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Mcad ...?


kalamazoo

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I hope that some of our resident-experts chime in, but I thought I'd share some of what I've learned so far. Eight weeks ago, I only knew what I read on this forum about MCAD, and I didn't think that I fit into what I read. Then I learned differently. Now that I am in the process of being diagnosed with MCAS, I'm finally able to see how mast cells are really at the crux of my symptoms.

Unfortunately, this disorder is still in it's infancy so there is much to be worked out. WHO diagnosing guidelines have yet to be finalized and published. A wonderful place to start is with basic descriptions of symptoms, treatment options and emergency plans at The Mastocytosis Society website at www.tmsforacure.org. I won't go into those basics, but I will do my best to give you a concise description of my symptoms and how mast cells may be related to those of us with dysautonomia.

MCAD is also called MCAS, which stands for mast cell activation disorder/syndrome. Mast cells are an important part of the immune system. When there are too many mast cells, this leads to a diagnosis of mastocytosis, a rare hematologic disorder. When symtoms are severe enough and there is suspision that mast cells are misbehavin' and causing the trouble but the mastocytosis criteria has NOT been met, a patient will likely get a diagnosis of idiopathic anaphylaxis, chronic or acute urticaria or other skin related diagnosis. Very recently, researchers have found that there are a boatload of patients that do not meet the mastocytosis criteria, mainly because the mast cell count/mass burden is fine, but have pretty significant symptoms of mast cell activation. So in between these two diagnoses lies the vast world of mast cell activation.

Mast cell activation mainly means that for some/many reasons these mast cells are triggered to degranulate or dump (anywhere between 200-300) mast cell mediators (chemicals, proteins, trypase, heparin, prostaglandins, cytokines, etc) into the body. This massive chemical dump is essentially at ground zero for causing many symptoms and very easily can mess with the autonomic nervous system. Symptoms greatly vary due to which of those chemicals are dumped into the system.

While there are over a hundred symptoms that are tied to this disorder, certain symptoms are screamimng "misbehavin' mast cells", such as flushing, hives, weezing, previous anaphylaxis, food allergies and sensitivities, environmental sensitivities (especially to fragrence, petroleum, detergents), multple chemical sensitivity, medication sensitivities, wierd rashes, and low blood pressure, amond dozens of other symptoms. Patients will often have worse symptoms when off meds, during flares, and often need more meds.

When mast cells degranuate, this sets off a series of worsening symptoms. This domino effect is also known as anaphylaxis. Some people leak these chemicals and are called leakers, while others dump them pretty quickly and are known as shockers. Shockers go into anaphylaxis relatively easy and often without immediate treatment. Several of us who leak describe our episodes as low grade anaphylaxis, and I have done both. I personally flush, with no itching/hives, blurry vision, brain fog, tachycardia, get explosive D or Vomiting, migraine, and have severe orthostatic hypertension on sitting with plummeting orthostatic hypotension on standing. These episodes meets the clinical definition of anaphylaxis.

Mast cell researchers feel that misbehavin' mast cells may likely be the cause for autonomic dysfunction, and is commonly linked to POTS patients. Interestingly, there is a third type of illness, related to connective tissue disorders and anneurysms (ie, EDS, Marfans') which are also tied to misbehavin' mast cells.

Diagnosis is incredibly hard to get, since there are only a few precoius docs in the country who recognize this new disorder. It was only named last year. Right now diagnosis depends on a thorough system by system history by a mast cell specialist, ruling out mastocytosis and other differentials, and looking for one of these mediatiors in urine during an episode (they have a short half-life and are hard to catch). A few docs recognize that with a specific constellation of odd symptoms and sucessful treatment can show MCAS for now, at least until better testing comes out.

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Wow, great run down, doozlygirl! I'm in the process of diagnosismfor MCAS as well, and it's been very interesting to delve into this :). I think the biggest surprise for me was learning what anaphylaxis actually is. I always assumed it meant full-on swelling and lack of breathing, but it looks like my symptoms are almost identical to yours. Why is it that doctors don't recognize that constellation of symptoms as anaphylaxis? So strange! I actually started really looking into MCAS when two of my TTTs came back negative for POTSand one borderline...which is really weird because "in real life", I react every time I stand up for longer than a couple of minutes. I realized the only difference at the TTT is that it's a scent-free environment that is extremely cold, and I had to fast for the test. Chemicals, heat, and eating are huge triggers for me.

