Along with his very helpful book, which I’m reviewing (see my last post), Dr. Afrin also has a video that every patient and caregiver must watch.
The entire video is packed full of information, some of which is in the book and some isn’t (or I haven’t gotten to it yet). Either way, it’s something I encourage everyone with MCAS to watch all the way through at least fifty times.
Below I’ve transcribed a few of the question and answers from the end of the video, just to help get the word out (since Dr. Afrin himself challenged us to ‘do something’). I thought I had learned a lot this last year but Dr. Afrin is VERY knowledgeable when it comes to mast cell disease and some of his answers to listener’s questions surprised even me.
I’ve tried to transcribe them verbatim but I did condense some parts to make for easier reading. The time stamps for each one is at the beginning, in case you want to listen along:
1:23:00 – Is there a correlation between physical and emotional stress and mast cell activation?
Yes, there are direct mechanisms by which stress, both physical and psychological can directly lead to mast cell activation. Of course there are indirect methods of activation from stress as well.
1:23:40 – My daughter is being treated for MCAS. She is taking (names a handful of antihistamines). Even with all these antihistamines she still has burning, itching, flushing. Why?
This goes back to the complexity of the disease. Remember, the mast cell is putting out, or has the capacity to produce and release a huge array of mediators, histamine is just the beginning of the chaos — the molecular chaos — that mast cell disease can cause in the body.
While antihistamines are helpful to one degree or another in some patients, there are some patients in which antihistamines accomplish nothing. Instead it’s other drugs that are needed to help control their disease. In most patients with mast cell disease it’s not just antihistamines that attain control, usually it’s a combination of antihistamines together with other drugs to help control other aspects of mediator production and release beyond just histamine.
Again, this is an extraordinarily complex disease and I urge all of you to go easy on your doctors in your expectations as to how much they understand of this at present. This has not been taught, up to this point, it’s not in textbooks. There are relatively few journal articles discussing this. Most physicians, 99 plus percent of physicians, have never even heard of this. Yet. It will take time for this to get out there so just go easy on your doctors, they’re doing the best they can.
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.
1:28:17 – In your experience have there been patients with MCAS symptoms who could not be helped with treatment?
Actually, in my experience, there hasn’t been yet a patient I’ve treated in whom we have literally exhausted all available treatments. I have patients who, truth to tell, who are two, three, four years into the process and we have yet to find significant helpful treatment for them, but in those patients we have not yet exhausted all the available treatments to be tried in this disease.
1:29:02 – Are there genes other than kit that are associated with MCAS?
We don’t know that yet. That’s the focus of the research that I’m pursuing at my institution and I wouldn’t be surprised if others are pursuing that research at this point, too but we just don’t know that yet and we’re going to have to wait for the results of all these research projects.
1:29:29 – Can mast cell degranulation or unstable mast cells cause angioedema in the GI tract and can this lead to abdominal pain, distention, hives, etc.?
Could it be mistaken for irritable bowel syndrome instead of a co-morbid condition?
I think it’s important to note that in the patients who are ultimately found to have mast cell disease after accumulating a problem list of fifty seven other diagnoses, it’s not necessarily the case that any of those other diagnoses is wrong, those diagnoses may be precisely accurate diagnoses, the problem is that each of those other diagnoses only accounts for one particular subset or another of the total range of problems the patient is having.
Whereas in a patient with mast cell disease, it is common that mast cell disease can account for everything that’s going on. So with this particular question, mast cell disease could be seen as “underlying” or at a bare minimum, co-morbid with irritable bowel syndrome, and possibly underlying.
1:31:28 – Is fluctuating low hemoglobin common in MCAS? What about low B12 and low iron?
Mast cell patients can have, again mast cell disease doesn’t render one immune to these other problems which may or may not be consequential to the mast cell disease. Low hemoglobin (anemia) is a very common consequence of inflammation and inflammation is very common in mast cell disease so yes, as a result these problems can occur.
Those are just a few of the questions he answers so you really need to watch the whole video in order to see them all.
Plus, like I said, the entire presentation is just chock full of things every patient and caregiver needs to know. When you add in his book, Never Bet Against Occam, you have a treasure trove of wisdom and knowledge that only someone with his expertise and experience working with hundreds of patients with a rare disease such as MCAD can offer.
I am just so darn thankful for Dr. Afrin. Even though I am not a patient of his, when I’m reading or watching his stuff I almost feel like he’s my doctor because he knows so much about my disease and I can tell that he truly “gets it”. I can’t convey what a relief it is after years of getting the side-eye from doctors who didn’t “get it”!
Of course, like Dr. Afrin says, I have to go easy on them. It’s really not their fault. They just didn’t know and now it’s my job to educate my health care providers so they do know and can hopefully begin to recognize it early in their other patients.
I also feel an obligation to help others out there who may be suffering needlessly, just like I was, but I can’t do it alone. If you’ll share this and other posts & graphics on social media and help me bring #mastcelldiseaseawareness we can make a difference together, though!