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First Korean case of factor V Leiden mutation in pregnant woman with a history of recurrent pregnancy loss

  • Received : 2019.03.13
  • Accepted : 2019.05.11
  • Published : 2019.06.30

Abstract

Thrombophilia refers to inherited or acquired hemostatic disorders that result in a predisposition to blood clot formation. When combined with the hypercoagulable state that is characteristic of pregnancy, there is an increased risk of severe and recurrent pregnancy complications. Activated protein C resistance caused by factor V Leiden (FVL) mutation is known to be the most common cause of inherited thrombophilia in Caucasian population. FVL mutation has been related to pregnancy complications associated with hypercoagulation, e.g. miscarriage, intrauterine fetal demise, placental abruption, and intrauterine growth retardation. Although the FVL mutation is easily detected using molecular DNA techniques, patients who are heterozygous for this disorder often remain asymptomatic until they develop a concurrent prothrombotic condition. Because there are potentially serious effects of FVL mutation for pregnancy, and because effective treatment strategies exist, early detection and treatment of this condition might be considered.

Keywords

References

  1. Jaslow CR, Carney JL, Kutteh WH. Diagnostic factors identified in 1020 women with two versus three or more recurrent pregnancy losses. Fertil Steril 2010;93:1234-43. https://doi.org/10.1016/j.fertnstert.2009.01.166
  2. Rai R, Regan L. Recurrent miscarriage. Lancet 2006;368:601-11. https://doi.org/10.1016/S0140-6736(06)69204-0
  3. Brenner B. Inherited thrombophilia and pregnancy loss. Thromb Haemost 1999;82:634-40. https://doi.org/10.1055/s-0037-1615890
  4. Younis JS, Ohel G, Brenner B, Ben-Ami M. Familial thrombophilia--the scientific rationale for thrombophylaxis in recurrent pregnancy loss? Hum Reprod 1997;12:1389-90. https://doi.org/10.1093/humrep/12.7.1389
  5. Dahlback B. Inherited resistance to activated protein C, a major cause of venous thrombosis, is due to a mutation in the factor V gene. Haemostasis 1994;24:139-51.
  6. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995;346:1133-4. https://doi.org/10.1016/S0140-6736(95)91803-5
  7. De Stefano V, Chiusolo P, Paciaroni K, Leone G. Epidemiology of factor V Leiden: clinical implications. Semin Thromb Hemost 1998;24:367-79. https://doi.org/10.1055/s-2007-996025
  8. Kim TW, Kim WK, Lee JH, Kim SB, Kim SW, Suh C, et al. Low prevalence of activated protein C resistance and coagulation factor V Arg506 to Gln mutation among Korean patients with deep vein thrombosis. J Korean Med Sci 1998;13:587-90. https://doi.org/10.3346/jkms.1998.13.6.587
  9. Chang JD, Hur M, Lee SS, Yoo JH, Lee KM. Genetic background of nontraumatic osteonecrosis of the femoral head in the Korean population. Clin Orthop Relat Res 2008;466:1041-6. https://doi.org/10.1007/s11999-008-0147-1
  10. Kim S, Song I, Kim HK, Huh S. Thrombophilia in Korean patients with arterial or venous thromboembolisms. Ann Surg Treat Res 2016;90:340-5. https://doi.org/10.4174/astr.2016.90.6.340
  11. Lee GS, Park JC, Rhee JH, Kim JI. Etiologic characteristics and index pregnancy outcomes of recurrent pregnancy losses in Korean women. Obstet Gynecol Sci 2016;59:379-87. https://doi.org/10.5468/ogs.2016.59.5.379
  12. Sergi C, Al Jishi T, Walker M. Factor V Leiden mutation in women with early recurrent pregnancy loss: a meta-analysis and systematic review of the causal association. Arch Gynecol Obstet 2015;291:671-9. https://doi.org/10.1007/s00404-014-3443-x
  13. Laurini R, Laurin J, Marsal K. Placental histology and fetal blood flow in intrauterine growth retardation. Acta Obstet Gynecol Scand 1994;73:529-34. https://doi.org/10.3109/00016349409006268
  14. Bloomenthal D, von Dadelszen P, Liston R, Magee L, Tsang P. The effect of factor V Leiden carriage on maternal and fetal health. CMAJ 2002;167:48-54.
  15. Dizon-Townson DS, Nelson LM, Jang H, Varner MW, Ward K. The incidence of the factor V Leiden mutation in an obstetric population and its relationship to deep vein thrombosis. Am J Obstet Gynecol 1997;176:883-6. https://doi.org/10.1016/S0002-9378(97)70615-X
  16. Gohil R, Peck G, Sharma P. The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls. Thromb Haemost 2009;102:360-70. https://doi.org/10.1160/TH09-01-0013
  17. American College of Obstetricians and Gynecologists' Committee on Practice Bulletins-Obstetrics. ACOG practice bulletin No. 196 summary: thromboembolism in pregnancy. Obstet Gynecol 2018;132:243-8. https://doi.org/10.1097/AOG.0000000000002707