Kim, I am sorry about this and I do think it´s worth asking Dr. Afrin about since you are one of his patients.   He will give you instructions and will probably tell you to have an ultrasound done to check it out.

As to your situation, you may not be aware of this but even though, up to now, you´ve not had any of the typical markers prove that you have the clonal form of masto that doesn´t mean it´s not there.   Peter put a a link to an EXCELLENT article which recently was published by Dr. Escriano about the biology and diagnostic processes for clonal MCDs.   Get a copy of this article from the link that Peter provided.  

The researchers have been saying for a while, but not written it down, that they suspect that one of the reasons why some of us don´t fit into the WHO criteria for SM is because we may be in early stages of the disease.   This seems to be so in my case.  There is also the problem that if your tryptase is low, in the normal range, that without the very sophisticated exams to find those pesky MCs, you won´t find them!    Yet, as according to this article, they are also suspecting that depending upon the genetic defect you have on your MCs, your form may be so very slow growing that it doesn´t raise the tryptase much, which means that your MC burden is so very low that it doesn´t show up so well.  

Unfortunately, there is still a GREAT DEAL MORE that the doctors have at hand in trying to figure all of this out.  They are only now scratching the surface and what they do know is that there is more than one genetic defect on the MC.  There is more than one involved in some patients and it is this which determines how the disease is going to show itself.   This may explain why you can have an entire family with some sort of symptom which may line up with an MC disorder, but only one in the family will show the full blown disease.  Others in the family may inherit only one defect, or at only a certain degree of the defect and yet there may be that poor soul who got the whole shebang.  And in those who were more fortunate, they may never have any real clue that they´ve got it, but the poor soul who lucked out, he´s as sick as a dog.


With this understanding, when I look at my own family I see myself and my siblings clearly reflected!  Now, at their ages, they are beginning to complain about fatigue and vague allergic reactions but they will deny that they have my illness because they aren´t clearly sick, not like I am.  And yet, every single one of us have the aortic aneurysms.  And then when we look at my cousins, they don´t seem to have any allergies either and none of them seem clearly sick, and yet they too have the aortic aneurysm and their mother died from hers as did my father.  There is a connection and it reinforces these recent discoveries and theories that the researchers are now coming to.    Our genetics have an incredible role in this and the one family of cousins has their genetic influence coming from both their mother and father and this makes things separate from my own siblings due to the influence of my mother and also what my father inherited differently from his sister.

So, when you look at things through this light, looking at your own case, looking at the fact that liver problems are proven equally in MCAS as well as SM, then you have to consider the spleen and what extent this is indeed MC involved.   Are you SM?  I think, personally, that you are PRE-SM or as it would be considered, MMAS (monoclonal MCAS).   I think, Kim, that you are in my boat and I would speak with Dr. Afrin about this possibility and how you can go further with your diagnosis.  

What I would do were I you is that I would ask Dr. Afrin if he could speak with his colleagues about doing exams on you - a new colonoscopy and a BMB as well.  This way, he could oversee their work  assuring that the biopsies were properly done and properly tested.  He could have you hospitalized and ask his colleagues to do the appropriate tests one day after the other while you are properly medicated and surrounded with cares all under his supervision and instructions.  It would not be a long stay and it would not be any different than your going to Vanderbilt and doing the very same thing with them.  

It´s just a suggestion, but with suspected spleen involvement, a positive ultrasound would indicate that yes, you have suspicion of SM and it needs further investigating, but you need a masto specialist to do this RIGHT, which is why I would ask him to take your case in hand and take it further and done properly.

I hope this helps!


Lisa

Lisa and Wendy,
Thank you very much for your input on this. I have to admit that I have to try very hard sometimes to not get myself worked up into thinking the worse so with that said I've been very cautious in thinking it possible that my case is changing from a diagnosis of MCAS to systemic involvement. However, I have had this nagging feeling for a few months now. Let me explain. I've read about changes in our bones and systemic involvement. I have been diagnosed with Osteopenia. I most definitely also have some joint issues which are expanding. It was only my right hip but now it's BOTH hips and both elbows, wrists and occassionally my shoulders will flare up. Xray only shows arthritis in my hip but several months ago xray didn't mention that finding. Also many of my already exsisting symptoms are getting worse. Oh, yeah, and not sure this is relative but I noticed that when my tryptase is measured it is slowly increasing not decreasing or remaining the same. I started with a tryptase of 6.0 in Aug 2011 and then Sept 2011 is was 6.5 and the last one I had back in April this year it was 7.6. I've never seen it fluctuate high and then low. Only increases. My mental/brain fog is getting disturbing to say the least! I am showing more skin involvement as well. I get SO confused when I attempt to research things and because of this I try to mentally calm myself down and convience myself that if I were becoming systemic I would have a high tryptase and anaphylactic episodes and most likely something would show up on a CBC. Well, after your response, Lisa, I can see that that is not necessarily true. I will continue to mentally calm myself but attempt to learn more AND contact Dr Afrin with his thoughts.
AGAIN, thank you both for your input and in a way letting me know that I'm NOT crazy after all (Well at least not totally) LOL

