Hi everyone,
I'm new to this site but have been browsing around for the last few days while mulling over my new diagnosis - masto. I'm still waiting for the final word from my immunologist but he is fully convinced I am about a year away from developing full systemic mastocytosis. He seems pretty clued in - is the head of immunology at the Royal Melbourne hospital here in Australia and they run a special masto clinic so I guess that means he knows what he is talking about. Lucky for me, he has a private practice down here in lovely Tasmania.

My story in a nutshell (no allergy pun intended!)
lots of stress and weird infectious diseases while living in China
2007 - complete exhaustion: pneumonia x 2, shingles, flu and depression (in Tasmania)

2008 - overnight in ER with chest pain but heart checked out fine
Came off the anti-depressants but developed muscle 'attacks' - agonising pain, hips, back, chest, legs - roving around my body with no obvious logic. Exhaustion, serious fatigue, and so on. Brain fog.

2009 - 2010 - muscle attacks continue in flare ups; new symptoms like interstitial cystitis which didnt respond to antibiotics, reflux, IBS, flushing after alcohol and other unidentified triggers, nasty need to rush to the loo after big meals, spicy food and so on.

Tested for: MS, lupus, R arthritis, and other autoimmune diseases. all clear. Heart good, no tumours. Saw a rheumy, gynaecologist (fibroids), cardiologist. scans of every body organ! nothing much showed up. good news is that I haven't had a cold for years now.

Then the scary news: flushing, IBS, could be carcinoids. So had all the testing for that. Nothing showed up out of the ordinary, luckily. Chinese herbs and acupuncture seemed to fix the reflux and the IBS symptoms. Now these are mostly under control.

Rheumy concluded I have 'fibromyalgia' which, as he explained, isn't really a diagnosis - more a description.

I wasn't happy (but happier than if I had carcinoids, lupus, or MS I must say). And I got on with looking up every medical journal article on fibro I could get access to (through my university library, I am a uni professor)

Sleep seemed the key - I hadnt ever had proper restful sleep, usually wake up every hour or so through the night. So, after super-human effort, managed to improve my sleep. Attacks less regular, IBS under control, IC annoying but liveable, brain fog terrible but at least its not Alzheimer's.

Then 2 months ago, I got hives from the sun, red angry skin from direct heat, hot water, the pool, the shower, and so on. Dermatographism followed straight away. The facial flushing started getting worse.

Took myself off to the immunologist and he has diagnosed systemic mastocytosis still in a developing state. Put me on lots of anti-histamines. Done blood tests (waiting for results) but expects my overall health to improve dramatically now I can control the histamine attacks.

I have realised that the weird red spots which just developed on my thighs about three months ago are probably mast cell related. (unfortunately, the immunologist asked about red freckles and I didn't click that the red spots on the legs might be what he was talking about so didn't show him).

I don't see the immunologist for another 6 weeks (despite the blood results coming in sooner than that - he is convinced he knows what the tests will show and wants me to test out the anti-hist regime before seeing me again). I'm ok with that as it gives me time to work out what this whole masto thing is all about.

So, I have a few questions and I would love to hear what people have to say

1. Fibro/Masto issue. I know research shows that fibro sufferers have more mast cells in the skin but how common is the progression from fibro to masto? do the fibro conditions improve as the masto is brought under control?

2. masto progression - how do you know when your masto is stable? I mean, if the immunologist can see that I am just starting to develop masto when/where will it stop or be stabilised? How do you know its not getting worse or do we just need to keep getting bone biopsies to tell?

3. if you were told that you were just developing masto, knowing what you know now, what would you do differently (if anything)?

4. The red spots issue - do they ever go away?

5. Solar hives - has anyone with hives from the sun been tested and is it the heat, the UV A or UV B that sets your hives off? is it worth getting tested to find out exactly what triggers the solar hives?

6. dermatographism - is this something that everyone with masto develops? if you have it, did you have it for very long before the full-on masto developed?

