Send to:

Choose Destination
See comment in PubMed Commons below
Respir Med. 2009 Mar;103(3):335-41. doi: 10.1016/j.rmed.2008.10.006. Epub 2008 Nov 17.

Detection of alpha-1 antitrypsin deficiency: a review.

Author information

  • 1Cleveland Clinic Foundation, Respiratory Institute, OH 44195, USA.


Screening studies reveal a much larger number of individuals expected to have alpha-1 antitrypsin deficiency than is clinically recognized, with estimates that only about 2-10% of such individuals have been diagnosed. In the context that recognition of alpha-1 antitrypsin may prompt specific interventions (e.g., smoking avoidance, testing of family members, genetic counseling, and consideration of augmentation therapy), diagnosis is important, inviting much attention for efforts to identify affected individuals. Strategies to identify affected individuals include both population-based screening and targeted detection, and available studies have employed both approaches, though large-scale population-based screening is challenging. As reviewed in this paper, targeted-detection studies have generally produced a higher rate of detecting disease, and tend to be more successful with easier sampling techniques. Strategies to enhance detection in targeted studies have included awareness campaigns, easy testing techniques (such as evaluation of dried blood spots and home, confidential testing), and inclusive criteria for testing which span the full spectrum of clinical manifestations of alpha-1 antitrypsin deficiency.

[PubMed - indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk