Hereditary Alpha Tryptasemia

• Published in: Immunology and allergy clinics of North America Vol. 38; no. 3; pp. 483 - 495
• Main Author: Lyons, Jonathan J., MD
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01-08-2018
• Subjects: Allergy and Immunology; Autosomal dominant; Genotyping; Hypertryptasemia; Mast cell activation; Autosomal dominant; Hypertryptasemia; Mast cell activation; Genotyping
• ISSN: 0889-8561; 1557-8607
• DOI: 10.1016/j.iac.2018.04.003

Hereditary alpha tryptasemia is an autosomal dominant genetic trait caused by increased germline copies of TPSAB1 encoding alpha-tryptase. Individuals with this trait have elevated basal serum tryptase, and may present with associated multisystem complaints. Both basal serum tryptase levels and severity of clinical symptoms display a gene-dose relationship with TPSAB1 , whereby higher tryptase levels and greater symptom severity are correlated with increasing numbers of alpha-encoding TPSAB1 . As the functional effects of increased basal serum tryptase and/or altered tryptase gene expression are elucidated, greater insights will be gained into the symptoms associated with hereditary alpha tryptasemia and their potential therapy.