7. research - does anyone know the best medical journals for masto research?

sorry to ask so many questions but I have found over the last four years of illness that putting the brain to work on finding out as much as possible is a great way to reduce the stress of being ill and give at least an illusion of control!

looking forward to meeting you all,
Kaz

Just realized there were a few more questions you had that I could chime in on! You asked would we do things differently when we first got I'll if we had the knowledge we did now? If you mean, once I was diagnosed, would I have changed anything, then my answer is no. I am fortunate in that once I got to Dr. Akin, he put me on meds and I made sure to adjust my lifetime to avoid my triggers. From that point on, I never went into anaphylaxis again and I got my life back. My story is a little unusual because it reads like a fairytale in that I got much, much better and lead a pretty normal life (while avoiding my triggers). Avoiding those triggers is just as important as the meds. People forget and cheat, and then they complain they are sick. It's no wonder, though, I they are knowingly eating a trigger food or spending the day out in high heat if that is a trigger.

If you mean before I was diagnoses would I have changed anything, not really. I did everything right, so there is nothing to change. I do, however, wonder if living in a different state in the US would have kept my illness dormant. Maybe had I lived in one of the "healthiest" states environmentally wise, I wouldn't have had symptoms. Who knows.

Dermagraphism:  for me I had it my whole life.

How do you know when you will stabilize? You know when you feel better. Simple answer, but that is all there is.

Sun: everyone is different. You may react to sun. I don't; I react to heat. So, the only answer is to wear hats and stay cool or indoors

Okay, I think I answers most of your questions!

I was diagnosed with fibro 13 years before I received a diagnosis of mast cell activation syndrome (with many new things popping up along the way, like food hypersensitivity and rashes, which I now know were due to triggers).  

I'm not sure if I had one and now have both, or it's always been a mast cell issue and has just become more apparent to me, or if both fibro and MCAS are mast cell disorders.

My terrible muscle aches improved greatly once I figured out my food triggers and cut them out.  

kaz wrote on 10/27/11 at 01:16:09:



Welcome to the forum, Kaz.  Sorry you need to be here!!!  


Kaz, according to research and researchers every single form of masto is a genetic defect upon the MC itself.  They believe that depending upon the defect and the degree of that defect this influences the form of the mast cell disorder.  This is brand new research and they are only finding these things out and they are still formulating their theories, so this is difficult to know for certain.  Until they can find the genome and begin tracking the different forms looking at the genome itself, then these are theories still and they don't have definitive answers.  

However, in considering what they do know already, it looks as though this is what the situation is - depending upon your particular genetic defect, and perhaps your genetic makeup, you are going to have varieties as to the symptoms you show.  

It has been proven that there are morphologically changed mast cells in the skin of fibromyalgia patients.  Morphologically changed mast cells ONLY occur in mastocytosis!  So, this appears to indicate that fibromyalgia is indeed a form of MC disorder (oh PETER!  ).  The fact that many masto patients have Intersticial Cystitis and IBS and many other problems seems to indicate that the common denominator here is the malfunction of the MC, thus reinforcing the theory that these are all forms of a MC disorder and that depending upon the genetic defect, the patients are going to show various degrees of symptom involvement.  Yet, depending upon our individual genetic makeup, this may influence why some of us have some of these issues and others of us don't.  I don't have fibromyalgia, but boy do my joints yell at me!   And yet, if the sun hits my skin, it burns with pain and gets red easily!  Why?  Due to the excess histamine release going on, the chronic MC mediator release.  

Now, what FORM of MC disorder do I have?   Well this requires INVESTIGATION in order to find out.   Right now the researchers have established the umbrella diagnosis as Mast Cell Disorder.  On the left side you have the neoplastic/clonal/proliferative form (Systemic Mastoctytosis) and on the right side you have the non-clonal/activation form (Mast Cell Activation Syndrome) and in the middle you have the monoclonal MCAS/ MMAS patients who show BOTH forms.  

