The prevalence of alpha-1 antitrypsin deficiency in Ireland

T.P. Carroll, C.A. O'Connor, O. Floyd, J. McPartlin, D.P. Kelleher, G. O'Brien, B.D. Dimitrov, V.B. Morris, Clifford Taggart, N.G. McElvaney

Research output: Contribution to journalArticlepeer-review

58 Citations (Scopus)

Abstract

Background: Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection programmes for AATD in patients with chronic obstructive pulmonary disease (COPD), non-responsive asthma, cryptogenic liver disease and first degree relatives of known AATD patients.
Original languageEnglish
Article number91
JournalRespiratory Research
Volume12:91
DOIs
Publication statusPublished - 13 Jul 2011

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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