Kim

Yes my tryptase is still normal. And I may be incorrect in my thinking but I see a pattern of increases and no decreases which seems significant. I don't mean to be difficult and I say this with nothing but good intentions, but I disagree with the thought process you expressed as to why pursue finding out whether it's becoming systemic or not. I understand that a great deal of the treatment options are similar but (anybody feel free to correct me here please) if systemic involvement becomes a reality I 'think' there is stronger treatment options depending on the need. But also I think that since researchers are having to learn more about this disease to better understand it so perhaps more effective treatment options could come with the learned knowledge then I think its our responsibility as patients that we should also press forward for better understanding and ask our questions and dig for answers and simply be prepared to be the guinea pigs in this early stage of the beginings of understanding and treating this disease. What if those patients who didn't meet the old WHO critetia for a mastocytosis diagnosis just tucked their tails and went home to suffer? I don't think those of us today that do not meet that 'old' criteria would be benefitting from our H1, H2 and mast cell stabilizers today.
So I hope I have explained why I personally feel the importance of pressing on for more answers and that I was able to break through this rediculous brain fog of mine long enough to try to make sence
Oh and let me reassure you that although I have moments of anxiety I am not stressing myself out over this. I've learned and continue to learn to have a higher faith that carries my heavy loads for me

Kim, I´ve had some really interesting talks with Dr. Afrin as well as Dr. Molderings.  Dr. Molderings is the only one who is actively researching MCAS patients.  Although Dr. Castells is considered the highest authority, she´s not been putting out any active studies on these patients yet - and I think that´s cause she´s bogged down.  Dr. Escribano has recently published an excellent report the one on the Biology and Diagnosis of clonal MC disorders.  

This situation we are in, and I´m right there with you, is indeed concerning.   If you speak with Joan she will tell you that in the beginning she was not given an SM diagnosis and her tryptase was in normal ranges.  Then it went from SM to smouldering SM and she´s being watched by Dr. Gotlib.   You have every reason for concern, my friend for just because your tryptase is still in normal ranges doesn´t mean that it isn´t going to progress.   Mine has also been slowly rising, but it´s not rising as fast as yours.  

I hear what you are saying and I too have turned myself into a bit of a lab rat in now trying to find out answers for this prolonged syncope.   Unfortunately this is sometimes the direction some of us must regretably go, however, when  you are talking about cytoreductive agents, things like chemo and the such, this is very, very concerning experimentation.   This is why they do it only on those who are more advanced in the disease and their lives are being threatened for they don´t know yet if this might not kick the disease into high gear where it may have remained quiet for years to come yet.  They don´t want to shorten your life.   So, they are chosing to be conservative with these meds since our mast cells are something we can´t live without!  You can´t just go in and target the MCs and think youll get rid of the masto for even a bone marrow transplant won´t do that!  You´ve got to speak with Dr. Afrin and ask him what options that there may be.  There is good sucess with Xolair, which they are using on ISM patients and this seems to be a much healthier option for some of us.  It may not create the damage that some of the other possible options are showing.  

I understand your concern and I understand your desires to improve your situation and avoid a downhill slide, but remember, we are in an unfortunate position of being on the early end of research where they are unsure as to what is helpful and what is harmful and you could push yourself out onto a limb where there is no way to go back.

So, trust Dr. Afrin.   He´s a hematologist, which is a definite POSITIVE.  He´s dealt with cancer patients for years and he´s not going to allow you to get into trouble without doing something about it.   He may have some options for you and I think you really need to talk this over with him.   Tell him your fears and concerns, just as you have here and see what he has to say.   He has connections with the other doctors and he will use their advice and support for he´s that kind of man.   He´s not at all arrogant and he knows when to seek out help and advice and he won´t send you down a wrong road.


I hope this helps you with some of your concerns!!  

Lisa