Alpha 1-antitrypsin-deficiency-related emphysema.
BACKGROUND
A congenital cause of emphysema resulting from alpha 1-antitrypsin (A1AT) deficiency affects 1 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 A1AT deficiency.


METHODS
Using the key words "alpha 1-antitrypsin deficiency," "chronic obstructive pulmonary disease," and "emphysema," the MEDLINE files were searched from 1985 to the present. Data from articles published before 1985 were accessed from cross-reference of the recent articles.


CONCLUSIONS
Unlike smoker's emphysema, A1AT 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 A1AT in quantities large enough for intravenous replacement or augmentation therapy. Future treatment for the disease includes synthetic elastase inhibitors and an aerosolized formulation of A1AT, which is currently under investigation.
Barker
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AF
Pulmonary and Critical Care Medicine Division, Oregon Health Sciences University, Portland 97201.
D000397:Air Pollution / Q000517:prevention & control; D002985:Clinical Protocols / Q000592:standards; D004646:Emphysema / Q000151:congenital / Q000453:epidemiology* / Q000209:etiology; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors; D000074606:Smoking Prevention; D000515:alpha 1-Antitrypsin / Q000032:analysis; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin