kimtg68
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I wanted to post my experience and thoughts about deciding which doctor I will go with and then how helpful (or not) the doctor I decide to go with is so others faced with this choice can possible use my experience to help them decide.
I started by emailing each, Dr Schwartz in Richmond, VA and Dr Afrin in Charleston, SC. Within 24 hours I received responses from both doctors. My email to them was identical listing my symptoms, what I've been tested for and ruled out as well as what I have been diagnosed with.
Dr Schwartz responded with: "Have you had tryptase levels measured in samples of serum collected at baseline and shortly after an acute systemic event? If not, I would recommend this be done to look for mast cell involvement in your condition prior to us deciding whether it would be fruitful for you to see me."
Dr Afrin responded with: "I'm sorry to hear of your illness.
Your spectrum of symptoms is fairly classic for a mast cell disorder of some sort. It's highly unlikely you have all the diagnoses you mention as problems independent of one another; it's far more likely you have just one problem which is biologically capable of causing all of your symptoms and diagnoses, and the only problem I know of which can explain the entirety of the specific array of symptoms you've listed is mast cell disease.
Probably the easiest way to start, diagnostically speaking, is to have your gastroenterologist or your family physician request the pathologist go back to the small bowel, colon, and rectal biopsies (yes, all of them, except for the gastric biopsy since that one was proven to be infected) and perform additional stains on them to evaluate for mast cell disease, since mast cell disease usually cannot be seen with the standard (hematoxylin and eosin, or H&E) stain used for GI tract biopsies. Probably the most important stain to be done is CD117, but Giemsa, tryptase, and toluidine blue stains (and perhaps even CD25 and CD2 stains) might be helpful, too. If the stains show mast cells are present, and if any areas are seen in which there are more than 20 mast cells per high power microscopic field, then that's abnormal (and the pathologist should go on at that point to send out the positive specimen for KIT-D816V mutation testing). I long ago lost count of the number of patients whose old GI biopsies I've had revisited in this manner to useful diagnostic effect. Your physicians, especially the pathologist, need to be aware that mast cells are highly "pleomorphic" (shape-changing) and can (and often do) misleadingly appear as lymphocytes, plasma cells, macrophages, histiocytes, or spindle cells on H&E staining. Given the (very important!) context provided by your clinical history, there is a good chance that significant subsets of the lymphocytes and plasma cells interpreted as "microscopic colitis" and "lymphoplasmacytic infiltrate" in your GI biopsies actually are mast cells, not lymphocytes or plasma cells.
I would not have the gastric biopsies re-examined. Infection often (normally!) increases mast cell presence in the infected tissue, so it's unknown what normal vs. abnormal numbers of mast cells are in H. pylori-infected gastric tissue. In other words, if more than 20 mast cells per high power field are found on special staining of the gastric tissue, it still would be unknown whether that's an abnormal number of mast cells given the co-presence of H. pylori.
On the other hand, if H. pylori has been eradicated, a fresh gastric biopsy could be obtained and could be accurately interpreted with respect to increased vs. normal numbers of mast cells, but there's no need to even contemplate such a procedure unless re-processing of the old biopsies comes up all negative.
Alternatively, you could have any of your physicians order a battery of mast cell mediator levels (e.g., serum tryptase, serum chromogranin A, (chilled) plasma histamine, (chilled) plasma prostaglandin D2, (chilled) urinary N-methylhistamine (24-hour collection preferred over a random collection), (chilled) urinary prostaglandin D2, (chilled/stat) plasma heparin) looking for evidence of the disease in the blood or urine, but that might quickly get more expensive than just doing one or more of the additional stains on the old biopsies.
Best of luck. Your physicians are welcome to call me through my division office (XXX-XXX-XXXX) if I might be able to be of further help to them."
I feel that Afrin's response is more useful. So I'm going to go with him. I will keep you all updated as to how my experience with him turns out.
Kim
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