The Mastocytosis Society of Canada is working with doctors to try to come up with a consensus document which would aid physicians in diagnosis and treatment of mast cell related illnesses. I'm really looking forward to this, as I don't think my immunologist knows what MCAS is (although she is familiar with mastocytosis, so that's a great start!). This forum is also an awesome resource for information - I've learned a lot from going back through the forum and reading the mast cell related threads :)

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Agreed- great job, Doozlygirl!!!

I think the MCAS/MCAD DX has been around a little longer than you indicated- I was DXed about 5 years ago by a mast cell specialist at Brigham & Women's Mastocytosis Center of Excellence (new name!) But, you are correct that the World health Organization (WHO) is hammering out diagnostic criteria now. Mastocytosis occurs when there are too many mast cells. WHO came up with that DX in the 90's. Docs began to realize that here were some patients who had every symptom of mastocytosis and responded to the treatment but did NOT have too many mast cells- hence the evolution of MCAS/MCAD. Patients with this disorder have a normal number of mast cells,however they are OVERLY reactive and can do the same damage as too many mast cells.

Also, I think the term "shockers" and "leakers" has been coined by sufferers, not physicians-(please correct me if I'm wrong!) but your description of mast cell degranulation among these two groups is right on the money. And, "leakers" can shock and "shockers" can leak so there is some variability among those categories. All patients with ANY mast cell disorder should carry an epi-pen to be safe, even without prior occurrence of anaphylaxis.

Here's a blurb from the old Mastocytosis Society website that describes symptoms and treatment. Their new website is under construction:

______________________________________________

What is Mastocytosis or Mast Cell-related disorder?

According to Merriam-Webster Online, mastocytosis (pronounced mas•to•cy•to•sis), means an "excessive proliferation of mast cells in the tissues." (Retrieved 4/6/09 from http://www.merriam-w...al/mastocytosis.)

Mast cells are something that are produced naturally in every body, necessary to assist the body in fighting possible foreign threats to the system. Individuals with mastocytosis have an abundance of mast cells and the mast cells do not work properly in reaction to a trigger, sometimes unknown.

In the early to mid-20th century, all forms of mast cell disease were undifferentiated and were grouped under the name mastocytosis. Mastocytosis specifically means "an abnormal increase in the number of mast cells," but we now know that definition, taken from the root words, relates to some very specific mast cell disorders, and may not apply to others. Some of the research done in the latter part of the 20th century laid the groundwork for much of the work done today. Over the last 30 years, there has been an explosion of interest in, and research into, the various mast cell diseases, resulting in many different categories being defined, and the definitions are still evolving.

So, for the purposes of this section, we will refer to the general term mast cell diseases which encompasses the following very general subcategories*:

  • Cutaneous Mastocytosis, refering to the skin, including
    • Urticaria Pigmentosa, refered to as UP, relating to hives and skin lesions
    • Telangiectasia Macularis Eruptiva Perstans, refered to as TMEP, relating to a rare form of the skin disease, most often occuring in adults, and consisting of generaly smaller lesions than are typically seen in UP

  • Systemic Mastocytosis, involving more than one (1) organ (skin, gastro-intestinal, liver, etc.), with or without cutaneous manifestations outlined above, including
    • Indolent Mastocytosis, relating to slowly developing
    • Aggressive Mastocytosis, as it suggests, more aggressively developing
    • Mastocytosis with associated hematologic disorder
    • Mast Cell Leukemia

  • Mast Cell Activation Disorder or Syndrome, referred to as MCAD

  • Pediatric mast cell disorders typically include the following
    • Solitary Mastocytoma, as it suggests, a solitary or single "clump" of mast cells or lesions
    • Urticaria Pigmentosa (explained above)
    • Diffuse Cutaneous Mastocytosis, as it suggests, diffuse skin involvement of hives and lesions

