Our expert physicians specialize in the treatment of allergy, food allergy, asthma, and sinus problems, as well as other conditions, such as hay fever, hives, eczema, contact dermatitis, insect allergies, drug reactions, anaphylaxis, and immune deficiency conditions.
Mast cells are immune cells in multiple parts of the body (bone marrow, skin, lungs, gastrointestinal tract) that protect us from infection. However, these cells are also key players in allergic reactions, from seasonal allergies to life-threatening anaphylaxis. Mast cell disorders include mastocytosis, where the body makes too many mast cells, mast cell activation syndrome (MCAS), where the mast cells are “hyperactive”, and idiopathic anaphylaxis, where patients can experience anaphylaxis without a known trigger. Our very own Dr. Tara Saco has such an avid interest in mast cell disorders that she went to Boston during her medical training to study under Dr. Mariana Castells, a world-renowned mast cell expert at Brigham & Women/Harvard.
Mastocytosis consists of several different forms, including cutaneous mastocytosis (common in children, only affects the skin and usually goes away as children grow up) and systemic mastocytosis (usually seen in adults). Children with cutaneous mastocytosis can be followed closely with blood work and office physicals. Patients with systemic mastocytosis may have no symptoms and can be followed routinely, or they may have symptoms of anaphylaxis or symptoms related to other organ involvement. The diagnosis of systemic mastocytosis is usually made with blood tests and possibly a bone marrow biopsy. Both conditions are extremely rare, but new and exciting treatments and experimental trials are being developed to help improve management.
MCAS is a fairly new condition that is currently difficult to diagnose. The types of symptoms patients can experience is broad, and some are seen with other health conditions not necessarily related to MCAS. Blood tests and urine tests can be used to help with the diagnosis, but these can sometimes still be negative. Suspicion for MCAS is high when patients have episodes of (recurrent but not constant) symptoms suggestive of mast cell activation and involve at least two organ systems, abnormal laboratory tests, and appropriate response to medications used to treat MCAS. If these criteria are not met, a diagnosis of MCAS cannot be reliably made, and evaluation for other possible conditions should be pursued. A new condition, hereditary alpha tryptasemia, may or may not be associated with MCAS symptoms. It is currently the only condition in the MCAS family that can be proven with a genetic test. Treatment for MCAS may require input from multiple doctors and health care specialists: Allergy/Immunology (to order the correct labs and medications), Gastroenterologists (to help with intestinal issues), psychologists (to help manage post-traumatic stress patients can experience after multiple mast cell activation episodes), and others. Teamwork among these professionals leads to the best outcomes.
Idiopathic anaphylaxis is anaphylaxis that occurs without any identifiable trigger (i.e. not related to food, insect stings, or medications). However, some of these cases may have a trigger that is difficult to identify. Some syndromes that can be mislabeled as idiopathic anaphylaxis include alpha-gal syndrome (due to tick bites, causes delayed anaphylaxis to red meat and cetuximab chemotherapy, now with increasing prevalence in Florida), cold/heat induced anaphylaxis, food-exercise induced anaphylaxis (anaphylaxis triggered by exercise only after eating certain foods), seminal fluid hypersensitivity, progesterone hypersensitivity, and others. Any patient with idiopathic anaphylaxis should be evaluated for systemic mastocytosis and other difficult to identify conditions.
For more information on mast cell disorders we recommend visiting The Mastocytosis Society website (https://tmsforacure.org) as this site has the most reliable, up to date information curated by mast cell disorder expert physicians and patient advocates for those with mast cell disorders.
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