Tüsüz Önata E, Özdemir Ö, Savaşan S. Hereditary alpha tryptasemia and clinical implications. World J Clin Cases 2025; 13(21): 104723 [DOI: 10.12998/wjcc.v13.i21.104723]
Corresponding Author of This Article
Öner Özdemir, MD, Professor, Division of Allergy and Immunology, Department of Pediatrics, Sakarya Research and Training Hospital, Sakarya University, Faculty of Medicine, Adnan Menderes Cad, Sağlık Sok, 195 Adapazarı, Sakarya 54100, Türkiye. onerozdemir@sakarya.edu.tr
Research Domain of This Article
Allergy
Article-Type of This Article
Minireviews
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Jul 26, 2025; 13(21): 104723 Published online Jul 26, 2025. doi: 10.12998/wjcc.v13.i21.104723
Hereditary alpha tryptasemia and clinical implications
Ece Tüsüz Önata, Öner Özdemir, Süreyya Savaşan
Ece Tüsüz Önata, Division of Allergy and Immunology, Department of Pediatrics, Sakarya Research and Training Hospital, Medical Faculty, Sakarya University, Sakarya 54100, Türkiye
Öner Özdemir, Division of Allergy and Immunology, Department of Pediatrics, Sakarya Research and Training Hospital, Sakarya University, Faculty of Medicine, Sakarya 54100, Türkiye
Süreyya Savaşan, Department of Pediatrics, Central Michigan University College of Medicine, Mt Pleasant, MI 48859, United States
Süreyya Savaşan, Children’s Hospital of Michigan, Hematology/Oncology, Detroit, MI 48201, United States
Author contributions: Tüsüz Önata E performed the research; Tüsüz Önata E, Özdemir Ö, and Savaşan S designed the article and wrote the manuscript; All authors read and approved the final version of the manuscript to be published.
Conflict-of-interest statement: All authors declare no conflicts of interest in publishing the manuscript.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Öner Özdemir, MD, Professor, Division of Allergy and Immunology, Department of Pediatrics, Sakarya Research and Training Hospital, Sakarya University, Faculty of Medicine, Adnan Menderes Cad, Sağlık Sok, 195 Adapazarı, Sakarya 54100, Türkiye. onerozdemir@sakarya.edu.tr
Received: December 31, 2024 Revised: March 12, 2025 Accepted: March 20, 2025 Published online: July 26, 2025 Processing time: 118 Days and 11.3 Hours
Abstract
Hereditary alpha tryptasemia was first described in 2016 and is the most common (up to 72%) cause of elevated serum basal tryptase (TPS). The clinical presentation of this condition, which is caused by copy number gains in the TPSAB1 gene encoding serum α TPS, is variable for each patient. Some patients are asymptomatic, whereas in others, especially those with increased mast cell activation, it has been associated with a higher risk of anaphylaxis. Better characterization of this entity is important to identify at-risk patients and to develop new treatment strategies. This review provided an overview of hereditary alpha tryptasemia and increased awareness of this condition by discussing the current information in the literature.
Core Tip: Hereditary alpha tryptasemia was first described in 2016 and is the most common cause of elevated serum basal tryptase (TPS). The clinical presentation of this condition, which is caused by copy number gains in the TPSAB1 gene encoding serum α TPS, is variable for each patient.
