α1-antitrypsin deficiency (AATD) is the most common hereditary disorder in adults. It is associated with an increased risk of developing pulmonary emphysema and liver disease. The pulmonary emphysema in AATD is strongly linked to smoking, but even a proportion of never-smokers develop progressive lung disease. A large proportion of individuals affected remain undiagnosed and therefore without access to appropriate care and treatment.The most recent international statement on AATD was published by the American Thoracic Society and the European Respiratory Society in 2003. Since then there has been a continuous development of novel, more accurate and less expensive genetic diagnostic methods. Furthermore, new outcome parameters have been developed and validated for use in clinical trials and a new series of observational and randomised clinical trials have provided more evidence concerning the efficacy and safety of augmentation therapy, the only specific treatment available for the pulmonary disease associated with AATD.As AATD is a rare disease, it is crucial to organise national and international registries and collect information prospectively about the natural history of the disease. Management of AATD patients must be supervised by national or regional expert centres and inequalities in access to therapies across Europe should be addressed.

Centre for Translational Inflammation Research University of Birmingham Birmingham UK

Dept of Internal Medicine and Therapeutics Pneumology Unit IRCCS San Matteo Hospital Foundation University of Pavia Pavia Italy

Dept of Medicine Cambridge NIHR BRC University of Cambridge Cambridge UK

Dept of Medicine Pulmonary and Critical Care Medicine University Medical Center Giessen and Marburg Philipps Universität Marburg Member of the German Center for Lung Research Marburg Germany

Dept of Pulmonology Leiden University Medical Center Leiden The Netherlands

Dept of Respiratory Medicine and Allergology Skåne University Hospital Lund University Malmö Sweden

Dept of Respiratory Medicine Gentofte Hospital University of Copenhagen Hellerup Denmark

Dept of Respiratory Medicine University Hospitals Coventry and Warwickshire NHS Trust Coventry UK

INSERM U1152 Université Paris Diderot Paris France

Irish Centre for Rare Lung Diseases Royal College of Surgeons in Ireland Beaumont Hospital Dublin Ireland

Lung Investigation Unit Medicine University Hospitals Birmingham NHS Foundation Trust Queen Elizabeth Hospital Birmingham UK

Pneumology Dept Hospital Universitari Vall d'Hebron CIBER de Enfermedades Respiratorias Barcelona Spain

Pulmonary Dept Czech Multicentre Research Database of COPD Charles University Faculty of Medicine in Hradec Kralove Hradec Kralove Czech Republic

Respiratory and Intensive Care Medicine Cochin Hospital University Paris Descartes Paris France

Section of Respiratory Medicine Hvidovre Hospital Copenhagen University Copenhagen Denmark

Service de Pneumologie et Transplantation Pulmonaire Hôpital Bichat Paris France

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Eur Respir J. 2018 Mar 8;51(3):1702662. doi: 10.1183/13993003.02662-2017. PubMed

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