TY - JOUR T1 - European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α<sub>1</sub>-antitrypsin deficiency JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.00610-2017 VL - 50 IS - 5 SP - 1700610 AU - Marc Miravitlles AU - Asger Dirksen AU - Ilaria Ferrarotti AU - Vladimir Koblizek AU - Peter Lange AU - Ravi Mahadeva AU - Noel G. McElvaney AU - David Parr AU - Eeva Piitulainen AU - Nicolas Roche AU - Jan Stolk AU - Gabriel Thabut AU - Alice Turner AU - Claus Vogelmeier AU - Robert A. Stockley Y1 - 2017/11/01 UR - http://erj.ersjournals.com/content/50/5/1700610.abstract N2 - 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.Description of the best practice in diagnosis and treatment of pulmonary disease in alpha-1 antitrypsin deficiency http://ow.ly/fD3S30fuy4H ER -