Lisa
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Yes, Welcome Lisa! I reinforce Heather's greeting for we are glad to have you here!!!
Lisa, that hematologist's attitude was pretty typical, unfortunately. They get accustomed to working cancer patients so they tend to blow us off as though we have only a cold! It is DEFINITELY NOT IN YOUR HEAD!! Dr. Mariana Castells, who is one of the highest authorities in masto in the US says that the amount of symptoms that we go through has NOTHING to do with the severity of the disease itself. There are patients who are aggressive masto patients who never knew it until BAM, they were hit with it and then suddenly found themselves fighting for their lives. There are others who only found out that they were masto patients when they reacted to the anesthetics used in surgery! And yet there are others of us who don't qualify for the WHO criteria for Systemic Masto and yet we find ourselves disabled or close enough to it with the disease!! There is still so very much that the researchers do NOT know about masto that they are often more forgiving in dealing with us than the lesser doctors are. Too many of the lesser doctors are very legalistic about diagnosing the disease, but those who study it know that it's a disease that is still in discovery! The document that Heather will send to you will help you get an understanding of this. There are some forms of the disease which are recently discovered within the past year or two and other forms which haven't yet been studied! My theory is that within 10 years they will find that the SM form, which is a clonal/proliferative disorder is fully connected to the MCAD form which is either a pre-SM form or a nonclonal/activation disorder. I really suspect that in truth there are three major forms of the disease, the two of clonal and then non-clonal and the one in the middle which stradles both forms. The reason why I say this is because the mast cell disorders all have the same symptoms and are treated the same and all involve the dysfunctional mast cell. The clonal form is a known genetic disorder but I'm sure that as research progesses that they find that the activation, non-clonal form is also a genetic disorder too. But it seems to me that those who have the activation disorder seem to have more activity of the disease, for sometimes there are autoimmune elements behind it, but as far as they know, this form of the disease doesn't invade the tissues and cause that kind of pathological damage and so technically the patients are in better shape - the lack of pathological damage, invasion of the tissues is what makes the doctors look at this form of the disease as nothing more than a nuisance and that of living with "allergies". This is why the hematologist behaved the way he did. You were not an "interesting " patient!
What he needs is to live a week in your shoes! Well, that doctor gets put on the "bad manners" list and should be sent back to "Basic Beside Manners #101" class!!!
Okay, Lisa, your tryptase is not so elevated, that doesn't rule out masto and that is well known, but unfortunately not by the lesser doctors. We all trip over this one! The tests are not 100% certain and they don't know why. They seem to be finding that the tryptase level coincides with the mast cells present and the lower the tryptase the fewer the mast cells in the marrow. However, the researchers are finding that there are some forms of masto which the tryptase is without a doubt low. They don't understand why yet, but this is being discovered. Some Idiopathic Anaphylaxis patients have been found with no raised histamines, no raised prostoglandins and no raised tryptase as well as no MC aggregates in their bone marrow. But when they did sophisticated testing of the marrow on the few MCs they found, those MCs had the genetic defect present! This finding is what broke the dam for the MCAD patients for it showed the researchers that masto was not fully dependent upon the WHO criteria for Systemic Mastocytosis! After that they discovered yet another form, called monoclonal MCAD and these patients are who straddle the two camps being clonal but not fulfilling the WHO criteria for SM. So, with these two recent discoveries, they had to admit that there's still a great deal to learn about masto and that forced them to recognize the MCAD diagnosis. It's a matter of time now before they begin studying this group of patients.
Your histamines are high, so are mine! This is my only positive confirmation that I do have MCAD. Dr. Castells bases her diagnosis of MCAD on at least one proven test of chronic mast cell activation be it urine histamines, prostaglandins or tryptase. So, this would indeed be your diagnosis, Lisa, for there is no other disease which pushes the histamines levels that high. The only reason why this would not really be diagnostic for mastocytosis is because histamine can be released by basophils and histamine is involved in some other diseases like carcinoid, but nothing will drive it up so high as masto, so you can feel secure that you need not look any further. This is the disease and your search for what you have is over. Now what needs to be done is to find out what form the disease is in.
Lisa, you have two excellent doctors up in Boston at Harvard: Dr. Mariana Castells and Dr. Cem Akin. They require a full workup for masto before they'll see you, but having some kind of proof of MC activation will open the door for you. You also have another choice in Dr. Lawrence Schwartz at VCU in Richmond. He was from Harvard but moved down to Richmond. He is the doctor who developed the test for Tryptase.
It would be well worth your time to go to any one of the three doctors!!! They will put you on the appropriate medications and treatment and help you to regain some of your health.
As to testing, you should have a 24hr urine prostaglandin D2 exam performed as well as autoimmune markers. Heather's suggestion is excellent and you should definitely do that as well. You should also have an IgE panel run - looking for antibodies. I'm fully negative for these and it only reinforces that my reactions are coming from disease and not IgE mediated allergies.
Others may not agree and your doctor may not either, but I feel that a bone marrow biopsy is worth doing for in doing it you leave no stone unturned. It gives a good baseline look at your marrow and sees how it is, if you've not already done it.
These are the tests that Dr. Castells and Akin would require in order to see them. Beyond that, there are no other really specific tests for masto. We have only a few markers, unfortunately, and this is part of what makes it so hard to diagnose us! And the crazy thing is, of these few markers, some patients will show NONE and yet due to their symptoms, they still are masto patients and are often given the diagnosis of IA - idiopathic anaphylaxis.
So, don't worry, there is no more searching necessary. Your high histamines is what did it for you, it points one very huge finger direction at MCDs!
I hope this helps!
Lisa
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