Therapy for Alpha 1-Antitrypsin Deficiency

Abstract

First reported by Laurell and Erikkson in 1963, alpha 1-antitrypsin deficiency has received considerable study. With a prevalence comparable to cystic fibrosis, this codominant autosomal recessive disease is present in 2% to 5% of patients with emphysema. Isolation and purification of the alpha 1-antitrypsin molecule has made augmentation therapy possible, and a variety of strategic approaches are available. In addition, advances in gene therapy have further broadened the potential for future therapy. Finally, results from the National Registry for Patients with Severe Deficiency of Alpha 1-Antitrypsin may further guide optimal therapy.