Hello.

I've come here to ask some questions and get some information. Here's my story.

A couple of months ago, I had an incident when I was out walking, and I felt my hands start swelling. When I came home, I could feel this swelling throughout my body. It wasn't visible; there was no edema. But it lasted for a while, and the next day, I felt it again. At the end of the day, the feeling increased, and, thinking it was an allergic reaction to something, I took an antihistamine, and it got slightly better.

The next day I went to see my GP. He said he thought it was some kind of allergy, and gave me some cortisone. I took that for 4 days, and the swelling went away.

A few weeks later, the same thing happened, and it seemed that walking set it off. Back to the doctor, who was, by now, intrigued, and who ordered a bunch of blood tests to check for allergies. Another episode - after the tests came back negative - led him to start wondering about this problem, and he mentioned that he no longer felt it was an allergy, but mentioned mastocytosis, because, oddly enough, given the rarity of the disease, he had a patient affected by it.

So, recently, this swelling feeling has been occurring pretty much every day. I notice the feeling first in my fingers - I write for a living, and type a lot, so when my fingers are affected I feel it right away. Then the feeling spreads to my feet, and sometimes I get a kind of antsy feeling all throughout my body. Antihistamines seem to reduce it a bit, but not entirely. I've noticed some triggers that increase it, such as red wine. It generally begins late morning, and waxes and wanes during the day, usually being strongest at night.

Looking up some info about mastocytosis, I've seen a number of symptoms that I've had, some for a long time. I have some other issues - notably a neurological problem, which certainly has no relation - but so far it seems this has something to do with histamine.

I'm fortunate to have a very good, very curious GP; this is rare where I live (in a rural area). He's going to look into this as much as he can. But I'm trying to find what sort of differential diagnoses could be in play. It seems that there are actually very few diseases that lead to increased histamine, and, since I do feel a reduction in symptoms when taking antihistamines, it seems likely that this is the cause.

So, what should I - and my doctor - be looking at? What other conditions could lead to this, if it's not mastocytosis? What are the main tests that are used to diagnose this?

Thanks for any help you can offer.

Hi kirkmc,

Welcome to the group!

It sounds like your symptoms are more annoying than disabling or even life-threatening (which is good!!).  At this point, there are two things I would recommend to you...

1. A basic physical... are you generally in good health?

2. A baseline tryptase, which is a blood test that can be done at any time.  A normal level doesn't completely rule out mastocytosis, but it would certainly make it a less likely explanation.  

Has anyone in your family ever had swelling like this?  (Ask, don't just assume).  If so, then I would also ask to be tested for HAE, starting with complement levels.  However... if the swelling goes down when you take antihistamines, then HAE (hereditary angioedema) is not the cause.

A lot of unrelated things can cause mast cell symptoms... cancers, autoimmune disorders, chemical exposures... that doesn't mean you have mastocytosis.  Everybody has mast cells.  On the other hand, sometimes people with indolent SM have rather subtle symptoms for decades before they get a diagnosis.  All you can do is just get the baseline tryptase and see if anything turns up.

It's great that you have a GP who's willing to work with you and look for answers!  As your test results come back be sure to get copies... you're always welcome to post them here to get our feedback.

Heather

Hi Kirk and welcome to our forum!


I think it's very intriguing that you call yourself a "lapsed" American!!  haha!!  Very interesting way to say that you've been living abroad for a while.  I guess that makes me one too because I've been living in Brazil for over 20 years, but I don't feel lapsed, well, except when the brain fog sets in, however! haha!!     Brain fog is another word to say cognitive difficulties when we begin reacting.  

Kirk, you are in good luck, France has a masto authority, Dr. Olivier Hermine and I've got his email and cell phone number.  I'm going to give it to you in a PM and you can try writing to him.  

Also, I will send you the contact information for Dr. Luis Escribano of Toledo Spain.  Dr. Luis has a mastocytosis research center and is one of our highest authorities in this disease.

I've only spoken with Dr. Hermine only once, so I can't tell you how he is, but Dr. Luis is tremendous is will do everything he can to help figure out what is going on with you for he not only knows well the SM - systemic mastocytosis diagnosis, but he also knows the harder to find forms of the disease including the non-clonal form.  He's really an excellent doctor and won't leave a stone unturned.  So, for my money you'd be better off going to Toledo, if you can.

As to your symptoms, they do sound like masto, but it is important to do a check out for the other things that Josie mentions.   Let me list them for you for she misspelled a couple of the exams.  They are hard to remember and confusing since most of us only go through them once.  Most of us who do not have any skin lesions end up going through these tests looking for the differencials and I went through the search for the carcinoid syndrome TWICE and even then kept my masto specialist on pins and needles until we had firmer proof.

