Ask The NY Mast Cell Activation Syndrome (MCAS) Specialists
I had melanoma that sat on my back (misdiagnosed as benign initially) for three years. I feel my Mast Cell disease was likely triggered by this and low vitamin D when I started avoiding the sun and using sunblock due to fear of melanoma reoccurrence. Is there any research showing a relationship with melanoma and vitamin D3 deficiency?
Although mast cell disease sometimes develops in reaction to (i.e., secondary to) other problems (including cancers of a wide variety of sorts), there are published preliminary research data strongly suggesting the disease is primary in most patients who have it, and if that truly is the case, then it’s more likely that your mast cell disease was present before your melanoma emerged, though it could easily be the case that the melanoma triggered the mast cell disease to escalate from a previously clinically unnoticeable level to a new, heightened, clinically significant level.
There are no studies (that I’m aware of, anyway) indicating that mast cell disease can be initiated by vitamin D deficiency, though there are a few studies (so far just in cell and animal models in the laboratory, not yet in humans) suggesting that when there is insufficient engagement by vitamin D by the vitamin D receptors on the surfaces of mast cells, there is increased production and release of certain inflammatory mediators by the mast cell, and, vice versa, when there is adequate engagement by vitamin D with the vitamin D receptors on the surfaces of mast cells, there is a decrease in production and release of certain inflammatory mediators by the mast cell. Much more research is needed to determine whether these effects are also present in mast cells in the human body.
Finally, as to your question regarding the relationship(s) between vitamin D and melanoma, yes, there has been extensive research on this topic, and the nature and extent of those relationships remain quite unclear. In general, vitamin D deficiency is thought to increase risk for many cancers, including melanoma, and therefore resolving a vitamin D deficiency likely would help reduce risk for many cancers, again including melanoma, but the full story is likely to be far more complicated and nuanced than that. Two of the great many papers about this subject in the peer-reviewed medical literature are freely available at https://febs.onlinelibrary.wiley.com/doi/full/10.1016/j.molonc.2011.01.007 and https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157967/.
I am beginning to wonder if my mast cell disease is related to the Telangiectasias I have developed. They are not small dots like seen in TMEP-but rather large mats on back of base of neck up back of head in multiple patches. However, in reactions, my chest turns bright red with blanching dots (not raised, not itchy). I also have a very few blanching dots on my breast. Can TMEP present with larger mats of telectangasia (sp) vs small dots? How would it be confirmed? Biopsy confirmed telectangasia May on neck/head by Derm, but did not test for mast cells as mast cell disease not diagnosed yet.
TMEP can present a highly variable assortment of lesions in the skin. (Although this resource certainly isn’t as good as a dermatology textbook, a search at images.google.com for “TMEP” nevertheless will give you a decent sense of the variability of TMEP’s presentation in the skin.) As with any other form of mastocytosis, definitive diagnosis requires tissue biopsy.
Many of the tests needed to identify mast cell disease in a tissue biopsy can still be performed even years after the biopsy was originally taken. There simply needs to be a request by the dermatologist (or other doctor) to the pathologist who still has the specimens to perform the additional special testing needed to look for evidence of mast cell disease. And, of course, the pathologist needs to be *willing* to do that extra work, too, but even if he/she is not willing, the simple workaround is to obtain the old specimens (which the pathologist cannot refuse to provide) and take them to another pathologist.
One needs to be understanding of pathologists not willing to re-examine old specimens. Here in the United States, the rules that govern compensation of pathologists and their laboratories for the work they do generally provide compensation for any examinations the pathologist performs within two years of the original date on which the tissue came into the pathologist’s possession – and provide no compensation whatsoever (to either the pathologist or the laboratory) for any examinations performed beyond that two-year point. Thus, it’s easy to understand how some pathologists might not be willing to perform the expensive but uncompensated work to re-examine biopsies they originally examined more than two years ago. The workaround, though, is obvious: send those specimens to a new pathologist, who then will be compensated for all the work he/she does on those specimens for the next two years after initially coming into possession of those specimens. (To be clear, I can’t defend such an inane (insane?) system; I can only mention its existence as a reason to not get upset with pathologists who refuse to re-examine biopsies they initially saw years ago.)
I too have cranial pressure/pressure in ears and bad headaches, especially on the back of my head towards the top. I can now feel it where my skull bones fused (gaps). All of this after MRI with contrast last June. Dr’s keep pointing to that “normal mri” though all extreme symptoms occurred after it. How else can inflammation in the brain be visualized, or how long is recommended between mri? I was not premeditated at first one-was before mast cell disease diagnosed, but became very sick after that one.
First of all, I presume by “premeditated” that you actually meant “premedicated.” As is the case with just about any exposure in the right MCAS patient, radiographic contrast (whether for MRI, CT, or any other purpose) can be a trigger of either a temporary flaring of mast cell activation or, much less commonly, even a permanent escalation of mast cell activation.
Visualizing inflammation in the brain is somewhat challenging. This can be done by standard CT and MRI scanning, but these technologies can miss low levels or tiny spots of inflammation. Standard PET scanning, too, sometimes can see inflammation in the brain, but usually it needs to be a fairly extensive amount of inflammation to be visualized by this technology. SPECT imaging, too, can sometimes visualize brain inflammation. There have been many studies in the past decade looking at new tweaks of all of these old technologies which may improve their ability to detect brain inflammation, but few of these techniques have proven so successful as to be adopted into regular clinical use.
