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August 30, 1971

Screening for Heterozygous α1-Antitrypsin Deficiency: III. A Provocative Test With Diethylstilbestrol and Effect of Oral Contraceptives

Author Affiliations

From the Respiratory Disease Department, City of Hope National Medical Center, Duarte, the Long Beach Veterans Administration Hospital, and the Department of Medicine, UCLA School of Medicine, Los Angeles.

JAMA. 1971;217(9):1198-1206. doi:10.1001/jama.1971.03190090020006

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.