Mast Cell Activation Syndrome is still a relatively new diagnosis. ICD (International Statistical Classification of Diseases and Related Health Problems) codes were developed for the condition in 2010, meaning that many doctors and nurses have not received education about the signs and symptoms of MCAS, especially if they went to medical school decades ago.
This situation is further complicated because MCAS can affect so many organ systems that a patient coming in to a doctor’s office or an emergency room can appear to have so many issues that it is overwhelming for medical staff to know what to manage first.
Too many MCAS patients suffer for years seeing Gastrointestinal doctors and/or allergists and/or primary physicians and/or anyone who will see them trying to determine a diagnosis for what is wrong with them.
There is no medical specialty YET that focuses solely on mast cells and the diseases and conditions that come into play when mast cells are over-activating. Some medical doctors treat issues that have a mast cell involvement. An allergist may understand how mast cells intersect with food and/or pollen allergies. A gastroenterologist may understand the result of mast cells creating inflammation in the gut. A dermatologist may be able to diagnose mast cells in the skin. However, mast cells affect so many other organs in the body, and the cascading effect of an activation of mast cells can make a patient look overwhelming with a long list of symptoms and complaints. I had a few doctors who began the discussion of maybe I was making up my symptoms and that it was all in my head, because they couldn’t find anything wrong with me, based upon their standard testing.
I knew I wasn’t crazy, and I wasn’t a hypochondriac. If anything, I was the opposite. I pushed myself every day to keep going. However, I was convinced there had to be something wrong, and I wasn’t going to give up my search for a diagnosis, and for a cure.
MCAS patients may experience a slew of issues including stomach and intestinal issues, flushing, anaphylaxis, hives, skin rashes, itching, brain fog, rapid heart rate, anxiety, swelling…the list goes on and on. Many doctors are familiar with systemic mastocytosis, I found, and are more than willing to order a bone marrow biopsy and a 24 hour urine. However, too many MCAS patients will have these tests come back completely normal and yet still suffer from symptoms listed above.
The Mast Cell Disease Society (formerly The Mastocytosis Society) has a listing of tests for diagnosis of MCAS on their website here. Some doctors will prescribe an H1 blocker (such as Zyrtec) and an H2 blocker (such as Pepcid), and if the patient notices a decrease of symptoms, the doctor will deduce that a mast cell activation issue is involved. This is backward logic, however it is frequently used!
Doctors will frequently order a blood test for Tryptase to see if it’s elevated, signaling MCAS. I can’t count the number of Tryptase blood tests that I had come back normal, where I would hear once again, “you don’t have a mast cell problem.” I never had one Tryptase blood test come back elevated, yet I was diagnosed with MCAS!
Patients do need to have blood work and urine tests run to rule out other diseases that can mimic MCAS. And sometimes there will be CT scans or biopsies necessary to rule out celiac disease for example, or a carcinoid tumor. Blood tests for Complete Blood Count and Blood Chemistries are helpful to see if the patient is having other issues such as high eosinophils or low platelets which can be a result of high mast cells.
Additionally, if you have never had skin prick or IgE blood tests to test for pollen and food allergies, now would be the time to do so. It’s very important to know if your symptoms are from true food or pollen allergies, or if you’re experiencing mast cell reactions not related to IgE allergies. A Board Certified Allergist can perform these tests, and interpret them for you. I would suggest not wasting your money on at-home allergy testing, and while I love chiropractors, muscle testing for food allergies is not going to yield the information you need if you are seriously ill with mast cell issues.
My MCAS was diagnosed through a biopsy from an endoscopy of my esophagus, stomach, duodenum and small intestine where a lab test for mast cells was used called Alcian Blue. Additionally, the GI doc that I was seeing in 2011 had a high powered microscope where he would personally count the number of mast cells in my biopsies! A Tryptase immunostain can also be used on biopsies to determine the level of mast cells, and I’ve had that used most recently. Doctors disagree on how many mast cells in a high power field need to be present in order to have a diagnosis of MCAS. I’ve heard anywhere from 11 to 20. And some patients will have 20 mast cells per high power field yet have no symptoms!
It may be difficult to find a GI doctor or an allergist in your local area that is knowledgeable about MCAS, and has the understanding of how to diagnosis the disease. It may be necessary to go to a MCAS expert outside of your state in order to get the proper diagnosis, especially if you are experiencing anaphylaxis on a regular basis, and/or are having to eliminate numerous foods in your diet to decrease the number of reactions that you are experiencing daily.