The tests for Carcinoid Syndrome are:

24 Urine - 5-HIAA  this is for methyl serotonins
Blood Serotonines
Chromogranin A - CGA

If any one of these are high, then more testing looking in the direction of the Carcinoid syndrome is needed.  However, I do not believe that this will create this angioedema you are experiencing.  So I tend to think that it's not really necessary except for the purpose of ruling out yet one more disease

As to the pheochromocytoma, this, and the carcinoid tumors are called Neuroendocrine tumors and they secrete hormones that cause all kinds of reactions.  The carcinoid tumors are the tumor which gives off a constellation of symptoms that mimicks mastocytosis so very closely that there is often great confusion amongst doctors.  My oncologist had a really tough time with me since I get hypertensive in a crisis, which mimics the carcinoid crisis - it took a while for us to find out that mastocytosis can create hypertension in anaphylaxis.  However, once the crisis is over, the pressure should return to normal.  

Yet, Josie's suggestion of the pheochromcytoma, although it does not produce the same constellation of symptoms as the carcinoid does, is a very valid suggestion since the neoendocrinal tumor is connected to the adrenal glands and this is what pushes the pressure up and it would not only be increased on a daily basis, but also go even higher in a crisis.  I believe that Josie's correct in that the catecholamines must be tested, but in truth, Kirk, what you need to do for this investigation is to find an expert in neoendocrine tumors because these tumors are rare and there is a whole battery of exams which are used in complement to the major markers for these tumors.  They are very difficult to find and challenge even the experts.  I was seen by the two highest authorities in these tumors here in Brazil and my case confused them totally, but then, it should have been for although all of my symptoms lined up with the carcinoid syndrome, not a single test they did came back altered!!  Why?  Because I've got mastocytosis.  In order to find a rare disease, you have very few exams which will point to the disease and unless you KNOW what you are looking for, it's way too easy to miss it!!!  

Here, I'm going to make this easy for you, since I've already been down this path.  If you go onto the ENETs webpage: http://www.neuroendocrine.net/excellence.html
you will find that they have listed a hospital in Paris which has become a research center for these tumors.  Send an email to the people on the site asking for the contact information of these doctors, for they don't list it.

You can also go to the Carcinoid Cancer foundation which is an EXCELLENT site for support and information.    http://www.carcinoid.org/patient/treatment/find-a-doctor.  If you will scroll down you will find a doctor listed in Paris and can write to him.  I know some of the people at the Carcinoid center foundation site and they are extremely helpful.  

If you were to write to the doctor that is listed for France, and described some of the symptoms you are showing, he may be able to help you to know whether or not you really had to go to see him.  His name is Philippe Ruszniewski and they list his email.  As I said, I don't know that angioedema is one of the symptoms going on with NETs , but who knows.  As to taking antihistamines and improving, this is not a sign that it is only mastocytosis or angioedema going on with you for these NETs do have histamine involvement and those patients must take antihistamines as well.  Like I said, it take an EXPERT in these tumors to investigate you properly.  Any old oncologist can't do it for they are extremely difficult and even those who are authorities in the disease have found themselves challenged by cases.  So, it's worth investigating Kirk.

As to the masto tests, yes, tryptase is one of our major markers, but there are now recognized forms of masto which the high tryptase is not a marker.  This has made the researchers/authorities take another look at this marker as well as the disease and they are finding out new things about the diagnostic processes as well as the forms of masto that they hadn't considered before due to this discrepancy amongst masto patients.

The problem with this disease, Kirk, and that which challenges the doctors is that not every patient who has the disease will consecutively show every marker.  And example is my case in that my tryptase is normal, but my urine histamines are high, my blood and urine serotonin levels are way below normal and I have no way to test the prostaglandins.  My case is very difficult and it was only through the pathological testing of biopsies that we found the answers.  Not the normal case, but an example of how difficult it is to work up this patient. Only a few doctors really know how to hunt down masto and this is why unless you are in the hands of a doctor who REALLY knows it well, you won't find your diagnosis.  I was in th ehands of an immunologist who had treated only 3 patients before I showed up in his office, but he had never diagnosed one before.  He got totally lost with my case and didn't know whether or not to proceed with the hunt.  I found a masto specialist and she knew how to do it.  She is a dermatologist/pediatrician and encountered a number of the children who are the great majority of masto patients.  

As Heather said, it's great that you've got a GP who has already encountered a masto patient for if it is that you have this, then your doctor can continue taking care of you after it's been found.  However, this doctor is also able to seek out for other things and rule out a bunch of issues, helping to narrow down the field.  But again for these two diseases, that of mast cell disorders and neurendocrine tumors, you need to find experts to do this workup due to how very difficult it is to diagnose.   But, there's still other things that must be hunted for in your case and I have confidence that they will find it.  

As to the low potassium and vitamin D, yes, this is found in masto patients, but it will be found in also the NETs patients - any disease which creates malabsorption will do this.

As to the reflux, this is also what I've got and this is typical for masto patients - our histamine levels are so high that it hikes up the gastric levels in the stomach.  I was tested with a Phmeter and my reflux was found to be only during the day, something very unusual and it ruled out a number of other possibilities.  Now that we know it's masto, it makes sense for when you are most active, while awake, you are constantly calling your mast cells into action and they are constantly dumping histamines.  Thus the reflux only during the day.

I hope this is a help to you, Kirk.   I'll PM you now with those contacts.

Good luck!!


Lisa

Lisa,

Thanks so much for all the info. I'm going to research some of what you've said, and talk to my doctor as we go on with the tests.

Interestingly, you mention adrenal glands. I have a CT scan at the end of the week to look at them. The nephrologist I'm seeing is very confused by my low potassium - it's not very low, as could occur with certain tubulopathies (I was actually diagnosed with something called Gitelman's syndrome some years ago; I went to Paris to see a specialist in that disease, and he said the diagnosis was wrong, that my potassium wasn't low enough). So the new nephrologist wants to see if there's anything in the adrenal glands, and he's looking at the renal arteries as well. And he's also doing some blood tests that can only be done in the hospital. But the low potassium isn't a malabsorption problem; my urine potassium is high, so it's clearly coming in, then going out through the kidneys.

It's worth noting that when I have these swelling symptoms, my BP does not go down. I've had my doctor take it, and I've taken it myself at home.

Thanks again. A lot to read about and understand...

Kirk

I don't have diarrhea. Is that a "deal-breaker" symptom for mastocytosis? (Ie, one that everyone has?)

I made a list of the symptoms that I do have often enough that they seem to be continual. Some only started in the past couple of years. I've left in a couple of symptoms that are most likely caused by a neurological condition I have:

Arthritis
Muscle contractures and spasms
Dizziness
High bone density
Vitamin D deficiency
Low serum potassium
High urinary potassium
High blood pressure
Cold hands and feet
Essential tremor
Tinnitus
Weight gain
Acid reflux
Bloating
Hot flashes
Ammonia/chlorine smell in nose
Allergic reactions, with swelling and irritated mucous membranes, mediated by cortisone and/or antihistimines
Occasional itching with no visible lesion
Occasional eczema

The potassium is not very low - it's been as low as 3.4 or 3.5, and recently it was 3.7. But the nephrologist is slightly concerned since he can't figure out why I'm losing potassium through the kidneys.

Back in 2002, when this was discovered, I had dozens of tests to try and find out what was wrong, and, as I said above, was diagnosed as having Gitelman's syndrome. But that's not what I have. At the time, everything was tried - taking magnesium, taking potassium, but neither of them raised the potassium level. Interestingly, it was around this time that I found I had a vitamin D deficiency. When I started taking daily vitamin D supplements, the potassium went up. Recently, both my vit D and potassium were low, but the nephrologist I'm seeing now doesn't believe there is a link.

As for diarrhea/constipation, no, I don't take anything that would go either way. I do, however, eat a bowl of muesli every morning for breakfast, and have rarely been constipated, in part because of that (at least that's my opinion).

I have physical therapy for the muscles, and my general back pain. I have a mild scoliosis, along with arthritis (osteo) in several locations.

Dang, reading all this makes it sound like I'm falling apart. It's not that bad, really!

Flushing can be caused by a variety of things. For most of us here, it us due to mast cell activation. However, there are actual conditions that also cause that. For example, I also have rosacea. That causes flushing, but I would say that when I flush, mine is from my mast cells degranulating. How can I tell? Once I started histamine blocker meds, my flushing diminished. If I trigger up mast cell wise, I will immediately flush. However, I will pop a zyrec or allegra and the flush will disappear within minutes. So, that tells me it is from mast cells in my case.

Josie mentioned a variety of allergy and anaphylactic types. That really won't concern you if you have mast cell disease, because the specialists look at it in more simple terms. You are either triggering or not. You are either going into anaphylaxis or not. If you are doing either of those, then you figure out what meds will stop a flare; what meds will prevent triggering, what food and lifetime changes you need to make, and what your particular triggers are.

We don't want to get overly complicated because it just doesn't apply here and the simple list I just made will get the job done and help one to get back to enjoying life. I am glad that you have found us, because there are many people here who can share their own experiences and give you suggestions. Years ago I was one of the sickest mast cell people around. Now I am probably one of the healthiest. It all revolves around educating yourself, finding the right specialist, and taking charge of your own destiny.

Thanks for the heads up on different antihistamines. I was first taking loratadine, which didn't do much, then rupadatdine, which does a bit more. I didn't know that certain antihistamines would be better.

For now, I've been taking the latter daily, because the symptoms, which initially were every few weeks, are more or less daily.

However, this week, I'm taking some different meds. I have a CT scan on Thursday (for my adrenal glands), and the protocol for anyone with allergies is to take antihistamines and cortisone for three days before the scan (because there will be an injection of an iodine-based contrast medium). So I'm taking desloratadine in the morning, and hydroxine in the evening, along with 3 x 5mg of prednisone.

After that, I'll go back to my GP and talk about trying different antihistamines.

One thing - you said that with the two meds you take, symptoms are relieved in minutes. My experience with the rupatadine, which is the one I've taken that works best, is that it takes an hour. Do the others really work that quickly? Are they not in tablet form?

As for anaphylxis - are there different degrees of this? In other words, would my swelling be considered anaphylaxis, or is that only when it gets more serious?