I’ve written about this subject before but it is one of the most frequently asked questions I get from readers so I wanted to revisit the testing and diagnostic aspect of this incredibly complex disease.
Many patients suspected of suffering with mast cell disorders are unsure or even afraid of the bone marrow biopsy so I will share my own experience (again) and, more importantly, I will share Dr. Afrin’s words on the subject (again) because I think it’s important to take his experience as a physician who has treated hundreds of mast cell patients into consideration before deciding with your doctor whether or not a bone marrow biopsy is warranted.
In my case I have MCAS and I had two BMB’s. One here locally at my cancer clinic and one down at the University of Utah’s mast cell disease specialists. The anxiety leading up to both of them was pretty brutal and the procedure itself is not comfortable at all and was quite painful for brief moments. But the worst part for me personally was the week or two afterwards. I degranulated horribly and was really, really sick after both BMB’s.
I honestly felt like the bone marrow biopsy made my disease progress really fast afterward, too!
I’m not alone, either. In fact, in the Thousand Faces of Mastocytosis: Mistaken Medical Diagnoses, Patient Suffering & Gender Implications article I linked to a few days ago, they mention this:
Additionally, it is believed by some patients that the bone marrow biopsy can worsen the disorder. As well, they believe it is pointless to perform a bone marrow biopsy when the patient is not symptomatic. These differing thoughts versus experience represent the dilemmas of diagnosing Mastocytosis today. In the meantime, patients need to be treated on the basis of their symptoms, to alleviate their suffering and hopefully slow down the disease progression, whether a diagnosis exists or not.
I’m not sure if it was the procedure itself or the stress and trauma around it, but that’s my experience. My bone marrow biopsy did show my mast cell expressing CD25, which is one of the minor criteria for meeting mastocytosis, so for that I am thankful but I wouldn’t want to go through it again.
Dr. Afrin performed BMB’s on his first hundred MCAS patients but I’m not sure he would have ordered either BMB for me at all now after listening to his response to a question about it which I transcribed from the video you can watch here:
1:25:40 – What are your indications for recommending a bone marrow biopsy?
I actually did bone marrows in my first hundred MCAS patients and found no increased mast cells in any of them and only found molecular level evidence of disease in two of them. My approach is if the tryptase is persistently over 20 ng/mL OR if the pattern of presentation is much more consistent with what we expect in mastocytosis rather than MCAS then I am quick to do not just one BMB but two BMB’s since we know that one BMB will probably miss mastocytosis about 1/6 of the time.
What is the pattern that reflects mastocytosis?
Mastocytosis most commonly abruptly presents in middle or older age. Whereas in MCAS, patients can commonly trace symptoms reflective of mast cell activation back to at least adolescence, not uncommonly even back to childhood and occasionally even infancy.
So it’s a persistently high tryptase level along with the pattern of presentation that would lead me to recommend a BMB.
Of course the other consideration is the fact that mast cell disease increases the risk for malignancy of all types, especially hematological malignancies, so if there is any hint in the patient that a hematological malignancy might be present, then absolutely a BMB needs to be done. But fortunately, preciously few patients who present suggestive of MCAS also have findings of hematological malignancy.
Again, I thought this was pretty important to share. In my case, we needed to rule out mastocystosis because I did have some indications of it and I am glad I had mine done because it showed the CD25, which can be seen in MMAS (monoclonal mast cell activation syndrome). If nothing else, it proves there is, indeed, something wrong with my mast cells themselves.
Still, I wouldn’t want to go through the trauma ever again. It was AWFUL. As always, this isn’t medical advice, just me sharing my own journey and what I learn along the way. Hopefully it helps someone else.
Good luck and remember, we are in this mast cell craziness together!