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Chronic Obstructive Pulmonary Disease and Heterozygous Alpha1-Antitrypsin Deficiency

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The New York Hospital-Cornell University Medical College, New York, N.Y.

Ann Intern Med. 1970;72(4):595-596. doi:10.7326/0003-4819-72-4-595
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Interest in alpha1-antitrypsin has been stimulated by finding a high prevalence of chronic obstructive pulmonary disease in patients deficient in this normally occurring serum protein (1). Family studies suggest that the structure and quantity of alpha1-antitrypsin are determined by at least seven codominant alleles (2). These genes have been designated as the Pi (proteinase inhibitor) system. The majority of normal persons have been identified as homozygous for the major Pi type (PiM). Of the less frequent Pi types only PiZ in the homozygous state (ZZ) has until recently been associated with a predisposition to the disease. Alpha1-antitrypsin constitutes the greater


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