Mast Cell Disorders Forum - Moving toward a diagnosis

05/19/24 at 22:34:34

	Welcome, Guest. Please Login
	We've upgraded to YaBB 2!

Home

Help

Mast Cell Disorders Forum › General Mast Cell Disorders Discussion › General Mast Cell Disorder Discussion › Moving toward a diagnosis

‹ Previous Topic | Next Topic ›

Pages: 1 2

Moving toward a diagnosis (Read 7127 times)

kirkmc

Rookie

Offline

Posts: 4

Moving toward a diagnosis
05/26/11 at 21:19:33

Some weeks ago, I posted an intro describing my problems. You all gave me a lot of help in understanding what was going on, so I'd like to give you an update.

I saw a specialist in internal medicine this week. While it was my GP who first mentioned the possibility of mastocytosis, he didn't want to order any tests, because he wasn't sure of what to do. The IM specialist, however, was very interested in everything I told him, and spent an hour with me going over symptoms and reactions.

He has me scheduled to go to the hospital early next week for a number of tests. He mentioned tryptase, and some other "very expensive" blood test (I live in a country with socialized medicine, so price is not an issue for me, but he just pointed out that it's very uncommon for him to order it), as well as a bone marrow biopsy. I'm actually impressed that he's moving ahead so quickly, because everything I read suggested that the biopsy was not something to do with the first round of tests.

But given my symptoms, he's convinced that what's wrong with me is a histamine-related problem. However, he is also wondering if I don't have a carcinoid tumor, which can also excrete large amounts of histamine, so he's doing blood tests to look for that as well, and may do a colonoscopy, depending on the results of those tests.

So he told me to stop taking my meds this weekend, then call him on Monday if I feel crappy; if so, I head right to the hospital, and he does everything then, with a possible stay overnight to do the colonoscopy the next morning.

Even though this doctor has never seen a case of mastocytosis or related illnesses, he did know a lot about it, and confirmed some things - probably tests - by checking on his computer. He's a very serious and curious doctor, and I feel that I'm in good hands.

One anecdote. I had mentioned that my GP suspected mastocytosis because he has a patient who has had mastocytosis for some 30 years. (She's a retired woman who lives in this area part of the year.) Well, a physical therapist I see also has her as a patient, and, it turns out that she was looking to buy a used computer, I have one to sell, and the PT put her in touch with me. So we met yesterday, and she told be about her symptoms. While she has skin issues that I don't, a lot of what she has is similar to me. At one point I wonder what the odds were of two people with (presumably) mastocytosis meeting more or less by chance in a village of 2,000 people in rural France... Given the prevalence figures I've seen (1 case for 150,000 people), that comes to a total of some 400 cases in France (population around 60 million).

IP Logged

Starflower

FORUM ADVISOR

Offline

Not a medical doctor
Posts: 715
Indiana

Re: Moving toward a diagnosis
Reply #1 - 05/27/11 at 02:11:53

Hi kirkmc,

Welcome back!

A baseline tryptase is a good indicator of your mast cell "burden." If your tryptase is low (let's say 5), chances are that you're not going to find an elevated number of mast cells in a bone marrow biopsy. If your tryptase is higher... 20, 30... it's definitely worth investigating. That being said, maybe your doctor has another reason for checking out your bone marrow? Personally, I had one to rule out Castleman's disease as the cause of the persistent swelling in my lymph nodes. Have your blood counts (CBCs) been normal? Usually, doctors wait until after your baseline tryptase to determine if they're going to do a bone marrow biopsy (BMB) or not.

I'm glad you found a new doctor who's willing to investigate! My only concern is that if your tryptase is normal and your BMB is normal, s/he is going to say, "Everything is fine!" and boot you out the door. You can't tell the difference between SM and MCAD with these tests, and yet the symptoms can be equally severe. The treatments are also the same. I wonder what that other "very expensive" blood test is... you shouldn't have to quit your medications to test for a mast cell disorder. Is s/he testing for anything else besides SM and carcinoid?

Good luck!
Heather

We're all in this thing together
Walkin' the line between faith and fear
This life don't last forever
When you cry I taste the salt in your tears
(Old Crow Medicine Show)

IP Logged

Lisa

FORUM MODERATOR/ADVISOR

Offline

I am not a doctor.
Posts: 1499
Volta Redonda, RJ Brazil

Re: Moving toward a diagnosis
Reply #2 - 05/27/11 at 03:20:17

France - you're in luck for France does have some authorities there - Dr. Hermine is one of them and in France there is about that much. France is pretty good and forward with masto and there's a number of excellent studies coming out of France, so you are very fortunate!!

