Behind the Mystery: Systemic Mastocytosis
June 28, 2021
Systemic mastocytosis causes a wide variety of symptoms that can be severe and debilitating, causing patients to live in fear of reactions to triggers.
Systemic Mastocytosis (SM) is characterized by the overactivity and build-up of mast cells throughout the body. In approximately 95% of people with SM, an unexpected change to the gene called KIT D816V causes too many mast cells to be made. This overactivity and build-up of mast cells in different parts of the body like skin, bone marrow, and gastrointestinal tract causes a wide variety of symptoms that can be severe and debilitating.
The symptoms a person with SM experiences can vary and range across multiple organ systems making it difficult to diagnose. According to one study, patients with systemic mastocytosis can often face a diagnostic odyssey lasting 3 to 7 years and have to see multiple specialists before getting a diagnosis.
We’ll meet Kristine who spent years struggling with symptoms causing her to live in fear of potential triggers, and hematologist/oncologist Dr. Bose to help understand the complicated aspects of this rare disease.
Sponsored by Blueprint Medicines Corporation.
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