Alpha-1 antitrypsin augmentation therapy.

Publication Type	Review
Authors	Wewers M, Crystal R
Journal	COPD
Volume	10 Suppl 1
Pagination	64-7
Date Published	03/01/2013
ISSN	1541-2563
Keywords	Serine Proteinase Inhibitors, alpha 1-Antitrypsin, alpha 1-Antitrypsin Deficiency
Abstract	The therapy of alpha-1 antitrypsin deficiency (AATD) is an example of a medical triumph over a common hereditary disease. Based on the understanding of the pathogens of the disease as a deficiency in liver production of alpha-1 antitrypsin (AAT) resulting from inherited genetic variation in both parental AAT genes, the knowledge that A1AT functions primarily to inhibit neutrophil elastase (NE), and the observation that NE instilled into the lung of experimental animals resulted in emphysema, the concept evolved that the pulmonary manifestations of the disease could be halted by intermittent intravenous infusions of AAT purified from pooled human plasma. Following preliminary clinical studies in the academic community, and then pharmaceutical company development of large scale purification of human AAT, the FDA approved the use of weekly AAT augmentation therapy for AATD following a clinical trial which demonstrated that weekly infusions would raise to normal plasma and lung epithelial fluid levels of AAT in AAT-deficient individuals. The therapy is now used worldwide to treat AATD, the only pulmonary genetic disease with effective therapy for all affected individuals.
DOI	10.3109/15412555.2013.764402
PubMed ID	23527997