Diagnosis and treatment of pulmonarydisease in α1-antitrypsin deficiency: a statement of European Respiratory Society

Abstract

Alfa-1-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 lung injury in AATD is closely associated with smoking, but progressive lung disease could occur even in never-smokers. A number of individuals with AATD remain undiagnosed and therefore do not receive appropriate care and treatment. The most recent international document on AATD was the joint statement of the American Thoracic Society and the European Respiratory Society published in 2003. Thereafter, 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 randomized 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 important to createnational and international registries and to 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.