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Our Commitment to Systemic Mastocytosis Awareness

December 6, 2023

AllerVie Health is dedicating resources and activating frontline physicians and clinicians to raise awareness for Systemic Mastocytosis and Mast Cell Diseases, and aid in early diagnosis for those affected by the disorders. Occurring in an estimated 32,000 people in the U.S. (or 0.01% of the population), SM is a rare disorder characterized by the accumulation of abnormal mast cells in various body parts, such as the skin, liver, spleen, bone marrow and digestive tract. The disorder can result in a web of disparate symptoms, often leaving patients and healthcare providers searching for an accurate diagnosis for months or years. Typically, SM symptoms resemble allergic reactions, placing allergist providers, like AllerVie, on the frontlines of diagnosis and treatment of the disease. Manifestations encompass rashes, flushing, swelling, nausea, fatigue, and other related effects.  

Currently, AllerVie physicians treat dozens of patients with a primary SM diagnosis across its national network of clinics. AllerVie is expanding its focus to include better understanding and advocacy toward early diagnosis and treatment of SM. By providing clarity and relief to those affected by this rare and complex disorder, we are doubling down on our mission of improving patients’ health and quality of life. AllerVie and Blueprint Medicines, a global precision therapy company, have the shared goals of improving awareness of SM through education and advocacy, and transforming outcomes for patients living with the disease.  

“People with systemic mastocytosis often face debilitating symptoms with a significant impact on quality of life, and we are thrilled that healthcare organizations like AllerVie are focused on advancing care for the SM community,” said Dan Shaheen, senior medical director at Blueprint Medicines.  

I personally manage the care of a significant portion of the organization’s SM patients in Birmingham, Alabama, and I was an investigator on Blueprint Medicines’ PROSPECTOR study (NCT04811365). This screen study was designed to determine the prevalence of the KIT D816V mutation in peripheral blood, using high-sensitivity testing, among patients with evidence of systemic mast cell activation. SM is driven by the KIT D816V mutation in about 95 percent of cases.  

Patients with SM continue to hide in plain sight within our allergy clinics. We need to increase awareness and screening in order to better diagnose and care for our patients. The research currently taking place is a significant victory for patients who have tirelessly advocated for themselves over the years.