α1-Antitrypsin deficiency and augmentation therapy in emphysema
James K. Stoller, MDAddress reprint requests to J.K.S., Head, Section of Respiratory Therapy, Department of Pulmonary Disease, Cleveland Clinic Foundation, One Clinic Center, 9500 Euclid Avenue, Cleveland, Ohio 44195.
Since the first description of α1-antitrypsin deficiency as a cause of emphysema in 1963, major strides have been made in understanding the structure and function of this important antiprotease, its role in the defense against emphysema, and in new treatment strategies. In order to elucidate the pathogenesis of α1-antitrypsin-associated emphysema and recent developments in therapy for this disease, this paper considers current understanding of the pathogenesis of emphysema, recent information regarding the structure and function of the molecule, and more recent developments in augmentation therapy. The author also discusses the national registry that has been organized for better understanding of the natural history of α1-antitrypsin deficiency in a relatively unselected population.