Dr. Anne Maitland in Tarrytown, NY is a frequent presenter at Mast Cells conferences, and is very knowledgeable about the disease. Dr. Lawrence Afrin and his partner, Dr. Tania Dempsey, in Purchase, NY are two more doctors that are considered experts.
The Mast Cell Disease Society has a Medical Advisory Board, and the list of doctors on that Board is provided here.
My Quest to Get a MCAS Diagnosis
I have a long history of allergies, eczema and hay fever since childhood. Allergies are an entirely different process of reaction in the body; however, many people with a diagnosis of MCAS or EoE also have a diagnosis of food or pollen allergies. And my allergy history was an important part of my foundation of learning about cellular responses in the body to external triggers that cause reactions.
In looking back, I realized that I began having allergic issues in my childhood in the 1960’s. With my Dad in the Air Force we went to military hospitals, which back then weren’t renowned for the care of dependents. I suffered constant ear infections from the age of one month to 4 years old when tubes were finally put into my ears. Back then, no one thought about food allergies being a cause, so I was never tested. I remember a lot of my childhood being really uncomfortable and being sick a lot. In addition to the ear aches and pain, I was covered in eczema, weeping, red and itchy, and can remember scratching my skin until it bled. The eczema began clearing up once I hit puberty. I had a plugged up or a runny nose every day of my childhood. If I stepped outside, I was sure to attract every bug within 100 miles and get bitten.
We lived in Arizona for two years, and the heat exacerbated my eczema, and I regularly had allergic conjunctivitis. I can remember awakening in the morning with my eyes glued shut. In the 1970’s there weren’t over-the-counter antihistamines or eye drops to quell my symptoms. Even Benadryl was a prescription, and the side effect of knocking me out didn’t make it a good daily medication.
After two very long years in the desert, we moved back to Colorado. My brother and I were expected to take care of the huge yard we had on the Air Force base by mowing the grass, pulling the weeds and watering. Both of us had severe grass and weed allergies evidenced by our symptoms, even though neither of us had ever been tested for pollen allergies. We would be sneezing, coughing and blowing noses all summer long.
I didn’t get a skin prick test for pollen allergies until I was 16 years old, after having two severe allergic reactions where no one ever discovered the source. These episodes involved me getting enormous hives all over my body, but no breathing difficulties. In the ER with the second reaction, I received four shots of epinephrine before the hives began to subside. The doctor insisted that my parents schedule an appointment to receive a skin prick test to determine what could be causing my reactions. The results of the skin prick test were clear – I was severely allergic to all pollens: grasses, trees, molds and especially weeds, in addition to dust. No one thought to test me for food allergies, and in the 1970’s I don’t know if such tests were available or accurate.
I received allergy shots for the next three years which helped me tremendously to better tolerate the pollens in the springtime and summertime. I remained basically allergy symptom free during my years in college in another state, but moving back to Colorado and later getting pregnant brought forth the allergies with a vengeance.
I had food allergies diagnosed after my first pregnancy to wheat, onions, peanuts and corn via skin prick and blood tests, yet I had been eating all of these foods seemingly without issue. At the suggestion of the allergist, I didn’t take them out of my diet . I was still severely allergic to all of the pollens previously tested when I was a teenager. I tried allergy shots again, but this time ended up getting sick every time I received a shot, so eventually gave up.
A company I was working for after my first child was born suggested that every employee obtain a flu shot. I had never had one before, and thought it would be a good idea to get one since we were closely situated in office cubicles. Within a week of getting the shot, my body revolted. I remember sitting in a meeting and feeling my ears fill up with fluid and my body heat up and begin to sweat. My head literally swelled to twice its normal size. I knew something was seriously wrong and that I was having some kind of reaction. My primary physician couldn’t believe it was from a flu shot, but this was back in the early 1990’s when the shots were egg based, so that could have been the issue. I became Chief Detective, looking for the cause of this strange reaction that was unlike my previous serious reactions. I realized that I had been having severe stomach aches after eating eggs shortly after my daughter was born, and after seeing a nutritionist and telling her my symptoms, she determined my reaction was caused by the egg in the flu shot.
