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August 30, 1971, Vol 217, No. 9 >
ARTICLE | August 30, 1971

Screening for Heterozygous α1-Antitrypsin Deficiency: Title and subTitle BreakIII. A Provocative Test With Diethylstilbestrol and Effect of Oral Contraceptives FREE

Jack Lieberman, MD; Charles Mittman, MD; John R. Kent, MD
[+] Author Affiliations

Read in part before the Western Society for Clinical Investigation, Carmel, Calif, Jan 30, 1970, and the American Thoracic Society, Cleveland, May 26, 1970.

Reprint requests to 1500 E Duarte Rd, Duarte, Calif 91010 (Dr. Lieberman).


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

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.

REFERENCES

1 +
Lieberman J:  Heterozygous and homozygous alpha1-antitrypsin deficiency in patients with pulmonary emphysema . New Eng J Med 281:279-284, 1969;.
2 +
Kueppers F, Fallat R, Larson RK:  Obstructive lung disease and α1-antitrypsin deficiency gene heterozygosity . Science 165:899-900, 1969;.
3 +
Lieberman J, Mittman C, Schneider AS:  Screening for homozygous and heterozygous α1-antitrypsin deficiency: Protein electrophoresis on cellulose acetate membranes . JAMA 210:2055-2060, 1969;.
4 +
Ericksson S:  Studies in alpha1-antitrypsin deficiency . Acta Med Scand 177 ( (suppl 432) ): 1-85, 1955;.
5 +
Mittman C, Lieberman J, Miranda A:  Effect of smoking on lung function in alpha1-antitrypsin heterozygotes . Clin Res 17:553, 1969;.
6 +
Fallat R, Powell M, Kueppers F, et al:  Chronic obstructive pulmonary disease with intermediate alpha1-antitrypsin deficiency . Read before the 13th Annual Aspen Conference on Research in Emphysema, Aspen, Colo, 1970 .
7 +
Lieberman J, Mittman C:  Screening for heterozygous alpha1-antitrypsin deficiency: II. Effect of other serum protein abnormalities . Ann Intern Med 73:9-13, 1970;.
8 +
Jacobsson K:  Studies on the inhibition of trypsin by human blood serum . Scand J Clin Lab Invest 7 ( (suppl 14) ):66-86, 1955;.
9 +
Homer GM, Katchman BJ, Zipf RE:  A spectrophotometric method for measuring serum trypsin inhibitor capacity . Clin Chem 9:428-437, 1963;.
10 +
Matsuda T:  Studies on trypsin inhibitor and antiplasmin in human serum: II. On various disease except arteriosclerosis . Acta Haemat Jap 26:590-597, 1963;.
11 +
Cliffton EE:  An evaluation of the antiproteolytic reaction of serum as a test for malignant neoplasia . J Nat Cancer lnst 11:33, 1950;.
12 +
Peacock AC, Sheehy JJ:  Studies of various tests for malignant neoplastic diseases: VII. Serum inhibitors of chymotrypsin and trypsin . J Nat Cancer Inst 12:861, 1952;.
13 +
Kueppers F:  Genetically determined differences in the response of alpha1-antitrypsin levels in human serum to typhoid vaccine . Humangenetik 6:207-214, 1968;.
14 +
Faarvang HG, Lauritsen OS:  Increase of trypsin inhibitor in serum during pregnancy . Nature 199:290-291, 1963;.
15 +
Ganrot PO and Bjerre B:  Alpha1-antitrypsin and alpha2-macroglobulin concentration in serum during pregnancy . Acta Obstet Gynec Scand 46:126-137, 1967;.
16 +
Sharp HL, Bridges RA, Krivit W, and Freier EF:  Cirrhosis associated with alpha1-antitrypsin deficiency: A previously unrecognized inherited disorder . J Lab Clin Med 73:934-939, 1969;.
17 +
Lieberman J, Kent JR:  Effect of diethylstilbestrol upon alpha1-antitrypsin activity . Clin Res 18:191, 1970;.
18 +
 Cellular probing for genetic information, editorial . JAMA 213:289-290, 1970;.
19 +
Hirschhorn K, Nadler HL, Waithe WI, et al:  Pompe's disease: Detection of heterozygotes by lymphocyte stimulation . Science 166:1632-1633, 1969;.
20 +
Nadler HI, Egan TJ:  Deficiency of lysosomal acid phosphatase: A new familial metabolic disorder . New Eng J Med 282:302-307, 1970;.
21 +
Dickinson P, Zinneman HH, Swaim WR, et al:  Effects of testosterone treatment on plasma proteins and amino acids in men . J Clin Endocr 29:837-841, 1969;.
22 +
Horne CHW, Howie PW, Weir RJ, et al:  Effect of combined estrogenprogestogen oral contraceptives on serum levels of α2-macroglobulin, transferrin, albumin, and IgG . Lancet 1:49-53, 1970;.
23 +
Mendenhall HW:  Effect of oral contraceptives on serum protein concentrations . Amer J Obstet Gynec 106:750-753, 1970;.
24 +
Bacon, GE, Lowrey GH, Knoller M:  Comparison of arginine infusion and diethylstilbestrol as a means of provoking growth hormone secretion . J Pediat 75:385-390, 1969;.
25 +
Crockson RA, Payne CH, Ratcliff AP, et al:  Time sequence of acute phase reactive proteins following surgical trauma . Clin Chim Acta 14:435-441, 1966;.
26 +
Fagerhol MK:  Quantitative studies on the inherited variants of serum alpha1-antitrypsin . Scand J Clin Lab Invest 23: 97-103, 1969;.
27 +
Kueppers F:  Identification of the heterozygous state for the α1-antitrypsin deficiency gene in man . Biochem Genet 3: 283-288, 1969;.