It is less common for children to suffer from systemic symptoms, but there are a number of cases. In 2000, at a meeting in Vienna, Austria, a consensus was reached about what criteria must be fulfilled for a diagnosis of Mastocytosis (see our Research article entitled A Consensus Document for more information). Many people met the new criteria. However, many patients who had been formerly diagnosed with Systemic Mastocytosis did not seem to fit into the agreed-upon criteria, possibly because their diagnostic work-up was done incorrectly, or was not conclusive, or because they were not tested for all the criteria. Over the last few decades, some researchers began differentiating between the different forms of mast cell diseases. A few began individually defining new categories, one of which is called Mast Cell Activation Syndrome or Disorder (MCAS/MCAD). Although the various forms of mast cell disease may present with some of the same symptoms, and may be treated with the same medications and avoidance of known triggers, the cause of the symptoms is what makes them separate, but related, entities. Indeed, mastocytosis and other mast cell disorders are heterogeneous, meaning they can present in many different ways. Ultimately, the cause of each different form of mast cell disease may dictate how they are treated.

What are the Symptoms of Mast Cell Diseases?

What we know about Systemic Mastocytosis is that in many cases, it is a neoplastic disease, meaning that it involves new or abnormal cell growth. (Please note - this may not apply to most cases of pediatric and/or familial Mastocytosis.) In this case, the cells involved aremast cells, which are normally contained in body tissues. Mast cells release certain mediators, or chemicals, of which one is histamine, into the body in response to certain events. People with Systemic Mastocytosis develop an increase in the number of mast cells, or they develop abnormally shaped mast cells, which may not function properly. In addition, the mast cells fail to die off when they are supposed to, further increasing the total mast cell burden. This die off is called apoptosis. Apoptosis is programmed into normal cells, but in people with mast cell disorders, the mast cells may fail to die off, resulting in an increased number of mast cells in the body. When these mast cells are triggered, they can degranulate, and release their contents all at once, or they can slowly leak their contents in response to a trigger. This can cause many acute and potentially serious symptoms, which include, but are not limited to, the following:

Abdominal pain, Anaphylaxis, Blood pressure changes & shock, Bone pain (mild to debilitating), Chest pain, Cognitive difficulties/brain fog, Degenerative disc disease, Diarrhea, Dizziness/vertigo/lightheadedness, Faintness, Fatigue, Flushing, Gastroesophageal reflux, Hematological abnormalities, Hives & other rashes, Inflammation of the esophagus, Intestinal cramping and bloating, Itching, with and without rashes, Irritable bowel, Liver, spleen and other organ involvement, Malabsorption, Migraine headaches, Muscle pain, Nausea, Osteoporosis/Osteopenia, Peripheral neuropathy and paresthesias, Rapid heart rate, Vomiting

People who have been told they have Mast Cell Activation Syndrome or Disorder (MCAS/MCAD) may have a normal, or nearly normal, number of mast cells. However, their mast cells "behave badly" - that is, they are easily triggered to release their contents, which results in many of the same symptoms that people with Mastocytosis experience. The danger of anaphylaxis and shock is present with MCAD/MCAS, but unlike Mastocytosis, this syndrome may not have the potential to progress to a more aggressive or malignant stage. Nevertheless, people with either Mastocytosis and MCAS/MCAD can be either very stable or extraordinarily ill on a day-to-day basis, and managing the unpredictability of the mast cell diseases and their symptoms can be quite challenging.

How Are Mast Cell Diseases Diagnosed?

Mast cell diseases can be diagnosed by:

  • Skin biopsies
  • Blood tests
  • Bone marrow biopsy with aspirate flow cytometry
  • Bone desity and bone scan
  • Radiologic, CT scan
  • Careful evaluation of response to treatment

For more information on how mast cell diseases are diagnosed, please review our consensus document.

How Are Mast Cell Diseases Treated?