After my second pregnancy, I began having gut pain and reactions to foods like peanuts, that I had previously been able to eat without issue. I had another food allergy testing completed which showed high positives to onions, corn, tomatoes, almonds, peas and peanuts; however, no positive test to eggs. So I began to eat those again, and was able to do so without problems.
My son began to show symptoms of eczema within weeks of birth, so I had my focus shifted to his issues instead of my own. He got diagnosed with life threatening food allergies to peanuts shortly after his birth in 1996, and later added tree nuts, sesame, fish and shellfish to his list of foods to avoid. Managing his care was an enormous feat, especially since at that time there were no laws requiring that food manufacturing labels list the ingredients in their product. I got an education in food allergies by communicating online with the few other parents I could find on LISTSERVs, a software application that was the only thing available in the late 1990’s.
Every few months, I would have a stomach ache after eating a food, like blueberries, that I would trace back to previous stomach aches. And then I’d remove that food from my diet. I really didn’t spend a lot of time examining these issues, but I soon had removed many foods from my diet, which I see now was part of the rising issues with my immune system and reactions.
In the summer of 2006, my 10-year-old son went into anaphylaxis for the first, and so far, only time, to one bite of fish on a camping trip. He had previously tested negative to fish on an allergy testing, but was positive to shellfish, so he had never eaten any fish because of the close contact of the two seafoods in display cases in the grocery store. Fishing in the Rocky Mountains allowed him to not have to be concerned about the cross contact and to cook and eat his first trout. Within two minutes of his first bite, his gums went from being itchy to full-blown anaphylaxis where he couldn’t breathe. My husband and daughter were with him on the camping trip, while I enjoyed some alone time at home. I received the phone call from my husband who was at the emergency room at a small hospital in Lake City, Colorado. He told me everything that he had done to save our son, which included an EpiPen injection and then a 19-mile drive over four wheel drive trails to get to the hospital. I felt scared and relieved to hear that our son was fine, and that he refused to cut the camping trip short now that he was feeling hungry and ready to get back to camping! I sure was glad when everyone returned home a few days later in good spirits and good health. My nerves were in heightened alert mode for many months after that watching him for any new reactions as he went back to school in the fall.
A month later, in September, I was stung by a wasp in our yard. I had been stung several times previously in my life by bees and by wasps and had always had a mild reaction. This time, however, the reaction was more severe. I took a dose of Benadryl, but I didn’t really take the reaction all that seriously. While I didn’t go into anaphylaxis, I had severe swelling at the site of the sting (on the back of my right thigh) that started about 12 hours after the sting occurred.
The next morning, I cooked myself a fried egg white omelet and got a severe stomach ache after eating. There were those egg issues again! While I’ve had a sensitive stomach my entire life, it occurred to me that seemed rather coincidental that my stomach would be in such bad shape the day after a wasp sting.
The swelling from the wasp sting lasted the better part of a month, even with topical steroids and anti-itch creams. I certainly would have taken my child to the doctor if they had the symptoms that I had, but I felt that I wasn’t in too bad of shape.
After a few more weeks, my stomach was starting to hurt a lot, and not just when I ate eggs. My daughter had recently given up wheat and felt so much better, so I decided to do the same.
Three months after starting on the wheat free diet, I began having horrible gut issues. (I’ll use “gut” frequently signifying a group of organs that includes the esophagus, stomach, small intestine, and colon.) My symptoms manifested in a variety of ways. I had a general malaise, but couldn’t figure out the source of the problem. I’d feel better for a few days and think it was gone. It took two more months for me to realize that I wasn’t getting better. I went to a general practice D.O. who ordered up a celiac test, various blood and stool tests for bacteria and an H Pylori test. Everything came back negative except for the H Pylori.
After being treated for the H Pylori with Metronidazole and Aciphex antacid in January 2007, my stomach still had a tight feeling, which I knew wasn’t right. I still couldn’t get back to a normal feeling gut. I was also starting to see skin problems that I hadn’t had previously. I would get small pimple-sized hives that would itch ferociously. From what I’ve learned about these H Pylori infections, the body will generate an abundance of mast cells in order to fight off the infection. My body was apparently also creating an abundance of mast cells as a result of the wasp sting, so I was completely overburdened with mast cells!
