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New member with no diagnosis, yet (Read 8597 times)
Kay
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New member with no diagnosis, yet
07/21/15 at 09:58:32
 
   
Hi Everyone,

I am new as a member here, but have been reading forum posts for a while. Like most of you, I have been doing my homework reading everything I can find that might be relevant to my case, both from the doctors' and patients' perspectives to get a better understanding of what is going on with my body.

As of yet, I do not have a diagnosis.

Background information would include decades of allergies to many things with a long and growing list that includes various plants, animals, dust, metals, medications, foods and contrast dye. For many years, I endured the misery of shots that would leave my arms very swollen and bruised and me sick for at least 24 hours, and this was on smallest doses.  I quit immunotherapy after having an anaphylactic reaction to a shot about ten years ago. It just was not worth the price.

Then eight months ago, I started having problems with tachycardia so I went to a cardiologist. At the same time I was having problems with GI and other symptoms, but thought it was something separate that I could deal with when the heart issue was figured out. The cardiologist was of no help telling me it was a normal, but fast heart rate, a nuisance to learn to live with.

Since all the other symptoms seem to be clustered with the tachycardia and most of my problems seem to be allergy related, that is where I went next- allergist.

My reactions are to foods that are known allergens, foods that are not allergens, contrast dye, heat, exercise, NSAIDs and other meds. Reactions include a wide range on the sliding scale from mild anaphylaxis to moderate, but no hospitalization to document episodes. Long list of symptoms involving 4 of 5 organ systems but without skin involvement except as flushing.

Symptoms include: flushing, tachycardia, headache, lightheadedness, pre-syncope, tinnitus, nasal congestion, nasal itching, itching in mouth, itching in throat, itching in ears, itchy hands, itchy feet, sore throat, stomach pain, cramping, nausea, diarrhea, gas, bloating, oh and "brain fog".  These symptoms are much  milder or infrequent on now that I am on higher doses of antihistamines.  There is almost never a symptom free day- just some better and some worse.

When this first started with the tachycardia, and before taking higher doses of antihistamines, there were many times I should have used an Epi-Pen, but the presentation of symptoms has been so different from my first experience of anaphylaxis with the allergy shot that I did not recognize if for what it is. With the allergy shot, the cause and effect was obvious. But when your heart, which is running a race, wakes you up in the middle of the night, you feel overheated with the air conditioner on (but no sweating),  with your gut in knots, and what feels like a sudden cold. No, it is hard recognize as the same thing. Fortunately, my allergist did and he gave me an Epi-Pen prescription and ordered tryptase tests and sent me to another allergist.

Now, I am up against a wall because my tryptase test results (lowest at 13 and highest just below 18) put me just outside mast cell disorders parameters even though my symptoms are consistent with a mast cell activation disorder and I have had a good (but far from perfect) response to H1 and H2 antihistamines. Staying away from known triggers does help.

Since there is no mast cell diagnosis, I am left doing the rounds with various doctors to rule out differential diagnoses. So far, carcinoid tumor is ruled out. And after they are all crossed off the list, where will that leave me?

From what I have read about mast cell disorders, I  believe that my allergist was right in suspecting mast cell disorder, but with another doctor saying I am outside the parameters it leaves me without any where to go except to continue the ruling out differentials. And maybe in the meantime, if things get worse, my numbers will reach a point that they fit the parameters.

I keep thinking that at the rate that at which mast cell disorders keep getting redefined and broadened, maybe I won't have to wait too long. Meanwhile, I am glad that I have an allergist who listens to me and is working with me on helping to keep my symptoms under control.
I would love feedback from other members. It is wonderful that there is a forum for people with mast cell disorders (or might have), but sad that there are so many that are ill with this supposedly rare disorder to need a forum.

I wish everyone of you well.

Kay
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Joan
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Re: New member with no diagnosis, yet
Reply #1 - 09/04/15 at 05:31:33
 
Hi Kay,

Just saw your post, and it doesn't look like you've heard from anyone.

There isn't agreement among doctors about parameters for elevated tryptase for mast cell disorders.  To some mast cell specialists, yours is high enough for diagnosis.  

I would recommend seeing a mast cell specialist who can review your testing and symptoms and prescribe meds for you.  There are some medicines that are mast cell stabilizers and others that are anti-inflammatory and others that can help other symptoms.  Your onset and symptoms sound pretty classic, and I had the same onset of tachycardia and flushing and other symptoms that you describe.  An allergist called it idiopathic atypical anaphylaxis until, I was finally diagnosed years later.

