Lung disease due to alpha 1-antitrypsin deficiency.
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.
Wiedemann
H P
HP
Department of Pulmonary and Critical Care Medicine, Cleveland Clinic Foundation, OH 44195, USA.
Stoller
J K
JK
D000402:Airway Obstruction / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D007262:Infusions, Intravenous; D008168:Lung / Q000503:physiopathology; D011650:Pulmonary Alveoli / Q000378:metabolism; D011656:Pulmonary Emphysema / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D012307:Risk Factors; D015996:Survival Rate; D000515:alpha 1-Antitrypsin / Q000008:administration & dosage / Q000032:analysis / Q000302:isolation & purification / Q000627:therapeutic use; D019896:alpha 1-Antitrypsin Deficiency / Q000097:blood / Q000150:complications* / Q000235:genetics / Q000503:physiopathology
D000515:alpha 1-Antitrypsin