I was referred by my D.O. to a local Gastroenterologist, Dr. L. He performed several more blood, stool and urine tests, and an endoscopy. With one of the urine tests, I had to collect for 24 hours and was put on a limited diet. I didn’t eat products with my wheat alternatives (rice, potato and tapioca flours) and noticed that my stomach felt better. I decided to cease eating wheat and its alternatives. The urine, blood and stool tests all came back normal, showing no indication of what was causing my gut upset.
The endoscopy was completed in April 2007, and showed I had a hiatal hernia, which is a condition in which the upper part of your stomach bulges through an opening in the diaphragm. I was prescribed Zantac 75, which really helped with my gut feel better. Up until this point, I really didn’t know that I was experiencing acid. So many of my problems seemed to be centered in my intestines that I couldn’t pinpoint acid as an issue. I was also told to begin taking 10mg of Zyrtec daily. I took the Zyrtec once daily, and the Zantac twice a day for 2 weeks and felt like a new person. Sadly, that good feeling didn’t last and the gut problems came roaring back.
I was next given Prevacid to try by Dr. L, which gave me a horrible nauseous feeling. I stopped taking that within a day of trying it. This was also true of any antacid like Tums or Pepto Bismal– my stomach hurt worse after taking it.
In September 2007, I had more blood and stool tests run and a colonoscopy. I found that I am positive for DQ2, the genetic pattern for celiac disease, but I did not test positive for celiac based upon biopsies nor visuals of the villi in my intestines. I also had a low ph (6.5) in my stool, which is slightly acidic according to Dr. L, suggesting a carbohydrate maldigestion that is usually indicative of a lactose intolerance condition. The colonoscopy showed nothing out of the ordinary.
I was frustrated! I certainly didn’t feel normal! My anxiety level began to increase, especially since it had been an entire year of feeling poorly. I expected a doctor to be able to easily figure out what was going on in my gut with the volume of tests that I had done. I’d have some good days, but mostly I felt like I had a continual case of the stomach flu, which made leaving home difficult.
I saw that the wasp sting was the breaking point for me and the hitting of a threshold where my body could no longer get back to homeostasis. There was life before the sting, and life after the sting. There was the occasionally unhappy gut before the sting, and the always unhappy gut after the sting. The sting did something to my immune system that was making it difficult, if not impossible, to get back to an equilibrium.
I decided to pursue the food allergy route. I had another skin prick test and an Immunocap RAST test completed testing numerous foods, ordered by my allergist, Dr. B. I had numerous positives to foods, but had been eating many of these foods without issue. I wasn’t able to eat the foods that I wasn’t allergic to on the testing without severe gut distress. In other words, I was still reacting to foods that I wasn’t allergic to, and this was baffling for Dr. B. This is a common refrain of those with mast cell issues.
The whittling down of my available foods left me eating lean pork, chicken, turkey, fish, russet potatoes, white jersey potatoes, apple, pear, broccoli, carrots, asparagus, romaine lettuce, and cauliflower. I tried to rotate these foods every three days, but because there were so few foods that I could eat, it was very difficult. I didn’t like the feeling of being hungry all the time!
The only food that I had the classic allergic reaction of hives was onions, and I quickly learned I needed to completely remove them from the house. I couldn’t even stand the smell of them anymore. Every other reaction to food was centered in my gut. I never experienced any breathing difficulties.
I ate 6-8 meals a day, generally eating every 2 hours. I frequently felt satiated for only one hour. I generally ate my last meal/snack within 2 hours of going to bed. I didn’t know at this time that my constant hunger was another sign of mast cells degranulating in my stomach.
Since no medical doctor had yet determined the cause and a diagnosis of my issues, I started seeing “alternative” practitioners. I saw a chiropractor who showed me how to gently massage my stomach down to ‘remove’ the hiatal hernia. This did help. My stomach would gurgle and feel better for a few hours. I began sacral occipital treatments with this chiropractor, especially focusing on my stomach and colon area to try to heal the energy pathways. Another chiropractor suggested I begin wearing a lift in one shoe to even out my gait, and to help with back pain I was now experiencing. This was supposed to be a temporary fix; however, my body was in such disarray with stomach pain, and thereby back pain, I ended up with the lift for nine years.
