Alpha l-Antitrypsin-Deficiency-Related Emphysema

Abstract: Background: A congenital cause of emphysema resulting from alpha I-antitrypsin (AlAT) deficiency affects I in 2500 individuals and could account for emphysema in 2 percent of all persons with emphysema. Individuals aged 30 to 45 years with chronic: shortness of breath and coughing could have AlAT deficiency. MetlHHJs: Using the key words "alpha I-antitrypsin deficiency, " "chronic obstructive pulmonary disease," and "emphysema, " the MEDLINE rues were searched from 1985 to the present. Data from articles published before 1985 were accessed from cross-reference of the recent articles. Results tmd Conclusions: Unlike smoker's emphysema, AlAT deficiency is panacinar, appears in middle-aged patients, and is more severe at the lung bases. Chronic bronchitis, mucous hypersecretion, and liver disease, as well as a family history of emphysema, are associated conditions. Clinical management includes the avoidance of smoking and atmospheric pollution. Also available is purified, functional human AIAT in quantities large enough for intravenous replacement or augmentation therapy. Future treatment for the disease includes synthetic elastase inhibitors and an aerosolized formulation of AIAT, wbich is currently under investigation. (J Am Board Fam Pratt 1992; 5:489-93.) Emphysema is the result of progressive and irre