Brenton Mar, MD, PhD, Senior Medical Director at Blueprint Medicines, gives an overview of systemic mastocytosis and advanced systemic mastocytosis.

As Dr. Mar explains, systemic mastocytosis is a rare, hematologic disorder most often caused by a mutation in the KIT D816V gene. The disorder is characterized by uncontrolled mast cell proliferation and activation across multiple organ systems, resulting in chronic, severe, and often unpredictable symptoms and extensive organ damage.

A minority of systemic mastocytosis patients have advanced systemic mastocytosis, which encompasses a group of high-risk subtypes including aggressive systemic mastocytosis, systemic mastocytosis with an associated hematological neoplasm, and mast cell leukemia.

There is currently no approved treatment for systemic mastocytosis; however, recently avapritinib was approved for the treatment of advanced systemic mastocytosis.

To learn more about systemic mastocytosis and other rare hematologic disorders, visit checkrare.com/diseases/hematologic-disorders/