Heterozygous and Homozygous Alpha1-Antitrypsin Deficiency in Patients with Pulmonary Emphysema

Abstract

Homozygous deficiency of alpha1-atitrypsin is known to predispose to pulmonary emphysema. Measurement of the trypsin inhibitory capacity (TIC) of serum specimens from 28 relatives of a homozygous proband suggested that both heterozygotes and homozygotes may have an increased predisposition to lung disease, and possibly to peptic ulcer. Four of 19 heterozygotes and two homozygotes in this family had definite histories of pulmonary disease. After this family study, the TIC of serum was measured in 66 patients hospitalized for pulmonary emphysema at a Veterans Administration hospital. Of these, 25.8 per cent were found to be deficient; seven were homozygotes, and 10 heterozygotes. Of 23 patients with emphysema under 50 years of age, 48 per cent were deficient. A history of peptic-ulcer disease was obtained from 35.3 per cent of the antitrypsin-deficient, as compared to 28.6 per cent of the nondeficient patients with emphysema, a difference statistically not significant.