn’t going away, was getting far, FAR worse no matter what I tried to do to “fix” it and needed to be seriously evaluated by the right (?!) doctor, I was limping and using a cane off and on when I did get out of bed because my hip and ribs and gut hurt so badly. My allergies were worse than ever and I was drowning in mucus from head to toe.
I was also having a lot of other symptoms of MCAS like burning, itchy skin and dermatographia:
Plus swelling and hives that came up for seemingly no reason:
I didn’t connect my symptoms (yet) to my older brother who was struck down with a mystery disease in a similar way at about my age. His manifested as severe osteoporosis, COPD and dementia – all symptoms of mast cell disease. My three children also had symptoms that we didn’t realize pointed to mast cell dysfunction. Looking back now, I believe it runs through my maternal line as my mom had a lot of symptoms, too.
To make a long story short, by 2015 I began to suspect it may be “delayed food allergies” doing it to me. I thought it was my dairy intake causing me grief, 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 a bone marrow biopsy that showed my mast cells were expressing CD25. My inflammatory markers were high even though my tryptase was low. I had a GI scope that found evidence of GERD and diverticulosis and I was dx’d again with IBS.
I had a lesion biopsied that came back as being made up of a number of “elevated mast cells” but wasn’t an urticaria pigmentosa. I also had a punch biopsy on 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.
By the time I got my diagnosis I had 54/58 symptoms (I am using the symptom list here for reference, some symptoms weren’t listed or come and go etc. but these are my general numbers).
With mast cell targeting treatment I have been able to find almost complete remission for hours or even days at a time through strict trigger avoidance (aka staying home in my safe bubble) and by taking proper medications.
Most days I have less than 10 symptoms now (yay!!).
I am still incredibly sick though, just under the surface, but at least I have a diagnosis and treatment that finally relieves nearly all of my symptoms, even if it’s intermittent. My middle son has also been diagnosed with MCAS and is responding to treatment. There is no cure and we will need to practice strict trigger avoidance and have to be on medicines for the rest of our lives, which is fine.
The alternative is much, much worse.