Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians
journal contributionposted on 2021-11-11, 15:31 authored by Alessandro Franciosi, Tomas CarrollTomas Carroll, Noel G McElvaneyNoel G McElvaney
α1-antitrypsin deficiency (AATD) remains the only readily identified genetic cause of chronic obstructive pulmonary disease (COPD). Furthermore, there is growing evidence that even a moderate deficiency increases the risk of lung disease among smokers. Despite these facts, the uptake of testing for AATD in at-risk populations remains low for many reasons, and a lack of clarity among clinicians regarding the most appropriate diagnostic techniques presents a major deterrent. This Personal View addresses the benefits of diagnosis, the technical basis of the available diagnostic methods, and possible clinical confounders for each test. We include a series of unusual cases encountered at our National Centre of Expertise to provide context. The topics covered should equip clinicians with the core knowledge required to confidently assess patients for AATD.
CommentsThe original article is available at https://www.thelancet.com
Published CitationFranciosi AN, Carroll TP, McElvaney NG. Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians. Lancet Respir Med. 2019;7(12):1059-1067.
Publication Date16 July 2019
- Beaumont Hospital
- Respiratory Medicine
- Population Health and Health Services
- Immunity, Infection and Inflammation
- Published Version (Version of Record)
AsthmaGenotyping TechniquesLiver DiseasesPhenotypePulmonary Disease, Chronic Obstructivealpha 1-Antitrypsinalpha 1-Antitrypsin DeficiencyClinical SciencesPublic Health and Health ServicesOther Medical and Health Sciencesα1-antitrypsin deficiency (AATD)chronic obstructive pulmonary disease (COPD)genetic causelung diseasesmokersRespiratory Diseases