Pulmonary Emphysema and Alpha1-Antitrypsin Deficiency

A literature review is presented of a deficiency of the major serum alpha1-globulin, alpha1-antitrypsin, a rare inherited autosomal recessive trait which is associated with development of chronic obstructive bronchopulmonary disease, especially emphysema. The serum level of alpha1-antitrypsin has a trimodal distribution among family members which consists of a severe deficiency or homozygous state, an intermediate deficiency or heterozygous state, and the normal state. The unique characteristics of pulmonary emphysema in each state are discussed and the methods for measuring the serum level of alpha1-antitrypsin are described. A mechanism is proposed, as speculated by several authors, by which this serum protein deficiency might produce pulmonary lesions. Implications for the future are presented should further research define clearly the relationship between alpha1-antitrypsin deficiency and pulmonary emphysema.