“Congratulations, you have a disease! Or an explanation for what is going on, and meeting published peer-reviewed diagnostic criteria for a mast cell activation syndrome.” I never thought I’d hear these words. Today is the day that my MCAD was formally diagnosed by Dr. Lawrence Afrin, hematologist and MCAS expert in New York.
Every single one of my labs came back normal, both blood and urine. There were elevated von willebrand factor, which only speaks to inflammation in my system, which I already knew. Otherwise, nothing would’ve been able to get me the clinical diagnosis. And then, the motherload: My scope from 2015 was restained and the mast cells were more than 4 times the normal range for at least 2 tissue samples, which is the clinical requirement for a diagnosis. I want to add that after that scope, the GI declared histological remission for my crohn’s!
Pictured is the pathology report from the 2015 tissue samples, with Dr. Afrin’s words:
- Tissue sample one is the second part of the duodenum of the small intestines. Originally ‘Normal’, Afrin staining: up to 52 mast cells per high power field. Upper limit of normal is 20 (results more than double). Two mast cells seen lacks neoplasia “nothing suggestive of mastocytosis” abnormal based on the numbers, but consistent with mast cell activation.
- Tissue sample Two & Three, stomach and esophagus all normal. Didn’t even do the standing, but that’s okay. Because slide 4:
- Four – terminal ileum, the farthest up that the colonoscope can reach in the small intestines where it joins the large intestines. Original normal. More than 4x upper limit for normal, and not a single sign of mastocytosis.
- 6-7-8-9, did not do staining, but there are 2 biopsies that show substantial increases in mast cells “I’m looking for two pieces of evidence for the diagnosis”.
Congratulations, you have a disease!
What does this mean? Find an h1/h2 antihistamine protocol that works for you. If one drug triggers a flare, don’t give up. Ask your pharmacist to help you with formulations until you know which excipedent causes you to flare. on the bright side, prognosis is normal lifespan, except the quality of life can be chronically miserable until relief is obtained. As a final note, Dr. Afrin noted that 85% of MCAD patients do not have elevated tryptase levels, as that is only a marker for mastocytosis, a very rare variation of MCAD.
Facts:
- Children with mastocytosis have a tenfold autism prevalence. That single study has not replicated yet in MCAD because no pediatricians are aware of MCAS or recognize or diagnosis.
- Nearly 80% of patients with Ehlers Danlos Syndrome (EDS) have an MCAS comorbidity.
- 85% of MCAd patients do not have elevated tryptase levels, the only test allergist know to use today.
Henny Kupferstein 
Wonderful news that you finally got your official diagnosis! I have a question, though: where did the data “Nearly 80% of patients with Ehlers Danlos Syndrome (EDS) have an MCAS comorbidity” come from? Thanks in advance for your answer!
From Dr. Afrin, in conversation.
I read Dr Afrin’s book. And though I enjoyed it I didn’t like how he implied that treating MCAS would cure autism. Though I think he worded it more carefully than that.
There isn’t a single doctor here in Ireland that tests for MCAS. Really severely effected patients save up and go to London. I’m not in that category but I’m certain I have it. H1/H2 antihistamines help but you are right that which exact ones I take need to be tweaked at times.
Hopefully now you can get treatment that helps you. Xxx