Systemic mastocytosis (SM) is a rare disorder characterized by the abnormal accumulation of mast cells in tissues throughout the body.1 Symptoms severity varies between individuals, ranging from symptoms management in more mild cases to chemotherapy in more severe cases. Recent advancements in the understanding and treatment of SM have provided novel therapies for managing the underlying disease and created hope for patients affected by SM.2
Indolent systemic mastocytosis (ISM) is a less aggressive form of SM and patients with ISM often experience chronic symptoms like pruritis, urticaria, diarrhea, and fatigue, which can significantly impact quality of life.3 Historically, treatment for ISM has focused on symptom management through the identification and mitigation of triggers, rather than addressing the underlying disease mechanism. Recently, however, targeted therapies have shown promise in improving the management of ISM. Tyrosine kinase inhibitors, such as avapritinib, which inhibit the KIT receptor mutation present in most patients with SM, have been approved for use in treating both ISM and advanced systemic mastocytosis (AdvSM). Clinical trials have shown that these agents can help reduce mast cell activity and improve symptom control.2
AdvSM is an umbrella category representing more severe and aggressive forms of systemic mastocytosis. There are three subtypes of AdvSM: aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated hematologic neoplasms (SM-AHN), and mast cell leukemia (MCL).4 AdvSM can progress to cause significant organ damage and patients may present with hepatosplenomegaly, anemia, thrombocytopenia, and debilitating fatigue.
Prior to recent advancements in targeted therapies for AdvSM, management included chemotherapy and stem cell transplantation, with life expectancy only extending to 3-5 years after diagnosis. The novel, targeted approach achieved by avapritinib is a significant step forward in reducing disease burden while limiting the side effects often associated with conventional chemotherapy.4 This is an exciting breakthrough for patients with ISM and AdvSM, and a step forward in the advancement of targeted therapies for systemic diseases.
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