If we have MCAS, our mast cells are trigger happy and degranulate too easily.  Do we all have a different combination of mediators that get released?

I suppose the answer is yes, because when we are tested, we have different results on our labs when the physicians measure some of the mediators in our blood.

I find this odd.  If a mast cell degranulates, why don't we all show similar mediators with similar consequences?  How can a mast cell selectively determine which mediators it allow out and which remain inside the cell?


This is all so confusing to me.

I second what Lynda said about patients having different mutations affecting mast cell regulation. So mast cell mediator release can vary per person and so can the locations in the body of the abnormal mast cells which also affects how MCAD will manifest.


(MC = mast cell)

Dr. Afrin:

"A large menagerie of mutations in MC regulatory elements has been found in MCAS patients; most patients appear to have multiple such mutations, with no clear patterns, or genotype-phenotype correlations, yet apparent. Such mutational heterogeneity likely drives the heterogeneity of aberrant MC mediator expression, in turn causing the extreme heterogeneity of clinical presentation. Different MCAS patients can present with polar opposite clinical aberrancies. All of the body's systems can be affected by MCAS."[1]


[1] https://www.novapublishers.com/catalog/product_info.php?products_id=42603

Hi Hope.

I agree...this aging process is not for sissies!!  I think that our MCAD seems to vary and our symptoms seem to migrate which almost feels like they are new or different.  So sometimes we feel we haven't made the progress we think we should.

I guess as much as we don't want to admit it, this disease is not curable and will always be a part of our day.  My goal is to do the best I can in keeping it controlled.  I have learned that it is easier to keep my mast cells controlled that to get them controlled!  I no longer hesitate to take the meds I need to shut down the symptoms I have so the reactions will stop.

As far as a geneticist, I was referred by my oncologist because of my breast cancer family history. It came out of a desire to see my own daughter get a mamogram at an earlier age.  When the most common mutations came back normal, my geneticist wasn't convinced there wasn't a hereditary component so he 'broadened' his search and did a full panel. So of course you know us MCAD people...we have to come up with the least common genetic mutation there is as far as cancer. And it just so happened to have a correlation to my MCAD.

I know the ultimate goal of some researchers is to come up with the mutations that directly affect mast cell regulation, but that testing is a ways off.  Won't it be great when anyone can walk into an office and get their whole exome/genome sequencing of their mast cells tested? That hopefully will lead to therapies that will be effective or ineffective or toxic for each of us!

I hope this find you doing better!  Take care...