While a few people manage to remain stable and healthy by avoiding dietary and environmental triggers, many people with mast cell disease take a medication protocol that involves some or all of the following:

  • H1 blockers - antihistamines like hydroxyzine (Atarax®), diphenhydramine (Benadryl®), Doxepin®, loratadine (Claritin®), and cetirizine (Zyrtec®)
  • H2 blockers - antihistamines like ranitidine (Zantac®) or famotidine (Pepcid®)
  • Leukotriene inhibitors like Singulair®, Accolate®, or Zyflo®
  • Mast cell stabilizers like oral cromolyn sodium (Gastrocrom®), cromolyn sodium nasal solution (NasalCrom®) or Ketotifen (Apo®-Ketotifen, Zaditen®)

In addition, many people require:

  • Proton pump inhibitors like omeprazole (Prilosec®), pantoprazole (Protonix®), lansoprazole (Prevacid®)
  • Inhaled bronchodilators such as albuterol (Ventolin®)
  • Corticosteroids
  • More aggressive forms of the disease may require the use of chemotherapeutic agents and/or cytoreductive therapies. Further information about the use of these agents in treating mast cell diseases can be found at cancer treatment centers.

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Yep, it's almost like Goldilock's Syndrome :rolleyes: Everything has to be- just right. Moving is a HUGE stressor & could flare mast cells in those susceptible. Will symptoms go away on their own? With true mast cell disorder- probably not. If you think your symptoms may be caused by overly reactive mast cells, consider an OTC antihistamine & see if it helps. If it does, could be very telling...

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Thanks. Funny thing is how I didn't think it described me, not until my flushing and GI issues came back with a vengence...

I also am surprised to learn about the clincal diagnosis of anaphylaxis and its 4 grades. I too only recognized hives, angioedema, and respiratory issues with full blown anaphylaxis. So sad, since I worked in healthcare for 20 years before getting sick, the first ten years on the front line,and the last ten years as a patient safety advocate within my health system. One of my previous projects involved finding and understanding everyting could find on contrast reactions in the published literature and governing documents. There is very little on anaphylaxis and contrast and I can assure you nothing that fits low grade anaphylaxis and contrast. And contrast may not be our only concern, as many times a coctail of meds is adminsitered during various procedures. Will need to look for list of 4 grades of anaphylaxis.

I read or heard somewhere in an interview scenario where the docs call patients shockers and leakers. If I run across it again, I'll post. I'm thinking it is either in transcript for several of the presentations I've been reading over, or its in the You Tube videos given by the top researchers.

I've been contacting friends and family who work in healthcare and getting an idea of what they know about anaphylaxis. An EMT and a paramedic only learned about the full blown version of anaphylaxis the way I always understood it. They didn't know there are grades. Same thing with an ICU/NICU nurse. This is important to note because without hives, angioedema, respiratory distress -which many of us don't have-, could explain why we aren't effectively treated in a ED/ICU/ or in the field. And a note by one of our mast cell doctors won't likely trump established protocols for anaphylaxis (Epi, IV benadryl, or airway management), at least until the ED takes over.

Mast cell triggers can be medications (entire classes cause this dump),contrast media, foods, spices, heat, cold, steam, stress, activity/excercise, histamine high foods, food and med colorings, allergens, lack of proper sleep, etc.

Julie, you are right. I stand corrected. I didn't mean to imply this has only been around a year or so. Mast cell activation as I understand it has been around for years in the research world and it has only been the past several where it is moving into the clinical world. Dr Afrin has been diagnosing and treating since 2008, and the B+W group much longer that. There are multiple publications out there that dance around the concept of misbehavin' mast cells, but in the last 18 months, momentum has been building with the release of several consensus publications, laying the groundwork for MCAS to be established as a true and legitimite disorder/syndrome.

My main reason for posting this is to point out how on first blush I didn't even consier mast cells as a potential trigger. My sensitivities were in "remission" of sorts. But the minute they came back with a vengence, I know were to turn! Thanks to all the previous forum posts and links on this site, which brought me to other sources of fantastic information.

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Doozly, you've "chatted" with Anaphylaxing about the whole contrast documentation-RIGHT??? Wow, your overlap of interests is mind blowing :blink:

Yeah, I JUST learned about the 4 stages of anaphylaxis too. Do you have a link that describes that?