The proliferative form, SM, is the most dangerous form in that the MCs don't die off when they should and they end up invading the tissues causing real damage.  It appears that depending upon the defective form, you will have the more aggressive form of SM or the lesser aggressive form.  These are the forms which will raise the tryptase to chronically high levels and they have found that trytpase reflects the MC burden of the patient.

It is due to the unknowns of MC research that if a patient is showing a great deal of activity or high levels of tryptase that they will be required to undergo a BMB and appropriate staining and study.  It's necessary for the safety of the patient to identify what form the neoplasm is in.  

With the MMAS patient, this is also necessary and this is because they are not certain if the MMAS patient is in an early stage of the disease, or if this is a seperate form which is not so aggressive as the ISM form of masto.  At this point it seems that there are a fewer number of these patients than the ISM and MCAS patients so they are not certain what is going on here yet.   So, they are looked at with the same eye as the ISM patient.  These patients can be autoimmune/autoinflammatory or not.

The MCAS patient is the best off of the three.  These patients show all of the activity of the ISM and MMAS patient, however, the neoplasm is no where to be seen and many of these patients also show no signs of chronic MC activation.  They have a genetic defect upon their MCs, but the MCs give every appearance of normality.  

With every one of these patients, fibromyalgia, IC, IBS and any other number of other "diagnoses"  can be made and in truth, these are not seperate issues, but instead SYMPTOMS OF A MAST CELL DISORDER of some kind!

Does this make sense now?

As to progressing into SM, your doctor is kind of right.   If you are like me, suspected of MMAS, it may be that yes, my form of masto has been found in the early stages and is progressing into the full blown ISM.  However, research is still not at that point yet and they are not certain but are suspecting that instead of this progressing into the full blown ISM, it's another form.   However, even then, ISM is a progression of the proliferation of the clonal MCs, which means that you were born with a defect upon your MCs and it take YEARS AND YEARS for the progression to get to the point until it finally overtakes your symptoms and the disease shows its face.  

Those of us who have our disease suddenly and violently come out of hiding due to some kind of trauma are more often than not autoimmune masto patients, from what I've seen talking amongst patients for the past 4 years.   Yet the autoimmune form of MC disorder can be seen in the MMAS and MCAS patient and although I'm not certain I'll bet anything in the ISM patient.  Yet for the ISM patient this doesn't seem to be the major issue, however, there are plenty of masto patients with other diagnosed autoimmune diseases, but since the ISM patients have the proliferation form, more often than not their symptoms are a slow worsening progression of symptoms until it finally is obvious and the doctors find the classic case of ISM.   Yet, this is the interesting twist in that when the aggressive SM patient is found, they too go violently and suddenly from being fine to horrendously and dangerously sick!

Now, as to fibro going into masto - no, this are seperate issues within MC disorders. You can have systemic masto with or without fibromyalgia and there are patients with fibro who never have masto.  If you are thinking about the UP lesions, these are lesions on the top layers of the skin whereas fibro are morphed MCs in the deeper layers of the skin.  So it's a MC disorder of different characteristics.  Understand - they one doesn't move into the other, they remain separate.

Stability is also a separate issue and I'm not sure how you can attain this with ISM.  They tell patients to keep their triggers down but I don't know if this affects ISM, but I believe it helps keep the cloning process down.  The MCAS patients seem to me to be more reactive and the reacting can get into a vicious cycle, and this is more so for the autoimmuners since they are allergic to their own selves.  But in whatever form, keeping those triggers at a minimum is essential REGARDLESS of the form.  But since there is still so much that the researchers don't know, these are my own thoughts on the subject and I could be making a researcher laugh their head off at my theories right now!

As to knowing the worsening/progression of the masto, this is reflected through the Tryptase levels, CBCs and the biopsies, not the behavior.  The symptoms are a seperate issues and there are some aggressive SM patients who died and their families only knew of the disease upon autopsy!  So they didn't even know they were so sick until after they died and yet there are some autoimmune IA patients who are the non-clonal MCAS and they are so horrendously sick they are prisoners of their homes.   But the "progression"  is based upon levels of anemia and also evidence of pathological damage in the organs and bone marrow.   But this is mainly applicable to those who have the proliferative form.   REGARDLESS, the CBCs and Tryptase are the easiest means to seeing the health of the patient.