If you can't find a specialist in your area, please post your location asking for a referral. The primary center for research is in Boston at Brigham and Women's hospital.  Dr. Cem Akin and Dr. Mariana Castells are perhaps the best known of MC doctors, but there are other docs around the country who are knowledgeable and treat MCAD patients.  

Good luck!

Joan
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Re: New member with no diagnosis, yet
Reply #2 - 01/01/16 at 08:17:00
 
Hi Joan,
Thanks for the reply. It was a mast cell specialist that told me I was outside the parameters. He told me to get the tryptase checked every 6 months and if it goes over 20, then come see him.
I have been to various specialists to rule out differential diagnoses. There really is nothing left on the list that would explain the symptoms and the elevated tryptase levels.
I have also been given the label of idiopathic anaphylaxis by my regular allergist. Since my intro post, I have also had reactions to contrast dye for both MRI and CT. The second one was much milder due to premedication. For the first one, the technician did not even believe me when I told her I was having anaphylaxis. She kept assuring me I was just nervous, this is after having told her that I have slept through MRIs before.
Fortunately, I am not currently having problems with tachycardia and some of the other symptoms are milder or not as frequent, but I still have a myriad symptoms to deal with on a daily basis. I am stuck the place of being not well, but not sick enough for whatever it is to be recognized.
Over the years, I have had problems with various joints requiring surgeries: things like torn tendons, bursitis, scar tissue, tendonitis. Is this common among the mast cell patient community?
Kay

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Re: New member with no diagnosis, yet
Reply #3 - 01/08/16 at 17:25:45
 
Hi Kay,

It looks to me as though you almost definitely have a mast cell disorder, as long as other causes of flushing have been ruled out.  Have you been tested for pheochromocytoma?

Some mast cell specialists believe that tryptase over 1, with the symptoms you describe, indicates a mast cell disorder.  Some ranges I've seen from the major lab companies say anything over 11 is a mast cell disorder, so 18 is definitely out of range.  Some people with MCAS have normal tryptase.  A specialist would have to check to see whether you have a mast cell activation disorder alone or if you have systemic mastocytosis.  This can be confirmed with a bone marrow biopsy, if you chose to do that, but it shouldn't be necessary in order to get a treatment plan.  You might want to see one of the major researchers, as it doesn't seem like your current meds are keeping your symptoms under control and the doctor you consulted doesn't seem interested.  The top specialists are in Boston, Minnesota, California, Texas, and other places.  I was diagnosed in Denver after one low tryptase test and 16 years of the same symptoms you have.

There are other meds besides antihistamines that might be helpful, such as Singulair, mast cell stabilizers such as Gastrocrom or Ketotifen, and some others such as turmeric extract, quercetin, and more.  

There are things you can try with an elimination diet, such as the low histamine diet or any other one that has you stay on limited foods for at least 10 days and then has you add back foods every 2-3 days to see if you react.  Keeping a food and symptom diary can help you discover other specific triggers, although it sounds as though you've done a lot of that already.

It's very important for you to see someone who will believe you and understands how to treat mast cell disorders.  Many of us take far higher dosages of meds than listed on the labels.  It can lower your stress level a lot to have somebody on your side who will help you try different meds, and it's important to trust yourself that you know to avoid your triggers.

To answer your question, some people who have MCADs also have Ehler-Danlos Syndrome, a group of connective tissue disorders.  Some have POTS which is an autonomic nervous system disorder which can cause tachycardia, lightheadedness on standing, and other symptoms.  I believe a rheumatologist would diagnose the Ehler Danlos, and a neurologist for POTS.  I'm sure I have POTS but couldn't see a reason for a real diagnosis because staying well-hydrated alleviates my symptoms.  There are meds, though for people either more severe symptoms.

You probably already know that it could be dangerous for you to have any more contrast dye.  If it's absolutely necessary, then look on the TMS website for the protocols for pre-treating, if you haven't already seen them.
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Re: New member with no diagnosis, yet
Reply #4 - 03/12/16 at 12:17:12
 
Hi Joan,

Thanks for responding. Sorry, I had not checked the site in a while, so did not know you had responded.

I am still in limbo. I still have symptoms, still have tryptase levels above normal, but not high enough (for the specialist that I went to), and still no answers.  

