Rayamajhi Sushil, Sayonara Lopez Capa Gabriela, Carolina Flores Reyes Ligia, Sunkara Vyshnavidevi, Marin Padilla Tania Beatriz, Farrukh Ameer M, Harrison Anil
Internal Medicine, University of Central Florida/Hospital Corporation of America, Florida West Hospital, Pensacola, USA.
Medicine, Universidad Católica de Cuenca, Azuay, ECU.
Cureus. 2024 Jun 15;16(6):e62451. doi: 10.7759/cureus.62451. eCollection 2024 Jun.
Factor V Leiden (FVL) is the major genetic risk factor to predispose venous thromboembolism (VTE). We present a rare case of a 34-year-old Caucasian female heterozygous for this mutation and taking oral contraceptive pills (OCPs) for less than four months, who presented to the emergency department with acute onset of dyspnea and was diagnosed to have an isolated massive bilateral pulmonary embolism (PE). The patient was managed for six days in the hospital and was discharged on oral anticoagulants. The risk for VTE in patients with factor V Leiden and on oral contraceptive pills increases by 30-fold in heterozygous women and 100-fold in homozygous women. The risk of VTE in factor V Leiden seems to outweigh the benefit of contraception with oral contraceptive pills. This case suggests that thrombophilia screening should be considered only in patients with a positive first-degree family history of VTE, where necessary, to prevent any future thrombotic morbidity and mortality.
因子V莱顿突变（FVL）是导致静脉血栓栓塞症（VTE）的主要遗传风险因素。我们报告了一例罕见病例，一名34岁的高加索女性，为该突变的杂合子，服用口服避孕药（OCPs）不到四个月，因急性呼吸困难就诊于急诊科，被诊断为孤立性大面积双侧肺栓塞（PE）。患者在医院接受了六天的治疗，出院时服用口服抗凝剂。携带因子V莱顿突变且服用口服避孕药的患者发生VTE的风险，杂合子女性增加30倍，纯合子女性增加100倍。因子V莱顿突变患者发生VTE的风险似乎超过了口服避孕药避孕的益处。该病例表明，仅在有VTE一级家族史阳性的患者中，必要时应考虑进行血栓形成倾向筛查，以预防未来任何血栓性发病和死亡。