Would I change anything?   WHY?  It's a useless question that you will only torture yourself with, Kaz, for it's in the past.  What you know now is what matters and that means accepting the facts and listening to your body and adapting to the changes you must do in order to find health and stability once again.  Yet what you are really asking is did you do anything to provoke or cause your masto?   NO!  It's a genetic disorder!  Genetic researchers are trying to find the genome now for they suspect that this could be a much bigger kettle of fish than previously thought.  You may have it in the family without knowing it and it only showed up in the full blown form in you.   Others in your family may have lesser degrees of this defect and this is why you don't see them with it.    I say this because this is what we are finding in my family - both of my sons seem to have it and yet we are keeping an eye upon my daughter but for right now, she doesn't seem to have it.

Those red spots should be biopsied, stained with Giemsa and put through the immunohistochemical testing for masto, just to see why and what is going on there.   You could have TMEP perhaps.

Solar hives - my daughter has had these, but my sons and I do not.  My skin will burn with the heat, however.

Dermatographism - too much histamine in the skin.  I have this - not a big deal, but a symptom of masto.

Research???   It's all spread out in many different journals and you won't find one specific one with a concentration of it.   It's best if you google the subject, trying to find some aritcles and write to the author to ask for a copy.

Whew!   I got into this more than I thought I would!!  Sorry!

I hope this helps!

Lisa

hi kaz been a une proff and if iam reading you right

you are able to look at this in a professional way

and you no that looking at the past is a way of

leaning form mistakes as a way of preventing

the same mistakes from happing again either

for your sleuth or if lisa is right and this is

HEREDITY for your KIDS to have the best chance

to prevent progression or activation IF IF

if kit 816V-IN-EXON-17 is past on to our kids

thay can prevent anaphylaxis my first shock

was to anaesthetic my kids will have an operation

sume time and will need treatment for what ever

comes up the doctors need to know IF IF IF

thay carry this mutation to again to prevent

Kaz,

Hi and welcome!  I didn't see any place you mentioned being tested for parasites, and with your being in China, I wonder about that.  It looks as though you've been thoroughly gone over for almost everything else!  Have you read at all about mastocytic enterocolits?  It's considered a rare disorder in the U.S., and it can be caused by parasitic infections.  You can Google it and find information on it.

Hope you get some relief from the antihistamines.  If you haven't already seen it, you might want to look up the low histamine diet.  I like the one posted on the internet by ICUS.

  Don't have anything else to add to the other great comments already posted.  Let us know how you're doing!

I spoke recently with Dr. Blanco and he told me that a colleague in Spain has asked for his participation in further research on fibromyalgia.   He also told me that one of the masto authorities has begun prescribing Ketotifen for his fibromyalgia patients.  

Although Dr. Akin may not give much value, you have to see that this finding on fibromyalgia is not saying that it is mastocytosis of the skin, but the fact that the mast cells are misshappen is very important for this has only been seen in mastocytosis patients.  There are patients who have these misshappen MCs in their bone marrow but were not given the SM diagnosis purely due to the fact that they didn´t have enough numbers shown.   But the fact still remains that so far, the only disease shown to involved misshappened MCs is mastocytosis and since this is seen in many masto patients, the presumption is that it is a related MC disorder.  But to what extent is this so?  

Yet this is why MC research in regards to other pathologies is so important for the more they learn about the MC and how it shows itself with other diseases, the more they understand MC disorders as well.   It may be that these are two seperate pathologies, only further research will prove this.  However, until there is another disease showing morphed MCs then the presumption remains that this may be connected to other MC disorders.

Now, as to having any kind of articles, I am afraid that I do not.  

