Mast Cell Activation Syndromes: Comparison Between Two Scoring Models to Predict for Mast Cell Clonality

Abstract

Background: The Red Española de Mastocitosis (Spanish Network on Mastocytosis) score (REMAs) and the National Institutes of Health idiopathic clonal anaphylaxis score (NICAS) were developed for more efficient screening of mast cell (MC) clonality in MC activation syndromes. In a limited idiopathic anaphylaxis case series, the NICAS showed higher accuracy compared with the REMAs.

Objective: To compare the performance of the REMAs against the NICAS in the diagnosis of MC clonality.

Methods: We compared the diagnostic value of the REMAs against the NICAS in 182 patients (63% men, median age 56 years) who presented with anaphylaxis triggered by Hymenoptera venom allergy (45%), drugs (15%), food (11%), idiopathic anaphylaxis (20%), and mixed causes (10%). KIT mutation was assessed in parallel in whole blood and bone marrow (BM) and, when negative, in highly purified BM MC. TPSAB1 was genotyped in a subset of 71 patients.

Results: We found higher accuracy and rates of correctly classified patients for the REMAs (82% and 84%) compared with the NICAS (75% and 75%; P = .02 and P = .03, respectively), particularly among men (P = .05), patients with systemic mastocytosis (P = .05), those presenting anaphylaxis owing to any cause featuring urticaria (P = .04), cardiovascular symptoms (P = .02), and/or presyncope (P = .02) and those with a blood-negative/BM-positive KIT mutational profile (P = .002), but not hereditary α-tryptasemia-associated genotypes. Combined assessment of the REMAs and KIT^D816V in blood yielded an overall improved classification efficiency of 86% versus 84% for REMAs.

Conclusions: The combined use of the REMAs and blood detection of KIT^D816V is recommended, but more sensitive blood-based molecular assays to detect KIT^D816V are needed.

Keywords: Anaphylaxis; Hereditary α-tryptasemia; KIT mutation; Mast cell activation syndromes; Mastocytosis.