I figured some doc used those terms- "shockers/"leakers." I just wanted members here to be aware that those might not be official medical terms and most docs won't know what they are talking about- despite the fact that they describe us perfectly. Another phrase that I've coined is "low grade anaphylaxis"- very much akin to chronic low level leaking :D

Yeah- GI issues- SOOOO linked to mast cell disorders & so few realize it. Have you seen this article by Dr. Alford? Very comprehensive & informative about how mast cell activation can manifest: http://alford.grimtrojan.com/Mast_Cells_GI_Motility_Disease.htm

I appreciate all of the good info you are sharing, Doozly. Spread the word. I NEVER suspected MCAS/MCAD either; but once I did ALL of the pieces of my illness came together and lead me to a VERY effective treatment plan.

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I'm going to have to read up about this more. I wondered about it some, then sort of forgot. Then I saw this post and it has me wondering again. Especially since change in environment tends to set off my stomach, I've been known to say "my stomach has a mind of it's own & when my life changes it likes to make itself known"

I was telling my nutritionist about this and he seemed to think it was normal. He said some people are sensitive to environmental changes. It makes me wonder but the strange thing is after about 5 days it settles itself. So I dont really know?

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Thanks Doozly, I KNEW I'd seen that somewhere. I think what is so confusing to Emergency personnel is that some of us can present at Stage 3, without the cutaneous manifestations. The TMC brochure says that the stages CAN occur on a continuum; which also means that they CAN occur out of order- right?

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Mack's mom,

Your posts convinced me to take the time to better understand mast cells and see if it fit in my story. And it does. I have "tried on" dozens of illness. I chased down pheo, then cushings which decribed my symptoms, then looked to pituitary adenoma and insulinoma, among dozens of others, after literally running out of other explanations at the same time some old symptoms returned, MCAS began singing to me. My autonomic issues were always just a description of how messed up I really am.

I still have much of my original research on contrast and imaging procedures, although it is in deep storage. Not sure why I kept it all these years, but guess it will be helpful in the future, as I plug along. I am familiar with Ana's story. Hearing bits of her story made my hair stand on ends. The contrast literature mainly mentions pheochromocytoma and kidney disease as the biggie contraindications for contrast. Several outdated obscure sources mention citric acid (often used in oral contrast and used in mixing with oral contrast, such as crystal lite, ding ding ding - artificial sweeteners....) as a trigger for reactions. Also it is not uncommon for 3-4 meds to be given along with any biospy, steroid joint injection or contrast infusion. And I highly doubt those meds (ie triggers) are disclosed ahead of time or reported in the medical report after words. They will likely be listed in the nurses notes, but you have to know where to find them.... I don't want to be an alarmist, but I have many concerns with common practice in radiology clashing with the likely volatility of a mast cell patient. Do you know if anyone in the medical profession has taken a similar interest? My concerns are coming to light as I learn more about mast cell issues, and stretch into common practices in any diagnostic area, including radiology, cardiac cath suite, GI diagnostics, radiation oncology, orthopedics, surgery, ED. I know you are connected with lots of people in the triad world, so please keep me in mind if you find others with similar interests.

I have seen that GI article and it describes me as well. Thanks for sharing.

Point well taken regarding leakers or shockers. I will be more careful in the future.

Keep building the network and before you know it we'll get to the next level! Thanks for all your hardwork!

Lyn

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Here's s good article that describes the cardiovascular implications of anaphylaxis- which CAN be present w/o the cutaneous stuff. Wish someone would spread the word to Emergency Personnel :rolleyes:

http://f1.grp.yahoofs.com/v1/4FlJT_WT5OMbBWQ45GcM9u_OvzKjlImKdOts-vU7pwXinpXmVID2ZuCI9-0qfcQOfLHDBzSop72FnCqY5Thxgw/2005_Brown_AnaphylaxisCVS%5B1%5D.pdf

Very interesting that they repeatedly refer to the importance of theTrendelenburg position (supine with feet elevated)- DUH! I've always instinctively fallen to the floor during anaphylaxis before using my epi.

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Fantastic resource on anaphylaxis! Great description of 4 grades of Anaphylaxis: http://www.iainfoctr.com/articles/is-it-anaphylaxis.php

Me too, trendelenburg has prevented me from gettign worse. Just think, syncope is natures way of preventing further escalation of anaphylaxis, huh??

I've got some ideas how we can get the word out there.......