As to your stopping your meds, on the norm, the authorities in masto tell us not to because for some of us, this can be dangerous. However, in your case this may not be so dangerous and may indeed be necessary. If you are still trying to rule out a few things, this can be necessary to do so, however, here's the thing - apparently, according to the masto authorities, our antihistamines don't interfere with our normal masto testing. It won't reduce the levels of histamine in our blood or urine for the antihistamines only block the histamines from affecting us - they are still being released regardless. This is why they won't interfere with IgE testing or with tryptase or urine histamine levels. They would only interfere if you are doing skin testing and most of these skin tests have nothing to do with mastocytosis testing. So, your doctor should not need to remove you from your medications.

As to the skin issues, we are all very different. I too don't have a lot of skin issues. I have more gastrointestinal issues than skin. Yet, I will produce rashes and flushing and if you remove me from my antihistamines, itching. Masto patients are KNOWN for being individual in their reactions - each one of us has a different combination of reactions, so this won't affect whether or not you have masto.

One word of caution - the normal testing for masto: tryptase, urine histamines, urine prostaglandins and a bone marrow biopsy can ALL come back negative and you can STILL have masto!! If your doctor is not up on this, he'll tell you that you don't have it and then send you packing!! He needs to know that there are other forms of the disease now and that some of us will indeed come back with full negatives on these tests and yet we still have a Mast Cell Activation Disorder. This new diagnosis - MCAD is so brand new that a great many doctors are totally unaware of it and in the dark. So, if you give me your email I'll send you recent information on some of the presented parameters that will help your doctor figure this out better.

I hope this helps!

Lisa

Don´t forget, there is so much more to life than being sick!

IP Logged

DeborahW, Founder FOUNDER/ADMIN Offline Posts: 1224 USA	Re: Moving toward a diagnosis Reply #3 - 05/27/11 at 04:27:49 The top mast cell disease specialists in the world ALL recommend that you NEVER stop your meds for testing. Any doctor and lab that knows what they are doing will know that the results will not be affected. You should rethink this....
Back to top	Feel well! DeborahW, founder IP Logged

kirkmc

Rookie

Offline

Posts: 4

Re: Moving toward a diagnosis
Reply #4 - 05/29/11 at 03:34:04

Hmm, well, I've stopped them for two days, and I feel like crap, but nothing worse than that. I'm having digestive problems, something I wasn't having before, and that the doctor asked me about. (How common are those with mast cell disorders? In the past, I had frequent bloating, but now it's abdominal pains.)

I'll be at the hospital tomorrow, so as soon as the blood tests are done, I'll take my meds again.

As for testing for other things, I'm not sure, other than the carcinoid tumor, what he'll be looking for. He seems to be a very curious doctor, so I have a feeling that he'll be checking for other things as well. It turns out that I have an MRI scheduled for Tuesday morning, that is unrelated - a nephrologist wants to look at my adrenal glands and renal arteries - but I'm wondering if there might not be other things to look for at the same time.

IP Logged

kimtg68

Guru

Offline

Posts: 545
Alabama

Re: Moving toward a diagnosis
Reply #5 - 06/07/11 at 14:53:43

Hey all! I'm still looking for answers and guess what? I'm going to Mayo in Florida. Lisa, could you email me that information to take with me? I was taking Zyrtec for seasonal allergies and stopped taking them just over a week ago and guess what????? I'm so itchy I'm going nuts! and my headaches are just awful!! My last investigation was lymphoma which is negative. Family doc is now sending me to Mayo. I'm so scared they aren't going to figure this all out and I'll be sent on my way AGAIN! I really want to make sure that all basis are covered.

So sorry for my long lapse on here. It's such a long story. Not a happy one so I'm going to skip it all.

Gotta go. More later.

IP Logged

Lisa

FORUM MODERATOR/ADVISOR

Offline

I am not a doctor.
Posts: 1499
Volta Redonda, RJ Brazil

Re: Moving toward a diagnosis
Reply #6 - 06/08/11 at 03:06:03

GREAT NEWS KIM!!!

You got Lymphoma ruled out! TERRIFIC!!! I'M JUMPING FOR JOY!!!!! Smiley

Now, as to Mayo in Florida, not good news, Kim. They're bad with masto. It's the Mayo in Minnisota which is good with Masto.

