Hi Debbje!   Welcome to our family.  I do hope you feel at home with us here.   I´m sorry I didn´t see this earlier, I don´t know how I missed it.   Sometimes, for reasons I´ve not figured out yet, sometimes this site lights up with everything red and blinking even though there is nothing new that´s been posted and I´ve been finding that I´m tired to trying to make it stop blinking and so I just ignore the blinking lights, but this makes it so that I end up missing a posting or two and so this is what happened.   Sorry!


Deb, you raise several things that are going on with you that I can fully relate to and I hope some of my answers will give you some hope and direction and who knows if perhaps there isn´t some way to also give you some help.   I´ve been where you are now, and so I know the torture of limbo that you´ve been living with.  

Now, let´s address first these aneurysms.  Yes, aortic aneurysms can indeed go with a mast cell disorder and the scientists at Harvard are studying my family and other families with a history of vascular accidents and congenital cardiovascular problems like Marfans and EDS and other disorders especially in conjunction with a MC disorder.   They believe that there is indeed a connection and they are hunting for it and I´ll bet you anything that they find it for the major research into mast cells and their involvement in aortic aneurysms is coming out of Harvard and they are the world´s leaders in this research, so they´ve got a good head start on everybody else.    If they can find this, for they are looking for the genome of the mast cell, this will bring to mastocytosis research an incredible breakthrough for they will be able to find out an incredible amount as to mast cell disorders and what is fully behind them from that point on.

So, I would highly recommend that you join this study, but in your case, Deb, I would even recommend that you consider going up to Boston for your own safety and care and that these doctors may be able to help you in many ways.   I´m going to PM you regarding this, for I can see that you´re needing their help as much as I did when I was facing surgery.  

Now, on to the other things you raise in your post.

As to your MCAD, you´ve really been going around in circles, haven´t you?!   Time to stop this!!!

You are needing to see an expert in Mast Cell disorders and I honestly think you need to go to Boston and see Dr. Castells.  When you have been in the run around with NETs for as long as you have, then you are needing someone who knows how to look at masto and knows how to diagnose it in order to eliminate any question as to the NETs.   There are some of us who really give even the experts a real run for their money and you've obviously got one of those cases.  So, I'm going to also give you Dr. Castell's contact information and suggest that you write to her explaining much of what you've talked about here and see if there is any way she can help you find some answers.

I've been through 2 investigations into NETs and thankfully was in the hands of an authority on them here in Brazil and he did a tremendous job searching for the tumors and ruled them out - twice.   My masto specialist has never had a hypertensive MCAS patient before and she's learning about this new diagnosis with my case and she didn't know that masto could present with a hypertensive variant.   What we also didn't know then was that my aneurysm had a role in the hypertension and this was part of what was causing the confusion.   Now that my aneurysm has been repaired, I go through more normal masto behavior with hypotension being the issue.  

Now, it is due to this that I understand the confusion between the two diseases and although your pancreatic polypeptide may be on and off, that may be due to mastocytosis instead.  I very honestly will tell you that I don't know anything about that marker, but I'm wondering if that peptide marker can be elevated whenever you have anything wrong with your pancreas.   I question this because mastocytosis is known to invade the pancreas with mast cells and this is one of the organs which mastocytosis will infiltrate with mast cells.   The problem is that most doctors don't know mastocytosis and so they don't know to stain and test for the presence of mast cells with a biopsy and you can't see the MCs without the proper testing methods performed.   So this is why a LOT of cases of mastocytosis will go unrecognized when you come to pancreatitis and other organ megaly.  

Mastocytosis is known to invade the intestinal tissues, the hepatic tissues and ducts, the pancreas, the spleen, the lymphatic system and the bone marrow.  It will also ocaissionally invade the lungs and kidneys when there is fibrosis present.  These are the major organs where mastocytosis has been found, however, even without the invasion of the MCs themselves, you will still find that organ enlagement can happen like with the liver, due to the mediator release from the MCs.  So, it's not an easy thing to find for without that proper testing, the doctors don't see the MCs and the cause for the damage goes undiagnosed.   The doctors have to think mastocytosis before they can find it and since it's such a rare disease, most doctors don't even know how to hunt it down much less even remember that the disease exists!   They say that a doctor is fortunate if he sees even one case of mast in his entire career!  So, it's little wonder why they just don't think masto!

Now, you are already showing a prove of mast cell activation with your prostaglandin D2.   So, you already have the diagnosis of MCAS with that one marker.  Prostaglandin D2 is only produced through mast cell activation, period!   However, it is now known that depending upon your form of mast cell disorder, some patients do not have an elevated tryptase.  I don't and they are finding that the only patients who will show an elevated tryptase are those with Systemic Masto (SM).  The other MC disorder patients won't show it and this is due to the fact that their MC burden is not high enough to raise the tryptase levels.  