Instead of the tachycardia that I was experiencing, I now have problems with bradycardia, sometimes dropping into the 40s. But most of the symptoms are still there, just some not as strong. I do try to stay away from known triggers. GI is still a mess and I still have flushing (without sweating), overheating, headaches, migraines, joint problems (really bad these days), hands that swell at night, feet that hurt and are red at night and when get up in the morning, periorbital swelling when get up in morning, a rash that won't go away (being treated by dermatologist). And more recently, I've  added a couple weird symptoms: multiple episodes of goosebumps on one side of body only, a couple episodes of pupils of different sizes and several episodes of garbled speech.
Lately, the joint problems have been flare-ups of bursitis in both hips and sciatic pain. Also problems with  neuropathy with numbness or pain down into hands (the latter might be related to an old neck injury).

I do keep a daily log of symptoms, but have not been keeping track of every bite I eat, just when it seems that a particular food or medication has caused a problem.

My regular allergist is still baffled as to why I have an above normal tryptase( just got it checked again and it was 17.0 when not symptomatic) and I am still having problems reacting to things that I am not allergic to in addition to the things that I am allergic to.

As to other causes of flushing, I believe just about all the differentials have been ruled out by an endocrinologist, including pheochromocytoma that you mentioned. So, what is left?

I have also seen a nephrologist, who specializes in POTS, who said he does not believe I have POTS. But one of the cardiologists that I saw told me that I do experience neurocardiogenic syncope (AKA neurally mediated syncope  or vasovagal syncope) which is a form of dysautonomia. Mine is triggered by heat, standing too long or standing up too quickly and some medications.  I was advised to drink more fluids and eat salt. It has brought my blood pressure up enough that I rarely have presyncope symptoms.
Thank you for mentioning caution with contrast dye. After the first reaction with the MRI, my allergist ordered premedication and a crash cart to be at hand when I needed a CT with contrast.  Even so, I did have a mild delayed reaction late in the day.

I find what you said about tryptase level very interesting:  "Some mast cell specialists believe that tryptase over 1, with the symptoms you describe, indicates a mast cell disorder.  Some ranges I've seen from the major lab companies say anything over 11 is a mast cell disorder, so 18 is definitely out of range.  Some people with MCAS have normal tryptase."

The minimum values thing has been a stumbling block for me before. I have had problems with low blood pressure symptoms for decades, but have always been told that I have great readings, often at 90/60. Not until it dipped below that at the doctor's office, would anyone believe or acknowledge that I have symptomatic low blood pressure. In other words, it was not a problem until the numbers said so.

You stated that: "You might want to see one of the major researchers, as it doesn't seem like your current meds are keeping your symptoms under control and the doctor you consulted doesn't seem interested.  The top specialists are in Boston, Minnesota, California, Texas, and other places." but you were not specific as to whom to see. So, could you or other members please tell me names of mast cell specialists who are flexible on the interpretation of tryptase levels? Someone preferably in the mid-Atlantic coast area as I live in Virginia.

Even though I would rather not have a mast cell disorder, if that is what it is, I would like to know and get appropriate treatment.

Thank you for answering my question about mast cell patients having joint problems letting me know that some mast cell patients also have connective tissue disorders.  I have an upcoming appointment with a rheumatologist next month about all the joint issues. It will be interesting to see what he says, but I have no expectation of anything productive coming from the appointment.
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Re: New member with no diagnosis, yet
Reply #5 - 03/12/16 at 20:37:50
 
Hi Kay,

We have out of town company, so I will try to reply tomorrow or Monday.

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Reply #6 - 03/15/16 at 18:59:53
 
Hi Kay,

First of all, I, too, have had good luck with a low histamine diet.  If I get too far off it, I can pay with more symptoms.  But, I've also found foods on the 'avoid' list that I can tolerate without a problem.  I just have to be careful, like Julie, that I don't overdo it or do it two days in a row.

About doctors in your area, the ones I'm most familiar with are Dr. Cem Akin and Dr. Mariana Castells, both of whom can be seen at Brigham and Womens hospital in Boston.  They run a mast cell disorder clinic and treat both SM and MCAS patients.  They are experts in the field, and I would recommend going there if you are able to travel.  You could be confident of whatever diagnosis you received, and you would get a treatment plan as well.  Dr. Lawrence Afrin is also excellent, but further away, in Minnesota.  There is a doctor, Dean Metcalfe, at NIH in Washington, DC, who also is a masto researcher, but I don't know if he requires patients to have a diagnosis before he sees them.   You could call his office and find out what is required before seeing him.  If you find that appointments are being scheduled too far out with any of these docs, another option is to have one of your doctors call one of the experts and work with them to help you.

