Screening for Heterozygous α1-Antitrypsin Deficiency
III. A Provocative Test With Diethylstilbestrol and Effect of Oral Contraceptives
- Jack Lieberman, MD;
- Charles Mittman, MD;
- John R. Kent, MD
Abstract
Diethylstilbestrol caused serum trypsin-inhibitory capacity (STIC) values to rise into the low-normal range in most studied heterozygotes with α1-antitrypsin deficiency, but never above 1.20 units; in control subjects, the stimulated STIC values exceeded 1.30 units. Subjects with homozygous antitrypsin deficiency did not respond to diethylstilbestrol. Lack of response to 3 mg of diethylstilbestrol daily for two weeks in a patient with 1.20 units or less of antitrypsin activity indicates that the patient's antitrypsin level is already maximally stimulated by his disease, and confirms a dagnosis of heterozygous α1-antitrypsin deficiency. Women receiving oral contraceptive medication or other estrogenic hormones whose random antitrypsin assay shows a level of 1.20 units or less should be suspected of carrying the abnormal gene for antitrypsin deficiency.
Footnotes
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Read in part before the Western Society for Clinical Investigation, Carmel, Calif, Jan 30, 1970, and the American Thoracic Society, Cleveland, May 26, 1970.
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Reprint requests to 1500 E Duarte Rd, Duarte, Calif 91010 (Dr. Lieberman).
