Hereditary Alpha Tryptasemia

Hereditary alpha tryptasemia (HAT) is currently considered a fully penetrant genetic trait.An increased germline copy number of the TPSAB1 gene results in HAT.Hereditary alpha tryptasemia is estimated to affect 4%-6% of the Western population.The association between HAT and mast cell disorders is well established.Several studies have demonstrated a correlation between idiopathic anaphylaxis and HAT, with HAT detected in approximately 17% of patients presenting with idiopathic anaphylaxis.Patients exhibiting symptoms of mast cell activation, including anaphylaxis and gastrointestinal manifestations, and with basal serum tryptase (BST) levels exceeding 8 ng/mL should be considered for tryptase genotyping by digital droplet polymerase chain reaction.Currently there are no treatment modalities specific to HAT.Treatment focuses on alleviating symptoms and is intended for long-term management.