European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency
Language English Country England, Great Britain Media electronic-print
Document type Journal Article, Review
PubMed
29191952
DOI
10.1183/13993003.00610-2017
PII: 50/5/1700610
Knihovny.cz E-resources
- MeSH
- alpha 1-Antitrypsin Deficiency diagnosis therapy MeSH
- Adult MeSH
- Genetic Testing MeSH
- Smoking adverse effects MeSH
- Humans MeSH
- Lung Diseases diagnosis therapy MeSH
- Advisory Committees MeSH
- Randomized Controlled Trials as Topic MeSH
- Practice Guidelines as Topic MeSH
- Societies, Medical MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
- Geographicals
- Europe MeSH
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 Medicine Cambridge NIHR BRC University of Cambridge Cambridge UK
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
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
References provided by Crossref.org
Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project
Diagnosis and management of α1-antitrypsin deficiency in Europe: an expert survey
Safety of biweekly α1-antitrypsin treatment in the RAPID programme
