Antitrypsin deficiency in pulmonary disease: the significance of intermediate levels

SUMMARY Deficiency of serum alphai anti-trypsin is inherited as an auto-somal recessive trait, with the homozygous state manifested by severe deficiency and the hetero-zygous state by intermediate levels. Homozygotes often develop a distinctive form of pulmonary emphysema, although no correlation between se-verity of lung disease and severity of antitrypsin deficiency has been demonstrated within this group. The relationship of intermediate antitrypsin levels to lung disease is discussed. Three of 51 healthy persons and 17 of 146 consecutive patients with pulmonary disease had intermediate antitrypsin levels. This difference in prevalence is not statistically significant. The character of pulmonary disease in 18 inter