J Genet Med.  2019 Jun;16(1):23-26. 10.5734/JGM.2019.16.1.23.

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

Affiliations
  • 1Division of Biotechnology, Bio-Core Co. Ltd., Yongin, Korea. hansungh@bio-core.com
  • 2Department of Obstetrics and Gynecology, Women's I Hospital, Pohang, Korea.

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.

Keyword

Factor V Leiden; Mutation; Recurrent pregnancy loss; Thrombophilia; Hereditary
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