European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency

Research output: Contribution to journalArticle

Authors

  • Marc Miravitlles
  • Asger Dirksen
  • Ilaria Ferrarotti
  • Vladimir Koblizek
  • Peter Lange
  • Ravi Mahadeva
  • Noel G McElvaney
  • David Parr
  • Eeva Piitulainen
  • Nicolas Roche
  • Jan Stolk
  • Gabriel Thabut
  • Claus Vogelmeier
  • Robert A Stockley

Colleges, School and Institutes

External organisations

  • Pneumology Dept, Hospital Universitari Vall d'Hebron, CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain.
  • Dept of Respiratory Medicine, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark.
  • Dept of Internal Medicine and Therapeutics, Pneumology Unit, IRCCS San Matteo Hospital Foundation, University of Pavia, Pavia, Italy.
  • Pulmonary Dept, Czech Multicentre Research Database of COPD, Charles University, Faculty of Medicine in Hradec Kralove, Hradec Kralove, Czech Republic.
  • Section of Respiratory Medicine, Hvidovre Hospital, Copenhagen University, Copenhagen, Denmark.
  • University of Cambridge
  • Irish Centre for Rare Lung Diseases, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland.
  • Dept of Respiratory Medicine, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK.
  • Dept of Respiratory Medicine and Allergology, Skåne University Hospital, Lund University, Malmö, Sweden.
  • Respiratory and Intensive Care Medicine, Cochin Hospital (AP-HP), University Paris Descartes, Paris, France.
  • Dept of Pulmonology, Leiden University Medical Center, Leiden, The Netherlands.
  • INSERM U1152, Université Paris Diderot, Paris, France.
  • 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 (DZL), Marburg, Germany.
  • Lung Investigation Unit Medicine - University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, UK r.a.stockley@bham.ac.uk.

Abstract

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.

Details

Original languageEnglish
Article number1700610
JournalThe European respiratory journal
Volume50
Issue number5
Publication statusPublished - 30 Nov 2017