https://assets.cureus.com/uploads/case_report/pdf/250488/20240513-29336-10zu62p.pdf
Cureus, published 05/12/2024
Ngowari Pokima , Georges Khattar , Praneeth R. Keesari , Salman Khan , Nnedindu Asogwa ,Muhammad Niazi , Ruifang Zheng , Qun Dai
Abstract
We present a case of an adult male who presented with pancytopenia accompanied by symptomatic anemia, necessitating chronic transfusions. He was diagnosed with systemic mastocytosis with an associated hematologic neoplasm. Following an inadequate response to midostaurin therapy, the patient was initiated on the newly approved avapritinib. The patient showed significant improvements in all three blood cell lines; however, he developed leg edema, blepharedema, and gum bleeding on this medication. This case underscores the intricacies of managing a patient with advanced systemic mastocytosis, the emerging role of highly selective KIT inhibition in its treatment, and the practical management of adverse medication effects.
Keywords: systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease (sh-ahnmd), targeted therapeutics, molecular target therapies, tyrosine kinase receptor inhibitors, systemic mastocytosis
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