Hello to everyone. I would like to start by extending my sincere gratitude to Deborah for creating this forum. Since I've been home on disability I've been doing research like a mad-woman. My research has led me to topic discussions in this forum several times. I cannot express how wonderful it is to find hope in gaining insight and advisement from individuals familiar with MCD.

I am a 35 y/o M.A. working in Cardiology. In May of '10, One of the physicians I work for had me transported via ambulance to the E.R. for sinus tachycardia. My HR was at 164 bpm in normal rhythm. I was kept overnight for observation. All of the cardiac testing was normal, including a negative result for carcinoid syndrome. The only abnormality was my pre-albumin being low, indicating malnutrition. This is not a surprise being that I seldomly have an appetitie. I eat on average every 3-4 days, simply because I'm just not hungry. When I do eat my food comes back up in spirts. A few months later I was again sent to the E.R. for a similiar episode. This time my D-Dimer test was positive prompting a CT scan which was negative (thankfully) for pulmonary embolism. I was d/ced the next day and referred to a cardiologist outside of my practice whom is board certified in multiple specialties. This doctor is wonderful. He spent 2 hrs. with me going over every symptom I've ever had. This is the first time I've conveyed ALL of my symptoms to a doctor, being that there are a multitude and I was beginning to feel like a hypochondriac.

2.5 yrs. ago I had 2 lymph nodes extracted for biopsy. One of my lymph nodes swelled to the size of a marble and didn't respond to a 1 month regimen of antibiotics. The surgeon removed 2 during the surgery because he discovered another swollen lymph node. The biopsy was negative for lymphoma and diagnosed as hypercellular activity. Other than that my symptoms have been nausea, vomiting, tachycardia, lightheadedness & dizziness, abdominal pain, severe itching with no rash, flushing, migraine headaches, excessive fatigue, bone pain (moderate to severe), joint pain & swelling, occasional night sweats or just feeling hot, shortness of breath, and burning sensation of my skin. I have little red bumps on my thighs and some on my trunk area. These little red bumps kinda resemble pimples, being that they have a little white head but while in the bath they become more prominent. A few of them have turned blood red after being scratched and look like a blood blister but not actually oozing blood...odd.

This doctor did a scratch test which was positive for dermographism. Funny...I always thought I just had "really sensitive skin". He ordered a 24 hour urine test which showed a high histamine level. He then ordered a serum tryptase level which came back slightly elevated at 14. I was referred to a hematologist at Yale whom after reviewing my records and examining me told my husband and me "This is one of two things...either mast cell malignancy or mast cell hypersensitivity. Either way, they are treated the same." He put me on Zantac and 10 mg's of Doxepin. He ordered a bone scan with repeat bw and had me f/u in 1 month. The Zantac has certainly helped with the chest pressure and reflux and the Doxepin has impressively lessened my bone pain and itchiness. The red bumps seemed to be going away, however, when my symptoms again heightened, they seemed to reappear. During my f/u appt. the doctor told me that my bone scan was relatively normal showing only nonspecific uptake in the L5-S1 region, likely degenerative in etiology. He specified that he was looking for cancer. Cancer has never been a consideration of mine. My bw (which was repeated 10 days later from the previous) showed my tryptase to still be at 14. He stated that because he had expected my repeat tryptase level to be in the 200's he didn't suspect MCD and presumed my symptoms to be in my head. Since he sees cancer patients only was dismissing me as a patient. However, he did increase my Doxepin to 25mg's since it lessened the bone pain and said to have my PCP repeat a tryptase level in 6 mos. My husband and I were shocked at his sudden change of heart and curt demeanor, dismissing any questions we had and literally backing out of the door while we were asking questions.

I have since followed up with the original doctor and he (as well as my husband and I) are not ready to dismiss MCD. He has reviewed all of the hematologists records and is also displeased with his practice of my case. My doctor is trying to locate a hematologist he can present my case to that is familiar with MCD as well as getting other ideas from colleagues in looking into other possible diagnoses.

I so apologize for the LONG story. I know it's a tedious read. Will somebody please give me their insight? Should we dismiss MCD as a possible diagnosis and move on to testing for other things or are we correct in thinking it's still worth looking into? HELP!!!

In the meantime I am still on disability and have more bad days than good. I really want to feel better, get back to work and live the active lifestyle I have formerly known.

Thanks all for reading.

Lisa

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

Hi Tracey,

Yes I have... I even had one biopsied and stained for mast cells.  The blisters are a bit itchy when they first come up.  Once the blisters are gone they leave petechiae for a few days.  It's basically like urticarial vasculitis, except it's not dangerous since my complement levels are normal... I don't need any special treatment for it.  As long as I avoid hot showers and take my medications I rarely get these blisters

I've had several different kinds of rashes... there's no harm in talking to a dermatologist if you have any concerns.  I have a few spots that sound like what you're talking about... tiny bright red dots that never go away.  It looks like I drew on myself with red ink.

Heather

I don’t know if my red spots are masto related or not?  I started having my mast cell disorder two years ago and at first I didn’t have any skin issues (besides hives) but as time progresses so does my skin involvement.  I get rashes now if I take any medicine or if I eat things I shouldn’t.   I also flush a lot more now and my skin is very sensitive and very itchy all the time.  

Take Care,
Tracey

Lisa:
Sorry to here about the burning skin as that is my chief symptom. It is a very frustrating one. Most of the time I can't figure out the exact trigger, I think it's the bucket theory. You can try cooling your skin, but mine is so sensitive to cold that doesn't work well except on the bottom of my feet. But a lotion with peppermint that I use helps. Menthol based ones also can help, but usually have alochol in them and dry the skin which is bad. So make sure you keep your skin hydrated. Wear as light of clothes as possible, with mine the the heavier the clothes the worst the pain. Silk & microfiber are lightest. Out side of that the meds that you are plus a pain med. Mainly one that doesn't release histamines. I'm Nasid intolerant so my choices are limited,Tylonel does nothing for my pain, tramadol takes the edge off, but better than nothing. Most of the other pain meds like vicodin, oxycodone helped at first then caused worst burning.

Tracey: I have a lot of red dots all over, when I went to my derm he said no big deal, wrong the are connected to masto. The blisters I get infrequently though but when I do my skin pain all over goes up so they are a sure sign. I didn't start getting these till about a year or 2 ago before that I was like Lisa no blisters or rash which is what took so long to figure out I had masto. I have found nothing to make the rash go away that doesn't increase my skin pain more, so I let it run it's course since I've been on gastrocrom, the course is a lot shorter than before.
Wendy: I also have trouble with warm baths. I didn't realize it for a long time, but the red color that I came out of a bath with wasn't normal, it was flushing. Now I do more hand washing or showers ,but  with my skin pain no direct shower. Glad you found a local doc to help. I have heard mixed reviews on the guy at Mayo, including one of his patients, who now refusing to go back to him. So if it's possible and you need experts, although I haven't gone it's common knowledge that Boston is the place to go.
Good luck all
Mike V

Well, the singulair isn't helping me nor my antihistamines.  It's not horrendous as far as a symptom goes.  It's like having my feet and legs swell with the heat - it's uncomfortable!

I CAN'T WAIT FOR OUR WINTER WEATHER TO COME!!!  

It had me fainted out on the couch for about 2 hours tonight - I went out to the doctors this afternoon and although I didn't feel it then, it hit me later!   Oh what a tough disease this is to live with at times!  

Hi Cydnie,

If you want to post your lab results in a separate thread, I would be happy to help you interpret them as best I can.  Please include the ranges if they were given to you... they vary a bit from lab to lab.

Heather

ps - "baso" = basophils, a type of white blood cell that serves many of the same functions as mast cells

I just wanted to pop in and give a Welcome to Lisa and Wendy! We are family here and the more is definitely the merrier  Glad youre here.
Hugs,
Ramona