Dietitians and nutritionists that I saw suggested taking various supplements like calcium carbonate and probiotics. This would appear to be working well, then within about three days I would have gut issues. I gave up on taking any supplements based on my gut reactions and on my inability to find out what inactive ingredients were in the pills. I seemed to be reacting to everything I put in my stomach.
I continued to see my GI doc, Dr. L, who ordered an abdominal CT scan with contrast, which ended up being normal. I felt absolutely nauseous after that scan. I didn’t yet know that the contrast dye can activate mast cells. For the next few years, I was caught in a cycle where I would try a new prescription, inevitably have a reaction to it, or not be able to tolerate it for more than a few days, and then go back to see Dr. L to try another prescription. During this time, I tried Gastrocrom, a mast cell stabilizer, and Elocort (Budesonide), a swallowed corticosteroid in pill form. I tried each of them independently for three days. The Gastrocrom gave me horrible nausea and dizziness. The Elocort gave me loose stools; and did nothing to help my stomach. I also tried Budesonide slurry which caused severe intestinal cramping, and was horribly expensive through a compounding pharmacy.
I did more research on my own and asked Dr. L about swallowed Flovent and also about Neocate, or some other elemental formula to get more nutrition into me. Dr. L said that he didn’t find Flovent to be as effective as the Budesonide slurry, and that his patients with gut issues like mine couldn’t tolerate Neocate.
In June 2008, since my stomach still didn’t feel very good, and I was relegated to a very limited diet, I asked to have another endoscopy performed. For the first time, it was found that I had excess mast cells (17) in the duodenum but no evidence of EoE. Dr. L’s diagnosis was mastocytic enterocolitis, yet I hadn’t had a follow up colonoscopy, so he was just giving me a diagnosis based upon my symptoms.
I was also diagnosed with bile reflux (which occurs when the pyloric valve has become too lax and opens too much at the base of the stomach allowing bile in) based upon the pictorial results of the endoscopy. I had my gallbladder removed 18 years prior, which makes bile reflux more likely from what I was told by my GI doctor.
During the next several months, Dr. L again tried various prescription medications to help my symptoms: Gaviscon, Carafate, and Creon (a pancreatic enzyme) in addition to having another endoscopy performed in September 2009. I had 10 mast cells per high-power field in my duodenum, and no eosinophils in my esophagus. This time I was diagnosed with gastritis and reflux esophagitis, yet Dr. L didn’t have any idea what was causing these conditions.
I pushed Dr. L to send me to the Mayo Clinic, or anywhere so that I could get more testing done and find out why I still felt awful. In December 2009, I was sent to an allergist at National Jewish Health in Denver to see about rush immunotherapy in an attempt to calm down my pollen allergies and thereby supposedly help all the gut issues I was experiencing. The allergist there didn’t understand the mast cell issues that I had been having and thought I had systemic mastocytosis instead. Blood tests were done, and everything came back normal including Tryptase. I was repeatedly tested for elevated Tryptase by virtually every doctor I saw, and many doctors, in error, thought that my normal test result meant I didn’t have a mast cell issue.
The gastroenterologist I saw at National Jewish listened to my story of symptoms and reviewed my previous test results. She immediately wanted to have me do ANOTHER endoscopy with her and to do a bone marrow biopsy. By this time, I had begun reading about systemic mastocytosis online. In 2009, there wasn’t much information online about mast cell issues, but from what I was reading I didn’t believe an invasive test like a bone marrow biopsy was going to help me find out what my diagnosis was. Also, I was scared about another invasive test and how my body would respond, since each endoscopy was getting more difficult for me to tolerate. Additionally, I wasn’t going to go through another endoscopy when I had all the test results from my previous two endoscopies, and she could use the biopsies to do different tests in their lab if she wanted. I walked out of that hour-long doctor visit feeling completely defeated. I had placed so many hopes on this GI doctor at a renowned medical institution knowing something about what was causing my symptoms. I still felt I had some type of mast cell or allergic-type issue affecting mainly my gut and skin. I needed to get to the right doctor who understood better what was going on. I just didn’t know what kind of doctor that was, and I was so frustrated with my lack of progress and the medical establishment’s inability to help me.
