European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α 1 -antitrypsin deficiency
Year: 2017
Type: review
Abstract: -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.
Source: European Respiratory Journal
Institutions: Centro de Investigación Biomédica en Red de Enfermedades Respiratorias, Vall d'Hebron Hospital Universitari, University of Copenhagen, Gentofte Hospital, University of Pavia, Policlinico San Matteo Fondazione, Charles University, Hvidovre Hospital, University of Cambridge, National Institute for Health and Care Research, NIHR Cambridge Biomedical Research Centre, Royal College of Surgeons in Ireland, Beaumont Hospital, University Hospital Coventry, University Hospitals Coventry and Warwickshire NHS Trust, Lund University, Skåne University Hospital, Hôpital Cochin, Assistance Publique – Hôpitaux de Paris, Université Paris Descartes, Leiden University Medical Center, Inserm, Hôpital Bichat-Claude-Bernard, Physiopathologie et Epidémiologie des Maladies Respiratoires, Université Paris Diderot, University of Birmingham, Philipps University of Marburg, Universitätsklinikum Gießen und Marburg, German Center for Lung Research, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital Birmingham
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2773851838