title: Issues in the diagnosis of alpha 1-antitrypsin deficiency.
abstract: Alpha 1-antitrypsin deficiency is a relatively common genetic disease that is underrecognized and underdiagnosed. Early diagnosis in the asymptomatic patient helps modify lifestyle choices to reduce the risk of emphysema. In 2003, the American Thoracic Society and the European Respiratory Society issued guidelines to improve standards in diagnosing alpha(1)-antitrypsin deficiency. This review highlights key recommendations for diagnosis of alpha(1)-antitrypsin deficiency, including the different types of diagnostic tests recommended in the guidelines. Options for patient treatment will be discussed.
authors.affiliation: Executive Care Center for Asthma, Allergy, and Respiratory Diseases, UCLA Medical Center, Los Angeles, CA 90095, USA. grachelefsky@mednet.ucla.edu
authors.forename: Gary
authors.initials: G
authors.lastname: Rachelefsky
authors.forename: D Kyle
authors.initials: DK
authors.lastname: Hogarth
mesh_terms: D004646:Emphysema / Q000209:etiology / Q000235:genetics / Q000601:surgery; D006801:Humans; D017410:Practice Guidelines as Topic; D000515:alpha 1-Antitrypsin / Q000097:blood / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery
chemical_list: D000515:alpha 1-Antitrypsin