Diagnosing α1-antitrypsin deficiency: how to improve the current algorithm

European Respiratory Review : an Official Journal of the European Respiratory Society
Noel G McElvaney

Abstract

Over the past 10-15 years, the diagnosis of α1-antitrypsin deficiency (AATD) has markedly improved as a result of increasing awareness and the publication of diagnostic recommendations by the American Thoracic Society (ATS)/European Respiratory Society (ERS). Nevertheless, the condition remains substantially underdiagnosed. Furthermore, when AATD is diagnosed there is a delay before treatment is introduced. This may help explain why AATD is the fourth most common cause of lung transplantation. Clearly we need to do better. The ATS/ERS recommend testing high-risk groups, such as: all chronic obstructive pulmonary disease patients; all nonresponsive asthmatic adults/adolescents; all cases of cryptogenic cirrhosis/liver disease; subjects with granulomatosis with polyangitis; bronchiectasis of unknown aetiology; panniculitis and first-degree relatives of patients with AATD. In terms of laboratory diagnosis, measurement of α1-antitrypsin levels will identify patients with protein deficiency, but cannot differentiate between the various genetic subtypes of AATD. Phenotyping is the current gold standard for detecting rare variants of AATD (except null variants), while advances in molecular diagnostics are making genotyping more effect...Continue Reading

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Citations

Jul 29, 2016·Nature Reviews. Disease Primers·Catherine M GreeneNoel G McElvaney
Aug 21, 2016·American Journal of Clinical Pathology·Neval AkbasSridevi Devaraj
Nov 5, 2016·Expert Review of Respiratory Medicine·Maria Paula Henao, Timothy J Craig
Jan 29, 2017·Seminars in Diagnostic Pathology·Mark R Wick
Mar 13, 2017·The Journal of Allergy and Clinical Immunology. in Practice·Theodore KelbelTimothy Craig
Jan 7, 2018·BMJ Case Reports·Diana G PedreiraJorge Mercier
Dec 2, 2017·The European Respiratory Journal·Marc MiravitllesRobert A Stockley
Jan 6, 2017·The European Respiratory Journal·Joan B Soriano, Ravi Mahadeva
Feb 16, 2019·The European Respiratory Journal·Marc MiravitllesUNKNOWN Members of the EARCO Clinical Research Collaboration
Oct 27, 2017·European Respiratory Review : an Official Journal of the European Respiratory Society·Haitham S Al Ashry, Charlie Strange
Jan 16, 2018·Trauma, Violence & Abuse·Ramona AlaggiaRusan Lateef
Dec 2, 2017·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·Farrel J Buchinsky, Neil K Chadha
Feb 8, 2020·Respirology : Official Journal of the Asian Pacific Society of Respirology·Jack DummerAnne E Holland
Jul 13, 2018·Orphanet Journal of Rare Diseases·María Torres-DuránFrancisco Dasí
Jun 24, 2020·Current Allergy and Asthma Reports·Roxana Cortes-Lopez, Igor Barjaktarevic
Oct 30, 2020·International Journal of Chronic Obstructive Pulmonary Disease·Irene BelmonteFrancisco Rodríguez-Frías
Mar 7, 2021·Clinical Chemistry and Laboratory Medicine : CCLM·Alice M BalderacchiIlaria Ferrarotti
Jun 14, 2021·Ageing Research Reviews·Abdul-Hamid EmwasJoanna Izabela Lachowicz

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