Abstract
Since its initial description ten years ago, numerous studies have contributed to a better understanding of the role of hereditary alpha-tryptasemia (HαT) in the diagnosis and management of patients with clonal mast cell activation disorders (cMCADs). These studies have highlighted the high prevalence of HαT among cMCADs patients, the associated elevation in baseline serum tryptase levels-which can influence both diagnosis and disease monitoring-and distinct clinical features, notably an increased risk of severe anaphylaxis. As a result, screening for HαT has become an integral part of the diagnostic work-up in patients with cMCADs. However, several key questions remain unresolved: Why is HαT more prevalent among cMCADs patients? How can we accurately distinguish between HαT and cMCADs during the diagnostic process? And how does the presence of this genetic trait influence the clinical management of cMCADs? In this article, we present the position and clinical approach of the French National Reference Center for Mastocytosis (CEREMAST).