How is mast cell disease diagnosed?
If you suspect you may have a mast cell disease, a board-certified allergist or immunologist is a good place to start. Other specialists include gastroenterologists, dermatologists, hematologists and endocrinologists.
Diagnosis involves blood tests, including serum tryptase – a marker of mast cell burden or activation – both at a baseline level and during a mast cell reaction, and 24-hour urine collections for various mast cell mediators.
Tissue biopsies for diagnosis may include a skin and/or bone marrow biopsy, endoscopy or colonoscopy of the gastrointestinal tract and specific mast cell stains. Select patients may also require genetic tests.
Bone density, bone scans and CT scans of the abdomen and chest may be necessary to assess mast cell damage.
How is mast cell disease treated?
Patients with mast cell disease experience anaphylaxis, an acute, life-threatening systemic reaction resulting from the sudden, rapid release of mediators from mast cells. Epinephrine auto-injectors are the first line of treatment, followed by transport to the ER or hospital for follow-up care.
Patients may be treated with medications to block reactivity of the mast cells or the effects of mast cell mediators. These medications include:
- H1 and H2 antihistamines
- Mast cell stabilizers (cromolyn sodium, ketotifen)
- Leukotriene inhibitors such as montelukast
- Aspirin (under direct physician’s supervision)
- Aggressive mast cell diseases may require treatment with chemotherapy.
Adults diagnosed with mastocytosis can now take a medication to stop symptoms before they can start. Avapritinib (brand name Ayvakit®) is a kinase inhibitor that is FDA-approved to treat both advanced and indolent systemic mastocytosis. It’s taken orally as a pill. The medication delivers a small molecule that attaches to the protein (called KIT D816V) that causes the abnormal mast cell. It helps stop the development of histamine that can lead to an allergic reaction. Talk with your doctor about what medication or treatment is right for you.
Patient Resources
The Mastocytosis Society: tmsforacure.org.
Mastokids: mastokids.org
Patient Stories
Gail’s Story
Mastocytosis and anaphylaxis
My husband and I had just arrived at a restaurant for dinner with his family. As we were seated, I suddenly began to feel a familiar pain in my stomach – like a rock poking my mid-torso. I felt flushed, too.
I knew then I had less than a minute before anaphylaxis struck.
My head began to buzz and my vision “grayed.” I managed to get my epinephrine auto-injector and put it in front of my sister-in-law, who is a nurse. Then … down I went, unconscious on the floor.
Due to my systemic mastocytosis – a mast cell disease that involves abnormal mast cells accumulating in various organs – I have experienced anaphylaxis like this more than a dozen times before – at work, in a store, on the side of the road.
My sister-in-law injected the epinephrine auto-injector and called my name, but I wasn’t able to respond. I felt disoriented, confused and sleepy. I eventually opened my eyes and heard someone say the ambulance was coming. My husband asked if we could be sent to the hospital where my mastocytosis specialist would be able to provide treatment.
When the ambulance arrived, the EMT put an oxygen mask on me, but I still struggled to get air. The stomach pain was all-encompassing by that point. I had a prescription protocol signed by my doctor just for this type of situation, but the EMTs said they couldn’t give me pain medicine until I’d seen a doctor.
At the hospital, the ER staff contacted my mastocytosis specialist. Doctors started an IV, adding antihistamines (Benadryl®) and morphine, and slowly the pain subsided. The last stage of the episode included uncontrollable shaking, drowsiness, chills and a feeling of overwhelming sadness.
Since the episode, my doctor adjusted my treatment plan to help slow the progression of mastocytosis-related anaphylaxis.
I ALWAYS carry my epinephrine auto-injector and the prescription protocol with me wherever I go.
Gail Barbera
The Mastocytosis Society