However, one of the girls here, Jared, has gone to Dr. Afrin in South Carolina and says that he's TERRIFIC with MCAD. If you are a masto patient, then you need a doctor who knows MCAD and of those who are not in Boston - Akin and Castells - the only others who are capable of doing a good workup with you are Scwhartz in Richmond, VA and Afrin in South Carolina.

I would STRONGLY recommend again to you Schwartz or Afrin, not the Mayo in Florida!!

When I wrote to Dr. Akin and Castells a while back asking for a reference of a masto doctor in Florida, they gave me the name of a doctor in Miami - NOT somebody who was connected to the Mayo clinic!! And we have patients here who have been through the Mayo grinder in Florida and come away empty handed! You would have to be a classic case of SM in order for them to recognize it and if you fall outside of that diagnosis, you are dumped.

So, please reconsider the consult for the Mayo clinic.

Again, Schwartz will see you without a diagnosis as long as you bring all of your records with you. According to Jared, Afrin is willing to work with you even before you see him. So, I would like to recommend him to you. Yet, again, if you have anything else going on with you that may be comorbid with masto, then Schwartz is going to pick it up.

Lisa

PS - WONDERFUL TO HAVE YOU BACK KIMMIE! I'VE MISSED YOU! Kiss

Don´t forget, there is so much more to life than being sick!

IP Logged

DeborahW, Founder

FOUNDER/ADMIN

Offline

Posts: 1224
USA

Re: Moving toward a diagnosis
Reply #7 - 06/08/11 at 07:19:22

I do have a question: why are we constantly saying that Dr. Afrin is great with masto when we only have one patient on this forum who has said they went to him and really liked him? I don't think it is wise to recommend a doctor unless we see evidence of many patients with positive feedback on him. It is one thing to say, "I went to him and I liked him." However, it is completely different thing to say, "This doctor ranks up there with the next best thing to the Boston specialists." We don't have any evidence past one patient of that (and we have 2 patients on this forum who said that his advice did NOT help them and actually made them worse), so I think we need to temper our enthusiasm about him until more evidence and first hand accounts appear.

Feel well!
DeborahW, founder

IP Logged

Lisa

FORUM MODERATOR/ADVISOR

Offline

I am not a doctor.
Posts: 1499
Volta Redonda, RJ Brazil

Re: Moving toward a diagnosis
Reply #8 - 06/08/11 at 08:53:10

Valid point, Deb! sorry! I realize that what you are saying is very true and will temper. However, the reason why I encouraged Kim to see him is for two reasons - 1. Since you know Kim has been with us for over a year now and STILL has not found answers, it means that if she has masto it's not a classic case cause the doctors are not recognizing it. She needs a doctor who can recognized MCAD, which he is the closest in her vicinity. and 2. My conversations with Dr. Molderings, who is the head author of that recent article by Molderings, Brettner, Homenn e Afrin, as well as other works published by Dr. Molderings has shown me that Dr. Molderings is indeed extremely knowledgeable as to mastocytosis and MCAD in particular. He is the author of the first published report on liver damage and MCAD patients. I believe that this publication was the very first performed on the MCAD diagnosis itself whereas all other works were either Systemic Masto or IA, not the MCAD diagnosis. This indicates that Dr. Molderings is on the forefront of the MCAD diagnosis and is looking at the larger picture of mast cell disorders instead of only the SM diagnosis like most of the other researchers are doing. The fact that Afrin is good enough to be included on this recent article says something, which is why I feel that we patients must recognize his undestanding of the disease.

Now, yes, I do agree, perhaps we run in too quickly before he's established himself with patients. However, I see one real practical hitch to all of this: The fact is that the Boston group has specific requirements as to seeing them and this is presenting problems for us. So, for those patients who can't seem to get anywhere with their own doctors and don't have enough information to get them in with the Boston doctors, then I think that Dr. Afrin is a great option.

But yes, we do need to have more feedback on Afrin and how well he works with patients.

Lisa

Don´t forget, there is so much more to life than being sick!

IP Logged

DeborahW, Founder

FOUNDER/ADMIN

Offline

Posts: 1224
USA

Re: Moving toward a diagnosis
Reply #9 - 06/09/11 at 02:14:59

My personal opinion is that there is no reason to think that he is a great option, due to the reasons I listed above. Just because this doctor attached his name to a doctor who impressed you, does not mean that he is a good masto choice simply by association. Unfortunately the evidence shows that in our 2 negative reviews of him, that he chose to prescribe meds that are too weak and not bothered with by the other experts and that his advice did not bring out any positive outcome.

