Case Report: Multidisciplinary management of a patient with indolent systemic mastocytosis and refractory symptoms.

ABSTRACT: Systemic mastocytosis (SM) is a rare hematologic condition characterized by the proliferation and accumulation in tissue of clonal mast cells in multiple organ systems. The release of mast cell mediators in the indolent disease type and the predominant mast cell infiltration of tissues in advanced disease contribute to the heterogeneous clinical presentation. The disease driver in >90% of adult cases is an activating KIT mutation, with D816V being the most frequent. Here we describe a case of a young adult male presenting with osteoporosis with associated symptoms of reflux and a history of bee sting anaphylaxis. A multidisciplinary approach to the diagnosis and management was required to minimize morbidities and prevent complications. Current best supportive care was inadequate to

SUBMITTER: Hamilton MJ 

PROVIDER: S-EPMC11527781 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature