Objectives

To characterize the clinical and laboratory course of patients with severe alpha 1-antitrypsin deficiency whether or not the patient is undergoing long-term augmentation therapy.

Background

A hereditary disorder, patients with low serum levels of alpha-1-antitrypsin are at an increased risk for the early onset of emphysema. The only approved treatment for alpha-1-antitrypsin deficiency is augmentation therapy using a purified preparation of human alpha-1-antitryspin. Sample sizes for a randomized controlled clinical trial of augmentation therapy were determined to be infeasible; therefore, a multi-center registry was initiated in 1988 to explore the natural history of the disease and the relative efficacy of augmentation therapy in patients with a severe deficiency of alpha-1-antitrypsin.

Participants

Eligible subjects included individuals 18 years of age or greater for whom the Central Laboratory confirmed that the serum alpha 1-antitrypsin level is < 11 rnicromolar, or a ZZ genotype confirmed by DNA gene-probe analysis. Individuals with alpha 1-antitrypsin deficiency were accepted into the Registry independent of status of augmentation therapy. However, if the individual was receiving therapy, the serum alpha 1-antitrypsin phenotype and level in the absence of therapy were confirmed by the Central Laboratory. A total of 1,129 subjects were enrolled from 37 clinical centers between March 1989 and October 1992. Follow-up continued through April 1996.

Conclusions

Subjects receiving augmentation therapy had decreased mortality risk during follow-up. FEV1 decline among all subjects did not differ by augmentation therapy; however, among subjects with FEV1 35-49% predicted, FEV1 decline was significantly slower for subjects on augmentation therapy than for those not receiving therapy. (Am J Respir Crit Care Med, 1998; 158:49-59)

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