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Utility of routine screening for alpha-1 antitrypsin deficiency in patients with bronchiectasis
  1. Luis Carreto1,
  2. Meghan Morrison2,
  3. Jackie Donovan3,
  4. Simon Finch4,
  5. Gan Liang Tan5,
  6. Tom Fardon6,7,
  7. Robert Wilson8,
  8. Elisabeth Furrie9,
  9. Michael Loebinger8,
  10. James D Chalmers4
  1. 1 Respiratory Medicine, Hospital Professor Fernando Fonseca (HFF), Lisbon, Portugal
  2. 2 School of Medicine, University of Dundee, Dundee, UK
  3. 3 Biochemistry, Royal Brompton and Harefield NHS Foundation Trust, London, UK
  4. 4 Division of Molecular and Clinical Medicine, University of Dundee, Dundee, UK
  5. 5 Respiratory and Critical Care Medicine, Singapore General Hospital, Singapore
  6. 6 Respiratory Medicine, University of Dundee, Dundee, UK
  7. 7 Respiratory Medicine, NHS Tayside, Dundee, UK
  8. 8 Host Defence Unit, Division of Respiratory Medicine, Royal Brompton Hospital, London, UK
  9. 9 Department of Immunology, Department of Medicine, Ninewells Hospital, Dundee, UK
  1. Correspondence to Dr James D Chalmers, Tayside Respiratory Research Group, University of Dundee, Dundee DD1 9SY, UK; jchalmers{at}dundee.ac.uk

Abstract

Alpha-1 antitrypsin deficiency (AATD) is a cause of bronchiectasis. Guidelines for bronchiectasis from the British Thoracic Society do not recommend to routinely test patients for AATD. In contrast, guidelines for AATD recommend routine screening. This contradiction, in part, results from the lack of data from large studies performing comprehensive screening. We screened 1600 patients with bronchiectasis at two centres in the UK from 2012 to 2016. In total, only eight individuals with AATD were identified representing 0.5% of the overall population. We conclude that routine screening for AATD in bronchiectasis in the UK has a low rate of detection. Further studies are required in different geographical regions, which may have a higher prevalence of AATD.

  • bronchiectasis
  • alpha1 antitrypsin deficiency
  • clinical epidemiology
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Footnotes

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  • Contributors Study design: JDC, TF, EF, RW and ML. Collected data: LC, MM, JD, SF, GLT, TF, ML and JDC. Performed analysis: LC, MM, ML and JDC. Wrote the manuscript: LC and JDC. Edited the manuscript and approval the final version: all authors.

  • Funding This study was funded by British Lung Foundation (BLF chair of respiratory research).

  • Competing interests ML declares personal fees from Grifols, Bayer, Polyphor and Astrazeneca. JDC declares research grants or personal fees from Glaxosmithkline, Boehringer-Ingelheim, Astrazeneca, Pfizer, Bayer, Grifols, Aradigm, Napp and Insmed outside the submitted work.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.