Curr Opin Pulm Med 1996 Mar;2(2):155-60

Lung disease due to alpha 1-antitrypsin deficiency

Wiedemann HP, Stoller JK
Department of Pulmonary and Critical Care Medicine, Cleveland Clinic Foundation,
OH 44195, USA.

Abstract
The association between alpha 1-antitrypsin deficiency and heritable emphysema
was discovered in 1963. Subsequent epidemiologic evidence suggested that a serum
alpha 1-antitrypsin level of 11 mumol/L (about 80 mg/dL by the still-used
"commercial standard"), which is about 35% of the normal level, represents a
"threshold" value, below which the risk of developing emphysema is increased and
above which the emphysema risk is not increased. Recently, the ability to
isolate and purify the alpha 1-antitrypsin protein from human blood has made
"specific" augmentation therapy possible. Intravenous infusion of alpha
1-antitrypsin raises serum and alveolar levels above the putative thresholds,
but clinical efficacy (i.e., decreased rate of decline in lung function and/or
improved survival) remains presumptive. Based on available evidence, the
American Thoracic Society recommends augmentation therapy for individuals with
both a documented severe deficiency of alpha 1-antitrypsin and fixed airflow
obstruction