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Appraisal of the evidence linking hereditary α-tryptasemia with mast cell disorders, hypermobility and dysautonomia. | LitMetric

Appraisal of the evidence linking hereditary α-tryptasemia with mast cell disorders, hypermobility and dysautonomia.

Allergy Asthma Proc

From the Division of Allergy and Immunology, Department of Medicine, University of California San Diego, La Jolla, California and.

Published: January 2025

Since its first description more than a decade ago, our understanding of the clinical impact of hereditary alpha-tryptasemia has continued to evolve. First considered to be a genetic disorder with a subset of patients having a syndromic presentation composed of connective tissue abnormalities, symptoms of autonomic dysfunction, and findings of mast cell activation, we now know that hereditary alpha-tryptasemia is a common genetic trait and modifier of mast cell-mediated reactions. More recent studies have shown some previously held associations with congenital hypermobility and postural orthostatic tachycardia syndrome (POTS) to be lacking, and illuminated previously unappreciated associations with clonal and nonclonal mast cell disorders. With the discovery of heterotetrameric tryptases and demonstration of their unique functional activities, the importance of tryptase gene composition in general has begun to take focus. Hereditary alpha-tryptasemia exists at the end of a spectrum of alpha-tryptase expression and as a natural overexpression model of this protein, brought to the fore the potential of tryptase genotyping as a genetic biomarker for anaphylaxis severity. These data and future studies hold the promise of enhancing our understanding of the role that tryptases play in health and disease.

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Source
http://dx.doi.org/10.2500/aap.2025.46.240088DOI Listing

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