Diagnosis of primary mast cell disorders in anaphylaxis: value of KIT D816V in peripheral blood

Abstract Background Anaphylaxis is frequent in patients suffering from primary mast cell disorders (PMCD). In patients without mastocytosis in the skin (MIS) and a baseline serum tryptase (bST) Objective In this study we investigated whether KIT D816V in PB can contribute to the decision to perform a bone marrow (BM) biopsy in patients with anaphylaxis without MIS and a bST Methods We selected 74 patients with severe anaphylaxis without MIS and a bST Results Diagnosis of a PMCD was established in 40 patients (54%). Median bST for patients with and without PMCD was respectively 9.5 (4.2-27) ng/mL and 4.9 (2.2-20.3) ng/mL (P Conclusion In patients without MIS and a baseline serum tryptase