TY - JOUR
T1 - European Respiratory Society statement
T2 - Diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency
AU - Miravitlles, Marc
AU - Dirksen, Asger
AU - Ferrarotti, Ilaria
AU - Koblizek, Vladimir
AU - Lange, Peter
AU - Mahadeva, Ravi
AU - McElvaney, Noel G.
AU - Parr, David
AU - Piitulainen, Eeva
AU - Roche, Nicolas
AU - Stolk, Jan
AU - Thabut, Gabriel
AU - Turner, Alice
AU - Vogelmeier, Claus
AU - Stockley, Robert A.
PY - 2017/11/1
Y1 - 2017/11/1
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.
AB - 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.
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U2 - 10.1183/13993003.00610-2017
DO - 10.1183/13993003.00610-2017
M3 - Article
AN - SCOPUS:85039075322
VL - 50
JO - European Respiratory Journal
JF - European Respiratory Journal
SN - 0903-1936
IS - 5
M1 - 1700610
ER -