At my next GI appointment with Dr. L, I shared my frustration about the National Jewish Health doctors. He then suggested I go to see a gastroenterologist he had heard speak about mast cell disorders at a recent conference, Dr. M. It took months for me to get an appointment with this new doctor, and I had to fly to another state to see Dr. M in the summer of 2010. Thankfully, the health insurance we had at this time allowed me to do so and to have the visit covered. At my initial appointment, Dr. M discovered that I had dermographism. He also found a severely painful spot at the location of my ileocecal valve on the right side of my body. He said that everyone who has a mast cell issue that he sees has pain at that point.
Yet at the initial visit, he still didn’t think I had a mast cell disorder! He suggested that I be blood tested for angioneurotic edema, which came back negative. He put me on the medication, Ursodiol, which has an off-label use of mitigating mast cell activation. Ursodeoxycholic acid (UDCA) is used to treat biliary disorders; and bile acids alter mast cell histamine release. I was actually able to tolerate this medication, which was a first! The medication helped the burning feeling I had in my stomach, which was wonderful. It didn’t resolve all of my problems, but I felt hopeful that I could take a pill AND that I could feel some relief of symptoms.
Dr. M started me on Gastrocrom (again), and wanted for me to start slowly and build up to at least two vials per day. I took this medication for one year and never got higher than ½ vial per day, because of the same reactions I had previously – nausea and dizziness. Dr. M determined this medication wasn’t doing me any good since I was taking less than the therapeutic dose, and told me to cease taking it.
At this point, I was eating only four foods: chicken, turkey, russet potatoes and broccoli. I was so tired of eating these same foods for every meal. I couldn’t use any oils or any seasonings without having a reaction. I was eating so many potatoes I thought I’d turn into one! All of these foods had to be cooked, which generally took 45 minutes to prepare each meal, plus two snacks per day. While I hadn’t been able to eat out at a restaurant for years, the cooking of the meals made it difficult for me to time my day. Frequently, I was bringing food with me to meet friends or to visit family, but day trips were almost impossible because of the volume of food that I would need to cook beforehand. And then I didn’t want to eat the food cold, so finding a microwave that I could use in a restaurant to heat my meal became my next quest. Frequently restaurants wouldn’t allow me to use their microwave, which was very frustrating. I became more home bound and felt tied to the stove.
I continued to be very symptomatic, so in November of 2011, Dr M. performed an endoscopy. He sent out my endoscopy lab biopsies to be stained for mast cells through Alcian Blue staining, and he had a high-powered microscope that allowed him to also count the mast cells himself. The results were shocking. I had 17 mast cells per high-power field in my duodenum and 40-50 eosinophils there also. Where I had zero eosinophils in my esophagus at the last endoscopy in September 2009, I now had 80-90 there and in my intestines. I also had biopsies done in my antrum stomach which yielded 2 eosinophils and 30-35 mast cells; in my stomach body I had 12 eosinophils and 30-35 mast cells.
Most doctors agree that if your count is above 15 per high-power field, you have the diagnostic criteria for Eosinophilic Esophagitis and/or Mast Cell Activation. I had both. Finally, I knew why I was feeling so terribly! In the two years since my last endoscopy, my illness symptoms had skyrocketed, along with my mast cell count and eosinophil count. Yet, I continue to wonder if my local GI doctor, Dr L., was sending out the biopsies to a lab that was staining incorrectly, especially since I had been feeling so poorly for years. I feel certain that there had been mast cells and eosinophils throughout my gut for years!
Dr M. gave me a diagnosis of an “unnamed mast cell disorder.” He was apparently concerned that my insurance company would not understand the difference between a Mast Cell Activation Syndrome (MCAS) diagnosis and a Systemic Mastocytosis diagnosis, and that he would be marking me for trouble with future insurance coverage if he called it MCAS. (This was before the Affordable Care Act.)
Since Gastrocrom didn’t work for me, I was put on another mast cell stabilizer, Ketotifen, which I had to obtain through a compounding pharmacy. I remember taking that first pill of Ketotifen. I was so hopeful that this pill would be different and that it would help me to feel better. I swallowed it down with a sip of water and waited, hoping to not feel stomach pain. Within about 15 minutes, I could feel my body calming down. It was a miracle! I was so grateful, I got teary-eyed. The compounded Ketotifen didn’t have any added fillers, which aided in my stomach’s ability to tolerate the medication.
It was a long road of 5+ years to get diagnosed with MCAS and EoE, yet my journey was far from over!
To read about Treatment for MCAS, click here.