However, the reason for this is because for the past 20 or so years the researchers focused only upon the neoplasm of the mast cell, the MC aggregates for it was the only concrete proof that they could get to explain mastocytosis.   They had known about mast cell activation, but since they had no way to prove yet as to this indeed existing without having the aggregates of MCs, they decided that this was not possible.  Now that technology has improved enough that they are finding that the genetic defect exists on patient who do not show mastocytosis, they have officially recognized that MCAS is a real disorder and a form of a mast cell disorder and that mastocytosis is only another form of it.

But, this delay in information has created tons of headaches for us patients and our lower level doctors for the word has not yet reached them that MCAS exists and how to hunt for it and diagnosing MCAS is even more difficult than SM for it's pretty much a diagnosis of exclusion.  And then you have THOSE cases which are very difficult and it takes an expert to finally pin down the diagnosis.

As to the other markers you mention, I really don't know about them, but I do know about serotonin levels.   I have spoken with my oncologist about this as well as Dr. Dean Metcalfe of the NIH.  Serotonin is normally a marker for carcinoid tumors for they will raise serotonin to very high levels.   However, serotonin is also released in masto patients, however, it will not go quite as high as in those tumors which is why serotonin is not considered a marker for masto.   However, Dr. Metcalfe did a study on serotonin levels in masto patients and in some of us, for some odd reason, our serotonin levels will go below normal levels, way below in some of us.  

When I was testing for the carcinoid syndrome this was one of the oddities of my case which ended up being an excellent lesson for my oncologist.  The first time he tested me my serotonin levels were at 95 ng/mL.  This is slightly below normal.   When he had to test me a 2nd time, 2 years later, to remove doubts that my dermatologist had, my levels were markably dropped and had gone down to 53.ng/mL!   My 5-HIAA levels also reflected this drop and they too were way below normal, something he had never seen before!  He was like this when he saw my results!   According to Dr. Metcalfe's study, this is something that has only been found to happen in masto patients.   He doesn't know why, but this is how it is.    So, if you have a very below normal reading of serotonin, this would be another indicator that you have some form of mast cell disorder, Debbie.  

It's sometimes taking the small puzzle pieces and putting them together that you gain a vision for the bigger picture.

Now, back to the aneurysm.  Debbie, Dr. Basson is no longer at Cornell University and is instead head of the Translational Research Department at Novartis in Boston.   He is not able to see patients at this time, however, Dr. Christine Seidman is working with his patients and she is the head of the laboratory at Harvard where this vascular defect and masto study is being done.  

What I'm going to do is write to you a PM regarding contacting them and contacting Dr. Castells for I think that if you can indeed go up to Boston and see these doctors you may be able to resolve in one trip your diagnosis for masto as well as your aneurysm needs.  So I will be writing you.

I hope that this has helped you!

Lisa

Joan,

I think that would be a very wise thing to do!   You don't have to have hypertension to have an aortic aneurysm, not with this disease you don't.   The weakness may be there regardless and just the regular pressure is enough to create the aneurysm.   The majority of my siblings do not have hypertension and yet they all have aneurysms.   It's that the aorta is inherently WEAK.

So, dear, Yes.  Especially since it is very common as we get older to have our aortic artery to lose it's elasticity and have aneurysms form even with people who do not have this genetic defect.   Checking for aortic aneurysms, especially for men within the abdominal regions should be done on a routine basis as of 60-65 years of age for it is not an uncommon finding in people in their late 60s early 70s.


Lisa

Yes, Joan, Ana makes a very solid point here and I fully agree.   A echocardiogram is often the very first attempt to see the aorta and a transesophageal is an excellent means for it gets a very good picture, however, being invasive, you would have to pre-medicate to protect yourself.   So, depending upon what your cardiologist would ask for, you have to consider these things.   Some doctors prefer the transesophageal echo because the picture is better and they can do a doppler of your heart too, but the regular echo, being from the outside, may be wiser considering that it´s not invasive.   If there is a sign of an enlargement of the aorta, then they will pursue other scans like an echo or MRI to see it better.   Yet, that contrast, is a KNOWN MC degranulator and always a risk procedure for masto patients even if they have done it without any major reactions.    Not everybody is as reactive to contrast as Ana and I are, but it´s important to avoid it at all costs if possible.   The less contrast, the better!

So, talk with your cardiologist and if you wish, seek out an angiologist for this is the doctor who takes care of looking at other possible vascular issues as well and this may be a good thing to do as a precaution for aneurysms can be in any part of the body and the older we get, it is natural for our blood vessels to weaken and in our 60s on up come more risks of strokes.  So, I think that an angiologist may be worth seeking out in order to do an overall vascular sweep for both you and your husband.  

If you´re going to do it Joanie, do it right!

Hugs!