Abstract
Mastocytosis is a proliferative disorder of the hematopoietic mast cell progenitor that results from expansion of a clone carrying the D816V c-kit mutation. Based on the dramatic increase in incidence of anaphylaxis in patients with mastocytosis, recent studies analyzed the presence of clonal mast cell markers, including D816V c-kit mutation, in patients with recurrent IgE- and non-IgE-mediated anaphylaxis. These studies demonstrated the presence of an aberrant mast cell clone in a significant proportion of patients with unexplained anaphylaxis, or anaphylaxis due to hymenoptera venom. Clonal mast cell disease should be suspected in particular in patients presenting with profound cardiovascular manifestations such as hypotension and syncope in the absence of urticaria.
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