It is important to not fall into the trap of when a doctor claims that he is a masto expert, that we assume he really is. Sadly, we see far too many doctors claiming they are just that, when, in reality, they don't even realize that they are just babies in the field.

I am sure that our debate will give other patients the ability to decide for themselves, though.

Feel well!
DeborahW, founder

IP Logged

Mike

Tutor

Offline

Danbury, CT
Posts: 28
Danbury, CT

Re: Moving toward a diagnosis
Reply #10 - 06/09/11 at 03:35:52

I'm laughing reading the last few posts. I personally went to a Dr. "highly recommended", this group is attached to TMS. Well, this 80 some odd year old man scolded me for being late (I had actually gotten there 15 minutes early), his vision was so poor he peeked his head out into the waiting room at least 2 times and didn't see me. He then marched me through the office to confront his office staff regarding what time I signed in. He said he wouldn't have much time for me. He laughed at me when I said I was on Quercetin and Luteolin (he actually said don't waste my time with supplements, take a one-a-day, I prescribe real medication).

Well..... this was obviously a monumental waste of my time (a full day with travel) and money, lots of money.

While being able to go to the "masto-masters" might not be an option for all, that might not be a tragedy. Find a Dr. with an open mind who can take direction from the likes of Drs. Castells of Teferi.

A hematologist (who is also a good friend) told me a story recently. His sister in-law was diagnosed with late stage lung cancer. He immediately brought her to the oncologist in his practice that treats all their lung ca patients. His family decided this wasn't good enough and brought her to Memorial Sloane Kettering (because of our proximity to NYC and MSK's obvious reputation), after an 8 hour wait in the waiting room (yes, 8 hour) she was seen by a nurse and brought into a consult room to speak to a fellow who then put her on the same course of treatment as was prescribed my my friends group a week earlier)

IP Logged

kimtg68

Guru

Offline

Posts: 545
Alabama

Re: Moving toward a diagnosis
Reply #11 - 06/09/11 at 03:58:47

Thanks Debra and Lisa for your open and honest opinion's. It really is important to know both sides and to make one's own judgement call from the given information. So how's this for my personal thoughts:

I am LOCKED into not being able to find answers. I have been investigated for lymphoma, lupus, scleroderma, sjogren's, carcinoid, Wegener's and almost a year ago a gastroenterologist tested my 24 hour urine and serum tryptase for mast cell which came back normal so he told me I did not have a mast cell disorder. I HAVE been diagnosed for tachycardia (which has been difficult for my primary doc to manage as it keeps changing after on meds for a month or two so he increases my dosage), chronic degenerative disk and Microscopic Colitis due to the lymphplasmatic infiltrates from my stomach all the way out the exit. The Microscopic Colitis diagnosis has been argued by other specialists so I'm not sure what to think about it. Again with this diagnosis I continue to have bowel/abdominal problems and am increasing dosage as I go along. I now have lymphnoid issues but oncologist says lynmphoma is not the problem and has been ruled out. My tongue often hurts, I feel like I have an almost contant lump in my throat and often feel like my larger pills won't go down, my bones and joints HURT, itchy, itchy, itchy (did I mention I'm itchy?)LOL I have many more symptoms but I would have to start a book to list them all.Now what I'm about to share is why I'm back to believing this is a Mast Cell issue. I have rosacia that was beginning to look ugly! My arm rashes were looking more prodominant as well. Spring came and we always open our windows for the fresh air. In years past that always caused me major upper respiratory problems. I used to get upper respiratory infections multiple times per year. My last one, remarkably, was August of 2009. But this past spring I decided to take Zyrtec since night time was bringing drainage down the back of my throat and causing coughing. No infection just coughing. I hadn't realized that my itching had diminished and my rashes were getting lighter......UNTIL we closed the house back up since temps were reaching 3 digits and I stopped taking the Zyrtec. Holy ITCHY BATMAN! I went nuts itching and digging again and then realized it had almost stopped while on the Zyrtec. So this is why I'm back to wondering about the Mast Cell issue.
Now my thought is.....I am up against a wall with local specialists. NO ONE can diagnose me. Perhaps if I could just find the closest Mast Cell doctor to at least just get me diagnosed then if I'm not happy with treatment (IF it turns out to be a Mast Cell issue) then I can seek out one of the TOP specialists. I think at this point the most important step is to GET A DIAGNOSIS! PLEASE GOD! I really need to find out what is going on with my body and health and THEN procede with finding the proper treatment. We can't fight an enemy if we don't know what that enemy is. Right?!
So with all this said, I would love to hear your comments and thoughts. Do you feel Dr. Afrin is adequate enough to make a dianosis? I understand the lack of assurance that he may not understand proper treatment. Please share what you think with me. I truly appreciate it!

