Alpha-1 antitrypsin augmentation therapy

Mark D. Wewers, Ronald G. Crystal

Research output: Contribution to journalReview article

24 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)64-67
Number of pages4
JournalCOPD: Journal of Chronic Obstructive Pulmonary Disease
Volume10
Issue numberS1
DOIs
Publication statusPublished - 1 Mar 2013

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Keywords

  • Alpha-1 antitrypsin
  • Augmentation therapy
  • Pulmonary genetic disease

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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