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Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium.
N Engl J Med. 2000 Feb 10; 342(6):374-80.NEJM

Abstract

BACKGROUND

Venous thromboembolism is a leading cause of morbidity and mortality during pregnancy and the puerperium. However, the role of mutations in the prothrombin and factor V genes and other thrombophilic abnormalities as risk factors for thromboembolism in women during pregnancy and the pueperium is not known.

METHODS

In a study of 119 women with a history of venous thromboembolism during pregnancy and the puerperium and 233 age-matched normal women, we measured the activity of antithrombin, protein C, protein S, and lupus anticoagulant. We also performed genetic analyses to detect the G1691A mutation in the factor V gene (factor V Leiden), the G20210A mutation in the prothrombin gene, and the C677T mutation in the methylenetetrahydrofolate reductase gene. Blood samples were obtained at least three months post partum or after the cessation of lactation.

RESULTS

Among the women with a history of venous thromboembolism, the prevalence of factor V Leiden was 43.7 percent, as compared with 7.7 percent among the normal women (relative risk of venous thromboembolism, 9.3; 95 percent confidence interval, 5.1 to 16.9); that of the G20210A prothrombin-gene mutation, 16.9 percent as compared with 1.3 percent (relative risk, 15.2; 95 percent confidence interval, 4.2 to 52.6); and that of both factor V Leiden and the G20210A prothrombin-gene mutation 9.3 percent as compared with 0 (estimated odds ratio, 107). Assuming an overall risk of 1 in 1500 pregnancies, the risk of thrombosis among carriers of factor V Leiden was 0.2 percent, among carriers of the G20210A prothrombin-gene mutation, 0.5 percent, and among carriers of both defects, 4.6 percent, as calculated in a multivariate analysis.

CONCLUSIONS

The G20210A prothrombin-gene mutation and factor V Leiden individually are associated with an increased risk of venous thromboembolism during pregnancy and the puerperium, and the risk among women with both mutations is disproportionately higher than that among women with only one mutation.

Authors+Show Affiliations

Department of Hemostasis and Transfusion Medicine, Heinrich Heine University Medical Center, Düsseldorf, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10666427

Citation

Gerhardt, A, et al. "Prothrombin and Factor V Mutations in Women With a History of Thrombosis During Pregnancy and the Puerperium." The New England Journal of Medicine, vol. 342, no. 6, 2000, pp. 374-80.
Gerhardt A, Scharf RE, Beckmann MW, et al. Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. N Engl J Med. 2000;342(6):374-80.
Gerhardt, A., Scharf, R. E., Beckmann, M. W., Struve, S., Bender, H. G., Pillny, M., Sandmann, W., & Zotz, R. B. (2000). Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. The New England Journal of Medicine, 342(6), 374-80.
Gerhardt A, et al. Prothrombin and Factor V Mutations in Women With a History of Thrombosis During Pregnancy and the Puerperium. N Engl J Med. 2000 Feb 10;342(6):374-80. PubMed PMID: 10666427.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. AU - Gerhardt,A, AU - Scharf,R E, AU - Beckmann,M W, AU - Struve,S, AU - Bender,H G, AU - Pillny,M, AU - Sandmann,W, AU - Zotz,R B, PY - 2000/2/10/pubmed PY - 2000/2/19/medline PY - 2000/2/10/entrez SP - 374 EP - 80 JF - The New England journal of medicine JO - N Engl J Med VL - 342 IS - 6 N2 - BACKGROUND: Venous thromboembolism is a leading cause of morbidity and mortality during pregnancy and the puerperium. However, the role of mutations in the prothrombin and factor V genes and other thrombophilic abnormalities as risk factors for thromboembolism in women during pregnancy and the pueperium is not known. METHODS: In a study of 119 women with a history of venous thromboembolism during pregnancy and the puerperium and 233 age-matched normal women, we measured the activity of antithrombin, protein C, protein S, and lupus anticoagulant. We also performed genetic analyses to detect the G1691A mutation in the factor V gene (factor V Leiden), the G20210A mutation in the prothrombin gene, and the C677T mutation in the methylenetetrahydrofolate reductase gene. Blood samples were obtained at least three months post partum or after the cessation of lactation. RESULTS: Among the women with a history of venous thromboembolism, the prevalence of factor V Leiden was 43.7 percent, as compared with 7.7 percent among the normal women (relative risk of venous thromboembolism, 9.3; 95 percent confidence interval, 5.1 to 16.9); that of the G20210A prothrombin-gene mutation, 16.9 percent as compared with 1.3 percent (relative risk, 15.2; 95 percent confidence interval, 4.2 to 52.6); and that of both factor V Leiden and the G20210A prothrombin-gene mutation 9.3 percent as compared with 0 (estimated odds ratio, 107). Assuming an overall risk of 1 in 1500 pregnancies, the risk of thrombosis among carriers of factor V Leiden was 0.2 percent, among carriers of the G20210A prothrombin-gene mutation, 0.5 percent, and among carriers of both defects, 4.6 percent, as calculated in a multivariate analysis. CONCLUSIONS: The G20210A prothrombin-gene mutation and factor V Leiden individually are associated with an increased risk of venous thromboembolism during pregnancy and the puerperium, and the risk among women with both mutations is disproportionately higher than that among women with only one mutation. SN - 0028-4793 UR - https://www.unboundmedicine.com/medline/citation/10666427/Prothrombin_and_factor_V_mutations_in_women_with_a_history_of_thrombosis_during_pregnancy_and_the_puerperium_ L2 - https://www.nejm.org/doi/10.1056/NEJM200002103420602?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -