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• W3136123295 abstract "Hereditary alpha-tryptasemia (HαT) is an autosomal dominant genetic trait found in 4% to 6% of the general population and defined by excess copies of alpha-tryptase at <i>TPSAB1</i>. Elevated basal serum tryptase (sBT >8 ng/mL) is a defining feature of HαT and appears to result from increased pro-alpha-tryptase synthesis and secretion rather than mast cell activation. It is estimated that approximately one-third of individuals with HαT have associated symptoms, including cutaneous, gastrointestinal, atopic, musculoskeletal, autonomic, and neuropsychiatric manifestations. HαT is found at a disproportionately high rate in systemic mastocytosis and idiopathic anaphylaxis, and is a modifying factor that independently increases the incidence and severity of anaphylaxis. The varied phenotypes associated with HαT may, in part, result from coinheritance of other genetic variants, increased expression of α-/ß-tryptase heterotetramers, and/or overexpression of pro-alpha-tryptase, although further studies are needed. There is an accurate diagnostic test available to confirm HαT in patients that can be used in combination with sBT to help risk-stratify individuals in whom bone marrow biopsy is being considered. There is no specific treatment for symptoms associated with HαT, and management is focused on controlling clinical manifestations with mast cell mediator antagonists, aspirin, inhalers, epinephrine, omalizumab, and involvement of other specialists." @default.
• W3136123295 created "2021-03-29" @default.
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• W3136123295 date "2021-06-01" @default.
• W3136123295 modified "2023-09-29" @default.
• W3136123295 title "The Genetic Basis and Clinical Impact of Hereditary Alpha-Tryptasemia" @default.
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• W3136123295 doi "https://doi.org/10.1016/j.jaip.2021.03.005" @default.
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