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European Respiratory Society statement : Diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency

Miravitlles, Marc; Dirksen, Asger; Ferrarotti, Ilaria; Koblizek, Vladimir; Lange, Peter; Mahadeva, Ravi; McElvaney, Noel G.; Parr, David; Piitulainen, Eeva LU and Roche, Nicolas, et al. (2017) In European Respiratory Journal 50(5).
Abstract

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... (More)

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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European Respiratory Journal
volume
50
issue
5
publisher
Eur Respiratory Soc
external identifiers
  • scopus:85039075322
ISSN
0903-1936
DOI
10.1183/13993003.00610-2017
language
English
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yes
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600e3664-c0e9-4a7b-a2c1-ff40a2691af4
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2018-01-22 17:50:20
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2018-10-07 05:04:05
@article{600e3664-c0e9-4a7b-a2c1-ff40a2691af4,
  abstract     = {<p>α<sub>1</sub>-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.</p>},
  articleno    = {1700610},
  author       = {Miravitlles, Marc and Dirksen, Asger and Ferrarotti, Ilaria and Koblizek, Vladimir and Lange, Peter and Mahadeva, Ravi and McElvaney, Noel G. and Parr, David and Piitulainen, Eeva and Roche, Nicolas and Stolk, Jan and Thabut, Gabriel and Turner, Alice and Vogelmeier, Claus and Stockley, Robert A.},
  issn         = {0903-1936},
  language     = {eng},
  number       = {5},
  publisher    = {Eur Respiratory Soc},
  series       = {European Respiratory Journal},
  title        = {European Respiratory Society statement : Diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency},
  url          = {http://dx.doi.org/10.1183/13993003.00610-2017},
  volume       = {50},
  year         = {2017},
}