There are some recommendations for doctors in a different thread on this forum, made by people who have seen them.  One or more might be closer to where you are.  You also might want to check on the TMSforacure.org website to see if any of the board members are nearby or if they mention any other doctors who are knowledgeable.

I hope you can get some definitive answers soon!
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Re: New member with no diagnosis, yet
Reply #7 - 03/16/16 at 13:00:25
 
Hi Joan,

I am glad to hear that a low histamine diet has worked for you and Julie. That is encouraging.

About doctors, do you know or does anyone else in this group know if Dr. Castells is willing to consult with someone's doctor who does not yet have a diagnosis and is not one of her patients? I thought I had seen in an old thread from about 6 years ago that she had communicated with someone's doctor to help with treatment.

Thank you,

Kay

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Julie M.
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Re: New member with no diagnosis, yet
Reply #8 - 03/17/16 at 15:10:39
 
Hi Kay,

I read over your intro...sure sounds suspicious that you have some type of MC disorder.  Getting a diagnosis (including rule in/rule out other possible culprits) can be an ordeal, so hang in there!

I really relate to your history with allergy shots, my experience was exactly the same as yours.  When I decided to give them one more try as an adult (many years ago) I started wheezing on the very first set of injections.  I walked out and vowed never to put myself through that misery again!

You mentioned that your doctor (the MC specialist I believe) said that you were "out of the parameters" for a MC diagnosis.  Is he/she merely referencing your tryptase level, or did they consider the complete diagnostic criteria for either mastocytosis or MCAS when they said this?  Tryptase is but one factor to be considered when going through a diagnostic workup, so I'm kind of curious what all they were considering when they made this comment to you. If you don't mind perhaps you could share what type of mast cell specific diagnostic workup you've been through.  (labs, biopsies, etc.)

As for your doctor question, I know historically that Dr. Afrin would take calls/emails from other physicians who were seeking consultation on MC issues.  My neuro called him a few years ago with a MC question re: meds and Dr. Afrin was happy to consult.  I certainly can't speak on behalf of Dr. Afrin but my guess is that he would speak with or exchange emails with your physician, especially if your physician was seeking guidance on how to next proceed with you.  Dr. Afrin typically returns an email within 24 hours, so unless something has changed, your doctor won't be sitting around for weeks waiting for a reply.  

In terms of a doctor in your area, well, there aren't many.  I live in Maryland, just a few miles from DC, and there aren't any true MC experts (IMO) in the DMV.   My understanding is that Dr. Metcalfe sees only mastocytosis patients who are enrolled at NIH for studies.  He is not in private practice, he is a researcher.  He did refer me (I emailed him with an inquiry) to a local allergist who has MC knowledge.  I saw him for a couple of years...bottom line was he was a nice man, but I just didn't think he "got me" and my mast cells.  I have been told by another local MC family that there is another allergist in that same practice who is very good.  I don't have her name, but I could get it if you're interested.  I think she is located in Chevy Chase, just outside of DC.

There was also a doctor who practiced in Richmond by the name of Lawrence Schwartz.  I don't know much about him...maybe you could look through the doctor section of the MC forum and find out more about him.  There is also a doctor in NC...Licthenburg (?), perhaps.  Again, look in the MC doctors section and there is info on him as well.  In his case, he actually reached out to the forum, inviting MC patients to his practice.

Right now, I travel to NYC to see an allergist/immunologist.  (Couldn't hang with Dr. Afrin after he moved from SC to MN.)  She's awesome, but her wait list for MC patients is at least a year long.  Ideally I would like to find someone here in the DMV.  We'll have to see if that pans out...

Hope this answers some of your questions.  Glad to offer whatever help I can.

Best,

Julie
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Re: New member with no diagnosis, yet
Reply #9 - 03/17/16 at 19:24:29
 
Hi Julie,

I think I heard that someone who worked with doctor Afrin is seeing mast cell patients where he used to practice (MUSC?). Do you know if that's true?