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1 +
Lieberman J:  Heterozygous and homozygous alpha1-antitrypsin deficiency in patients with pulmonary emphysema . New Eng J Med 281:279-284, 1969;.
2 +
Kueppers F, Fallat R, Larson RK:  Obstructive lung disease and α1-antitrypsin deficiency gene heterozygosity . Science 165:899-900, 1969;.
3 +
Lieberman J, Mittman C, Schneider AS:  Screening for homozygous and heterozygous α1-antitrypsin deficiency: Protein electrophoresis on cellulose acetate membranes . JAMA 210:2055-2060, 1969;.
4 +
Ericksson S:  Studies in alpha1-antitrypsin deficiency . Acta Med Scand 177 ( (suppl 432) ): 1-85, 1955;.
5 +
Mittman C, Lieberman J, Miranda A:  Effect of smoking on lung function in alpha1-antitrypsin heterozygotes . Clin Res 17:553, 1969;.
6 +
Fallat R, Powell M, Kueppers F, et al:  Chronic obstructive pulmonary disease with intermediate alpha1-antitrypsin deficiency . Read before the 13th Annual Aspen Conference on Research in Emphysema, Aspen, Colo, 1970 .
7 +
Lieberman J, Mittman C:  Screening for heterozygous alpha1-antitrypsin deficiency: II. Effect of other serum protein abnormalities . Ann Intern Med 73:9-13, 1970;.
8 +
Jacobsson K:  Studies on the inhibition of trypsin by human blood serum . Scand J Clin Lab Invest 7 ( (suppl 14) ):66-86, 1955;.
9 +
Homer GM, Katchman BJ, Zipf RE:  A spectrophotometric method for measuring serum trypsin inhibitor capacity . Clin Chem 9:428-437, 1963;.
10 +
Matsuda T:  Studies on trypsin inhibitor and antiplasmin in human serum: II. On various disease except arteriosclerosis . Acta Haemat Jap 26:590-597, 1963;.
11 +
Cliffton EE:  An evaluation of the antiproteolytic reaction of serum as a test for malignant neoplasia . J Nat Cancer lnst 11:33, 1950;.
12 +
Peacock AC, Sheehy JJ:  Studies of various tests for malignant neoplastic diseases: VII. Serum inhibitors of chymotrypsin and trypsin . J Nat Cancer Inst 12:861, 1952;.
13 +
Kueppers F:  Genetically determined differences in the response of alpha1-antitrypsin levels in human serum to typhoid vaccine . Humangenetik 6:207-214, 1968;.
14 +
Faarvang HG, Lauritsen OS:  Increase of trypsin inhibitor in serum during pregnancy . Nature 199:290-291, 1963;.
15 +
Ganrot PO and Bjerre B:  Alpha1-antitrypsin and alpha2-macroglobulin concentration in serum during pregnancy . Acta Obstet Gynec Scand 46:126-137, 1967;.
16 +
Sharp HL, Bridges RA, Krivit W, and Freier EF:  Cirrhosis associated with alpha1-antitrypsin deficiency: A previously unrecognized inherited disorder . J Lab Clin Med 73:934-939, 1969;.
17 +
Lieberman J, Kent JR:  Effect of diethylstilbestrol upon alpha1-antitrypsin activity . Clin Res 18:191, 1970;.
18 +
 Cellular probing for genetic information, editorial . JAMA 213:289-290, 1970;.
19 +
Hirschhorn K, Nadler HL, Waithe WI, et al:  Pompe's disease: Detection of heterozygotes by lymphocyte stimulation . Science 166:1632-1633, 1969;.
20 +
Nadler HI, Egan TJ:  Deficiency of lysosomal acid phosphatase: A new familial metabolic disorder . New Eng J Med 282:302-307, 1970;.
21 +
Dickinson P, Zinneman HH, Swaim WR, et al:  Effects of testosterone treatment on plasma proteins and amino acids in men . J Clin Endocr 29:837-841, 1969;.
22 +
Horne CHW, Howie PW, Weir RJ, et al:  Effect of combined estrogenprogestogen oral contraceptives on serum levels of α2-macroglobulin, transferrin, albumin, and IgG . Lancet 1:49-53, 1970;.
23 +
Mendenhall HW:  Effect of oral contraceptives on serum protein concentrations . Amer J Obstet Gynec 106:750-753, 1970;.
24 +
Bacon, GE, Lowrey GH, Knoller M:  Comparison of arginine infusion and diethylstilbestrol as a means of provoking growth hormone secretion . J Pediat 75:385-390, 1969;.
25 +
Crockson RA, Payne CH, Ratcliff AP, et al:  Time sequence of acute phase reactive proteins following surgical trauma . Clin Chim Acta 14:435-441, 1966;.
26 +
Fagerhol MK:  Quantitative studies on the inherited variants of serum alpha1-antitrypsin . Scand J Clin Lab Invest 23: 97-103, 1969;.
27 +
Kueppers F:  Identification of the heterozygous state for the α1-antitrypsin deficiency gene in man . Biochem Genet 3: 283-288, 1969;.

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