Joan, you are right, much of this understanding that I have gained is from taking my thoughts and conclusions and speaking with researchers themselves about this.  I'm in a situation which I wouldn't wish on anybody, for it's very difficult.  This is when I wish I were back in the States and in Dr. Castell's hands herself, for this is the kind of case that requires not only an authority, but a researcher's support and here in Brazil I don't have that access.  My doctors are trying to give me the support I need here, but I'm working with researchers and authorities in cardiology at Harvard due to the involvement of the aortic aneurysms with my entire family.   We are ahead of research - we are their mouse models!!  They are going to learn with us!!

So, in having to look at my children with very suspicious eyes, my doctors and I are investigating them for masto as well as the aortic aneurysms.  They are enrolled in the Harvard study on these aneurysms and their suspicion is that the mast cell defect is the cause.  

So, this is what has given me this understanding, Joan.  Since the ball is in my hands, and since I'm the one living this nightmare and have my children's health to be vigilent for, I have done lots of intense study and thought on this.  I'm no doctor and don't want to be one and I'll bet you I've got plenty of things wrong in my understanding of this, but this is what it is.   We are in front of science and research.  As one of my doctors said to me, we are dealing with hypothesis and theories and have left the concrete.   Whether or not it all pans out to be so, only research, when it catches up to us, will prove as to whether we were right or wrong.

When I was speaking with one of the researchers, I was told that ALL forms of MC disorders are genetic - ALL of them!  I have a couple files which do deal with the genetic aspects of MC disorders and this was the basis of Dr. Akin's landmark discovery with IA patients when he found the genetic defect of the MCs on 1/3 or those patients he tested.  So, this is known.  But the suspicion that the cardiological researchers that are working with me is that the MC genetic defect may go future and since they are world renoun geneticists, who am I to question their suspicions?!  If they are suspecting this, they they must have a basis for this suspicion.  These researchers are some of the best cardiological geneticists in the world and the groundbreaking work on the involvement of the MCs within Abdominal Aortic Aneurysms in mice came from their work.  So, this is why I feel confident in my own thoughts in this for they've confirmed my own suspicions regarding my children and have instructed me as to what I need to do with them.  When my own doctors showed the same concerns and confirm these suspicions as well, then this is how I knew that my thoughts were on the right track.  

So, sorry, I've got nothing to prove my thoughts as far as published reports.  I wish I had for then we might be closer to having more concrete answers!

As to the fibromyalgia report, I'll gladly send it to anyone who wishes a copy.  As to increased MCs within the bones due to other pathologies, I really can't say.  Mastocytosis is the increase of MC aggregates, not just MCs.  If the MCs are normal, this may not be the same as mastocytosis, but instead an MC hyperplasia.   This is something that we have found in my cervix tissues and this is indeed found in other tissues and why not the bone.  However, WHY?   Dr. Castells told me that the MC hyperplasia we found in my cervix was caused by my masto especially since my gyno confirmed that there was no other pathology which could have caused this.  I had no disease or infection or anything which explained this!  The tissues looked completely healthy to the naked eye, it was a purely pathological finding which had no basis with any other disease other than my masto and since SM is known to cause this, we suspect that I have the neoplasm.  Since we found the MC aggregates in my son, we're pretty certain that I have it as well, only in the form of MMAS.

I hope this helps!

Lisa

Monoclonal MCAS.   This is a new diagnosis.  It has one foot in the clonal camp and another foot in the non-clonal MCAS.   This group ties the two together and it may not be that it´s really a seperate form, but a pre-mastocytosis form.  They aren´t sure yet.   Yet, this form is what ties the convictions that MCAS is indeed another form, a lighter, less agressive form of masto.  This is why the researchers and authorities are not so worried about the MCAS patients as much as the SM patients for although they now know that MCAS is indeed part of masto, the fact that they can´t find any real pathological damage and thus proof of clonal mast cells means that these patients go through the torture of mast cell activation without the damage that the proliferative form causes.

So, for right now, this patient group straddles the fence, thus tying to two forms together.


Lisa