Thanks,
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Reply #10 - 03/17/16 at 19:26:24
 
Kay,

I know Dr. Castells has consulted with other docs in the past, but I'm not sure if she still does.  Does anyone else know?
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Reply #11 - 03/18/16 at 01:37:50
 
Hi Julie,

To answer your question about what testing I have had done, the following list includes tests used for ruling out differential diagnoses as well as for testing for mast cell disorder. Results were normal unless otherwise noted. They are not listed in chronological order but clumped by type.

Cardiac monitor (twice)- inappropriate sinus tachycardia
Thyroid ultrasound
Abdominal CT with contrast
Bone density scan

Basic metabolic panel-
complete metabolic panel-
TSH- normal
Thyroid panel with TSH
CBC with differential - done twice
Metanephrines, FRac., Pl. Free
Calcitonine, serum
Immunoglobulins A/G/M
Rast tests for various foods having "allergic" reactions to- none clinically significant, so normal except I'm      reacting to them inconsistently

Tryptase - done seven times:  16.4, 17.5, 13.0, 17.8, 14.7, 15.8, 17.0

24 hr. urine test for:
      N methylhistamine
     Creatinine concentration- done twice      
     LTE4
     Beta-prostoglandin F2 alpha-
     BPG2 concentration
     11 Beta-prostaglandin F2 Alph
     5-HIAA

All of these tests are from various doctors: two cardiologists, two allergist of which one is an MC specialist, an endocrinologist and a nephrologist. The tests that the MC specialist ordered  were two of the seven the tryptase and the urine tests (minus the 5-HIAA by another doc). According to him, my tryptase was not high enough to warrant a bone marrow test. He told me to get my tryptase checked every six months and if it should go over 20, then come back and see him. The specialist is Dr. Lawrence Schwartz.

After he told me that, and that I was outside the parameters, I decided to pursue differential diagnoses with the help of my regular allergist. My allergist is the one who suspected I had a mast cell disorder and sent me to the specialist.  I am hoping there is another specialist who would be willing to consult with my allergist on testing and treatment.

I have continued on the high doses of antihistamines recommended by Dr. Schwartz  and they have helped, but  I still have symptom regularly, although usually not as severe.

Thank you for the information about Dr. Afrin. I intend to pass along recommendations of doctors who will phone or email consult to my allergist. I have been pleased with my allergist and intend to stay with him.

I wish you the best of luck in finding a local allergist that is the right fit for you and can meet your needs.

Thanks,

Kay
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Re: New member with no diagnosis, yet
Reply #12 - 03/19/16 at 04:50:03
 
Kay,

Thanks for taking the time to provide us with a snapshot of your diagnostic workup. Wow, it's a lot, isn't it?!  So frustrating too, when you feel poorly, go to so many doctors, go through many different tests and still have no definitive answer.  We can all relate.

Glad you were able to find Dr. Schwartz.  Again, I don't know much about him, but his name has been mentioned for many years in MC circles as someone who has expertise in the diagnosis and treatment of MC issues.  Hope you found him to be helpful.  Also, great that you have an excellent allergist in your corner...and one that is so informed as well!!

In terms of the diagnostic workup for MC issues, you surely have had many of the tests that would indicate a MC disorder.  Having said that the diagnostic parameters for MC disorders is still evolving...even the MC experts themselves differ on some of the markers that should be considered in a MC workup.  Doesn't make it easy on patients looking for a diagnosis.

I don't know if in your reading you have come across the MC chapter that Dr. Afrin wrote but it is one of the more comprehensive resources for presentation/diagnosis/management of MC disorders.  It does a nice job covering diagnostic workups.  Here's the link just in case you haven't seen it:  (The link takes you to a chapter abstract, the PDF for the entire chapter follows the summary.)
www.novapublishers.com/catalog/product_info.php?products_id=42603

One other thing I would mention is that if you end up seeing a gastro at some point and having a scope (colon or endo) for your GI issues be sure to ask him/her to take biopsies and have them stained for MCs.  That is how I first found out that MCs were at the heart of my vast symptoms.  Before my MCAS diagnosis, I carried the diagnosis of mastocytic enterocolitis which came from GI biopsies.  If you want more info on the subject here's an article my gastro co-authored on the subject.  (Fair warning it is a bit dated...2010, but still some good info.)
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3033552/

I hope you're able to get some answers soon.  It's hard to feel crummy and not know why.

Wishing you (and all) symptom free days!

Julie
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