Aggiornamenti sull'utilizzo della triptasi alla luce delle nuove conoscenze dell'alfa-triptasemia ereditaria

In 2019, SIPMeL published recommendations on the use of tryptase in the diagnosis of anaphylaxis and mastocytosis. In 2016, a new genetic variant was described, characterized by the presence of extra copies of the gene encoding tryptase monomers, generally associated with elevated baseline serum tryptase levels. This condition was defined as hereditary alpha tryptasemia (HαT), and several studies have recently been published detailing the diagnostic and clinical aspects of this genetic trait. Furthermore, additional insights have been gained into the pathogenetic effects and clinical significance of mature tryptase hetero-tetramers. In particular, it will describe the genetics, clinical manifestations, and impact of HαT on other conditions associated with tryptase release, as well as the impact of HαT on defining reference values for baseline tryptase. The present document is intended as an update of the 2019 SIPMeL recommendations in light of the new knowledge on HαT.