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

Research output: Contribution to journalArticlepeer-review

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

  • Copenhagen University Hospitals
  • University of Pavia
  • University of Cambridge
  • University Hospitals Coventry and Warwickshire NHS Trust
  • Lunds Universitet
  • AP-HP Hôpital Saint Antoine
  • Leiden University Medical Center
  • Université Paris Denis Diderot
  • Queen Elizabeth Hospital Birmingham
  • Hospital Universitari Vall d'Hebron
  • Charles University
  • The Royal College of Surgeons in Ireland
  • Philipps-Universitat Marburg

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