Kim

IP Logged

kimtg68

Guru

Offline

Posts: 545
Alabama

Re: Moving toward a diagnosis
Reply #12 - 06/09/11 at 04:22:56

PS: A couple things to add. I was also diagnosed with H.Pylori and treated. Also got some sort of bug bite over night on my neck and it took a month for it to clear up. I still have a small red spot where it was. I get boils that leave ugly purple scars inside my left thigh. When exposed to the sun/heat/shower my arms and neck get red splotchy rashes. I constantly look like my lower neck/upper chest is sun burned (flush?) and I sweat in this area nightly to the point of drenching my shirt collar and underneath side of my hair. Was also diagnosed with Reynauds. My legs look like purple maps which resembles livedo reticularis (sp?) but has not been diagnosed. It worst when I'm cold. There I think that does it. I'm going to start a new topic on some blood work results and CT scan. Hope to see you there:)

IP Logged

DeborahW, Founder

FOUNDER/ADMIN

Offline

Posts: 1224
USA

Re: Moving toward a diagnosis
Reply #13 - 06/09/11 at 06:07:57

Kim,

Personally, I think it sounds as if you have a mast cell disease. Those of us who test normal to everything still have it; we just get the differentg label of MCAD or IA or whatever depending upon our specific symptoms and responses to treatment.

Really, none of us can answer your question regarding Dr. Afrin, as we have not had first hand experience with him. I would advise you to look under the "Doctor" category on this forum. You will see one on Dr. Afrin. Send a private message to each of those people who were his patients. (I thiniki that thread only has 2 and somewhere, there is a third person on the forum who recently wrote about him. I will try and find that for you. Your best bet is to private message each of these 3 patients and ask them their opinion. It is better than nothing....

I hope that you are back on the zyrtec, as it clearly helps you. I take an allegra in the morning and a zyrtec in the evening, and that really helps! I used to be super itchy even with that, so Dr.Akin had me take singulair and that eliminated the final itchiness. I no longer have to take the singulair, but I do take the zyrtec and allegra (and zantac for GI symptoms).

If I find that 3rd person, I will private message the info to you.

Feel well!
DeborahW, founder

IP Logged

Lisa

FORUM MODERATOR/ADVISOR

Offline

I am not a doctor.
Posts: 1499
Volta Redonda, RJ Brazil

Re: Moving toward a diagnosis
Reply #14 - 06/09/11 at 09:31:05

Yes, Kim, I agree with Deb, you sound masto to me too!

As to this doctor issue, I fully understand Deb's caution and have no problems with what she's saying, however, I know the endless running around in circles you've been going through and you MUST have someone who KNOWS MASTO. So, I'm going to back up and say, do not go to Afrin as your first choice, but you need to go see Dr. Schwartz! Schwartz is an immunologist, recognizes and knows MCAD and is a recognized and proven AUTHORITY. He is one of those experts who were part of the WHO consensus meeting on MCAD last year and so he KNOWS MCAD as well as he knows classic mastocytosis! You've also got too many autoimmune related issues going on with you Kim, to not keep these in mind. You need an immunologist! Afrin is a hematologist and you may need someone who can think along the immunological lines instead.

So, please consider giving a call to Dr. Schwartz, Kim. Set up an appointment. It's time to go to the VERY TOP, my dear and not fiddle about any more. You're tired and I can sense how emotionally exhausted you are by all of this running around and it's time to get off of this doctor merry-go-round and see an authority and since you can't just walk up to Akin or Castells and get in to see them, then Schwartz will see you without any problems. He told me that he doesn't have any prior requirements nor need a referral, he only asks that you bring your prior records with you. So, the door is open to seeing him.

In the meantime, in response to what you have learned with the zyrtec, perhaps you want to speak with your doctor and consider going on antihistamine therapy instead. If one zyrtec gives you that much relief consider going on a combination of zyrtec and zantack twice a day and see how this changes things for a couple of weeks. Talk with your doctor about this and just try it for a bit. This is what we masto patients generally take and perhaps it will give you some improvement. If it does, this is indeed indicative of masto!

Lisa

Don´t forget, there is so much more to life than being sick!

IP Logged

Pages: 1 2

‹ Previous Topic | Next Topic ›

« Home

‹ Board

Top of this page