Publication Date

10-2024

Download

Download Full Text (343 KB)

Abstract

Introduction Hereditary alpha tryptasemia (HaT) is a rare genetic disorder characterized by elevated serum tryptase levels due to duplication or triplication of the TPSAB1 gene. Affecting 6 to 8 percent of the population, HaT presents with diverse symptoms, including idiopathic anaphylaxis, skin rashes, and gastrointestinal issues. This report highlights a case that underscores the complexities and diagnostic challenges of HaT. Case Description A 4-year-old male presented with recurrent skin rashes and gastrointestinal symptoms following ingestion of certain foods, despite negative allergy tests. Persistent symptoms led to further investigations, revealing elevated tryptase levels of 10.3 ng/ml, 12.1 ng/ml, and 8.3 ng/ml over several months. The c-Kit D816V mutation test was negative, prompting genetic testing for TPSAB1 CNV, which confirmed HaT. Discussion The diagnosis of HaT in this patient illustrates the need for a comprehensive diagnostic approach in individuals with recurrent anaphylaxis and unexplained allergic reactions. Elevated tryptase levels served as a crucial biomarker, guiding genetic testing and confirming HaT. This case highlights the importance of early identification and management of HaT to prevent severe systemic reactions. As clinical understanding of HaT evolves, integrating genetic testing into routine practice will enhance diagnostic accuracy and patient care.

Disciplines

Allergy and Immunology

Notes

Presented at the 2024 American College of Allergy, Asthma & Immunology's Annual Scientific Meeting; Boston, Massachusetts; Oct 24-28, 2024.

Elevated Tryptase Level Identifies A Case Of Hereditary Alpha Tryptasemia

Share

COinS