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Ana- Makes me VERY sad to hear all you endured and are still enduring... We MUST spread the word about mast cell disorders for all of the reasons that Doozly described. A patient, who is susceptible, has NO idea that they will be exposed to possiblly fatal allergans during CT's/MRI's and biopsies, etc. It sounds like frontline personnel has little idea of how to properly treat a reaction should it occur. I have learned to pre-medicate before any of the above AND I carry extra atarax and my own epi-pen to the hospital with me....but don't have access to it in the MRI tube :angry:

And, Doozly- I am so happy that my posts had an impact on your diagnostic process. VERY gratifying. About 3 years ago, I took a huge leap on this site when I continued to read about other members describing their "POTS attacks/autonomic storms." I said , "Gee, that sounds an awful lot like anaphylaxis to me..." I first learned about MCAS/MCAD from DINET and a member, who is no longer active, Bronwyn. She patiently answered all of my questions and taught me so much. I am deeply appreciative.

Kazoo & Bananas- Sorry we hijacked your thread & hope we've answered your questions :rolleyes:

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Wow thank you so much for all of thw information, i will definitely be asking my doctor about this. A lot of my symptoms fit thia description. I have a question though, what kind of doctor would diagnose this? I always get confused which specialist to see seeing as i have so many. Also I have another question, what type of specialist diagnosed your POTS?

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Ana,

I am so sorry to hear that you received damaging treatment at a time when you needed acurate care the most. This breaks my heart. You are articulate, knowlegable and driven and suffered so much from inappropriate care. From your posts, it is easy to see you are still struggling everyday. I wish you nothing but the best. In your case, knowledge of a grading of symptoms wasn't at the core of your damaging care.

But I know now, as I am beginning to link my own reactions after imaging/surgical procedures, NO ONE, not myself or my scores of physicians even considered my post procedure symptoms could possible be related to the procedure.

Last week, my BFF, at a surgical consult appointment for knee surgery after a recent fall, got a spur of the moment injection of cortisone in her knee in an orthopedic clinic after hours. No discharge directions were given. By the next day, she wasn't right, but couldn't articulate what was going on. By the time I called to check on her, I immediately recognized that she was in a low grade anaphylaxis. She refused to go to the hospital, because she had similar symptoms last year while walking around Lowes and passed out, EMS was called and they treated her as if she was drug seeking. Thank god, she listened to me and had a EPI pen, and had H1s and H2s in the house. I talked her through it explaining what was going on, having her lie down, and alternating meds until relieving her symptoms. My backup plan was to call EMS from my land line (she lives several states away) if she progressed in symptoms at all. The orthopod didn't return her calls until the next day. They are now changing their internal protocols, and now her allergist has something to work with. She is having scratch tests next week with the med cocktail she got that day - cortisone and 3 additonal meds. This makes me wonder how may patients out there are in the same boat, unable to recognize this? The sympathetic overdrive side of my personality is getting motivated.........

Take care, Lyn

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Great thread all. I'm a (probable) MCAD person myself and also have (probable) Kounis Syndrome. (The doc I'm using wants positive proof, and I haven't been able to provide the necessary test - in time - the mad rush to the hospital - when you don't feel like it. But, he issued an epi pen and also has me doing the treatment.) Very good info here and put very well - I thought. Thanks for all the info and time put into it.

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  • 1 year later...

This is great information. Into thousand and seven when all of my dizziness, tachycardia and Gastro symptoms started that's when I became very very allergic to medications and chemicals and had a horrible overreaction to ct dye. Prior to 2007 I had no sensitivities whatsoever.

How do we follow-up with testing for this MCAS? I was diagnosed at the mitral valve prolapse center in Alabama in March and then again at Mayo Clinic Just last week. But there's a missing piece of the puzzle. How and where did we test for this potential missing piece of MCAS?

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One of my reactions recently was to a fiber supplement, psysillim husk in wAter and immediately upon taking that supplement, my blood pressure dropped, pulse raised, i had to go to sleep and it actually caused muscle fasiculations. I had another reaction like that recently to Cortef as well. I have had this reaction so many times since 2007 all of them were to ingested medications or chemicals except for I had the same reaction to CT dye that obviously was not ingested. I had this reaction in 2007 to a store bought cupcake with tons of food dye and preservatives hives, I got dizzy, high pulse raced, too many symptoms to list. Hmmmmmmm

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