Sometimes a better way to reveal inflammation in the brain is to examine the cerebrospinal fluid (CSF), requiring a lumbar puncture. There are several tests which can be done on CSF to look for signs of inflammation in the brain.
Local doctors leave me to fend for myself, like many others here. How do we know when/how to push for more testing?
It’s your health and your life, and you (and your insurer) are paying for the health care you get, so if you’re not getting the health care you think you should be getting from your present providers, then it seems reasonable to me to politely request more attention to the things you think need attention, and if a polite request doesn’t get the action you’re seeking, then it seems reasonable as the next step to find a different provider who will provide a more substantive response to your request. What generally doesn’t help is to impolitely request/insist on specific interventions. A doctor usually is willing to do that which he/she thinks – based on his/her training and experience – is reasonable. Most doctors have no training or experience in mast cell disease, so when patients ask for diagnostic testing, let alone prescription of therapeutic interventions, for such a problem, the doctor is bewildered, has no idea whether the request is reasonable, doesn’t have time to investigate whether the request is reasonable, and thus has a hard time justifying such tests or treatments (let alone taking the time to figure out *how* to properly order such tests and safely prescribe/manage such treatments), regardless of how much the patient presses. A polite request for more attention to the matter perhaps can be accompanied by copies of a paper or two from the medical literature supporting the request, but fundamentally, if such a request doesn’t get action, then further angry/discourteous requests are even less likely to get action, and even if they do get action, at that point your relationship with the doctor has been poisoned and it is difficult to see how you will get good, considerate, empathetic care from that doctor ever again in the future. It seems better to just recognize/acknowledge when a given professional is not going to be able to help and then put your energies into finding another professional who will be willing to at least *try* to help.
What can we do socially and politically to gain acknowledgment, support, and funding for MCAS research?
This is a simple, great question that’s awfully difficult to answer meaningfully. Humans are quirky beasts, and it’s difficult to predict what will spark someone’s interest in a given area. In general, people seem most inclined to pay attention to issues which affect their loved ones, so perhaps it might be the case that as you learn of people suffering mysterious illness which *might* be MCAS, and if these people have connections to “movers and shakers,” then maybe bringing MCAS as a reasonable diagnostic consideration to the attention of those patients, and then allowing time to take its course, with the movers and shakers ultimately also coming to be aware of it, might yield meaningful moving and shaking.
Of course, there’s never anything wrong, either, with old-fashioned stumping, i.e., an e-mail or letter-writing campaign to a legislator who can influence funding (especially a legislator with a family member or close acquaintance unfortunately suffering the disease), but it has to be acknowledged that such campaigns usually are effective only when done en masse, with a great many people writing such letters.
There are many patient support societies, too, operating in areas potentially intersecting MCAS (e.g., chronic fatigue, fibromyalgia, Ehlers Danlos, dysautonomia, etc.), so it’s relatively easy to picture a scenario where a prominent member of such a society comes to be interested in what connection her disease might have with MCAS and thereby starts encouraging her society to support research and education in this area. It would not take much money to do a small pilot study simply defining what portion of a population with disease “X” (e.g., chronic fatigue syndrome) bears detectable MCAS – and a bit more money to look for specific mutations which might be recurrently found in the mast cells in those patients – thereby providing preliminary data/reason for other organizations (e.g., NIH) to begin supporting more detailed research in that area.
Some medical societies actively look for interesting presentations to put on the agenda for their meetings, so perhaps it would be a possibility for a formerly mysteriously ill patient who then is found to have MCAS and improves with treatment to partner with her physician(s) and propose a presentation to the groups to which the physician (or the patient) belongs.
Dr. Dempsey and I certainly are happy to speak and educate on the subject whenever invited/asked (we have given many talks at various forums locally, nationally, and internationally; we have hosted in-office observational training sessions, typically lasting anywhere from a day to a week, for medical students, residents, fellows, and even attending physicians; and we have led training retreats). We also are pursuing our own research projects as we are able to do so, and we are always happy to consider collaborating with those interested in pursuing other research projects in this area.
No doubt there are many, many other avenues, too, toward boosting both awareness and, ultimately, investment in MCAS care, research, and education. It’s hard to see how courteous application of creativity can fail to spark more interest in this disease which increasingly seems to be very common and likely underlying a great many diseases and conditions of mysterious origin. Nevertheless, it can’t be forgotten or ignored that MCAS is a complex beast which requires a lot of time and effort on anyone’s part to gain even a rudimentary understanding, so it likely is going to take a long time before it is widely recognized and generates widespread, sustained interest. Rather than any single effort “going viral,” it is more likely that efforts on many fronts over much time will collectively bring the attention desired. As they say, patience is a virtue.
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If you would like to see a NY Mast Cell Activation Disorder specialist, Dr. Lawrence Afrin is now seeing patients in a private practice setting at our office in Armonk, NY. To make an appointment with Dr. Afrin, please call the office or contact us here