The factor V Leiden mutation may predispose women to severe preeclampsia

• Published in: American journal of obstetrics and gynecology 1996-10, Vol.175 (4), p.902-905
• Main Authors: Dizon-Townson, Donna S., Nelson, Lesa M., Easton, Katrina, Ward, Kenneth
• Format: Article
• Language: English
• Subjects: Adult; Biological and medical sciences; Diseases of mother, fetus and pregnancy; endothelial cell dysfunction; Factor V - genetics; factor V Leiden mutation; Female; Gene Frequency; Genetic Predisposition to Disease; Gynecology. Andrology. Obstetrics; Heterozygote; Humans; Medical sciences; Mutation; Parity; Pre-Eclampsia - genetics; Preeclampsia; Pregnancy; Pregnancy. Fetus. Placenta; Reference Values; thrombosis
• ISSN: 0002-9378; 1097-6868
• DOI: 10.1016/S0002-9378(96)80022-6

OBJECTIVE: A recent study showed that resistance to activated protein C may underlie some cases of severe preeclampsia. A common missense mutation in the factor V gene, the Leiden mutation, is the most frequent genetic cause of resistance to activated protein C. Our objective was to determine whether this mutation is more prevalent in patients with severe preeclampsia than in normotensive controls. STUDY DESIGN: Deoxyribonucleic acid was extracted from whole blood of 158 gravid women meeting criteria of The American College of Obstetricians and Gynecologists for severe preeclampsia and 403 normotensive gravid women. The polymerase chain reaction was used to amplify exon 10 of the factor V gene, followed by allele-specific restriction with Mnl 1 for mutation detection. Results were analyzed with a χ2 contingency table. RESULTS: No patients were homozygous for the Leiden mutation. Fourteen of 158 women with severe preeclampsia (8.9%) were heterozygous for the Leiden mutation compared with 17 of 403 normotensive gravid controls (4.2%). The difference in frequency between women with severe preeclampsia and normotensive controls was statistically significant, χ2 4.686, p = 0.03. CONCLUSIONS: Our data suggest that carriers of the factor V Leiden mutation are at increased risk for severe preeclampsia. Deoxyribonucleic acid analysis for the factor V Leiden mutation could serve as one component of a genetic screening profile for preeclampsia and other adverse pregnancy outcomes. Women who carry this mutation are at increased risk for deep venous thrombosis. Carriers of this common thrombophilic mutation may be identified so that adequate counseling regarding future contraceptive usage and effective thromboembolic prophylaxis during pregnancy and surgical procedures may be offered. (Am J Obstet Gynecol 1996;175:902-5.)