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Frequency of Heterozygous and Homozygous Alphax1-Antitrypsin Deficiencies in Patients with Pulmonary Emphysema.

Jack Lieberman, M.D., F.A.C.P.
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Duarte and Los Angeles, California

Ann Intern Med. 1969;70(5):1098. doi:10.7326/0003-4819-70-5-1098_3
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Homozygous alpha1-antitrypsin deficiency is known to predispose to the development of pulmonary emphysema. Heterozygotes are not known to be so predisposed. In a study of the relatives of a homozygous proband, three heterozygous individuals had histories of chronic pulmonary disease. Because of this observation, 66 patients hospitalized with pulmonary emphysema were studied to determine the relative frequencies of homozygous and heterozygous deficiency. Trypsin inhibitory capacity (TIC) of serum was assayed spectrophotometrically with BAEE substrate.

Approximately 25% of the patients hospitalized for pulmonary emphysema had a deficiency of antitrypsin activity. However, in patients less than 50 years of age the incidence


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