α1-Antitrypsin Deficiency

Abstract

Two brothers died in their thirties of chronic pulmonary insufficiency. Physiological studies of the proband suggested generalized destructive emphysema, although anatomical studies were not performed. An inherited deficiency of the serum globulin, α 1 -antitrypsin, was identified, and measurements of the serum trypsin inhibitor capacity were made on members of the family. The association between antitrypsin deficiency and pulmonary emphysema is firmly established. Deficient antienzyme activity may permit increased degradation of connective tissue fibers which yield on resynthesis under normal tensile stress, and cause enlargement of peripheral air sacs. Since emphysema is a deformity of lung connective tissue that appears with increasing frequency as age advances, it seems most likely that persons with α 1 -antitrypsin deficiency have a lung structure that is old before its time.