Issues in the diagnosis of α1-antitrypsin deficiency

α1-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 α1-antitrypsin deficiency. This review highlights key recommendations for diagnosis of α1-antitrypsin deficiency, including the different types of diagnostic tests recommended in the guidelines. Options for patient treatment will be discussed.