Hellfritzsch Maja, Grove Erik Lerkevang
Clinical Pharmacology, Department of Public Health, University of Southern Denmark, Odense, Denmark.
Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.
Am J Case Rep. 2015 Sep 29;16:667-9. doi: 10.12659/AJCR.894721.
The prothrombotic effect of combined oral contraceptives (COCs) is well-established, with a 3-6-fold increased risk of VTE compared to non-users. When initiation of COCs is considered, it is therefore of paramount importance to carefully evaluate all other potential risk factors for VTE. Based on a case of life-threatening COC-associated pulmonary embolism in a girl heterozygous for the prothrombin G20210A mutation and with a family history of thrombotic disease, we discuss the importance of assessing not just the genotype but also the phenotype when considering initiation of COCs in patients with thrombophilia.
A 14-year-old girl presented with acute onset of chest pain and dyspnea followed by syncope. She was hypoxic and hemodynamically compromised at admission. Computed tomography pulmonary angiography revealed a large central "saddle" pulmonary embolism causing nearly total occlusion of the right pulmonary artery, and several minor peripheral embolisms bilaterally. She was successfully treated with thrombolysis (alteplase) followed by aPTT-adjusted heparin infusion until adequate anticoagulation with warfarin was achieved. Two years earlier, the patient had been found heterozygote for the prothrombin G20210A mutation, and 9 months before admission she had initiated use of second-generation COCs.
Hereditary thrombophilia and a family history of early-onset venous thromboembolism (VTE) each pose an increased risk of VTE and should be considered as separate, irreversible risk factors. Other contraceptive methods should be used when treatment with COCs is expected to result in an unacceptable high risk of VTE.
复方口服避孕药（COCs）的促血栓形成作用已得到充分证实，与未使用者相比，静脉血栓栓塞（VTE）风险增加3至6倍。因此，在考虑开始使用COCs时，仔细评估所有其他潜在的VTE风险因素至关重要。基于一例患有凝血酶原G20210A突变杂合子且有血栓形成疾病家族史的女孩发生危及生命的COC相关性肺栓塞的病例，我们讨论了在考虑为易栓症患者开始使用COCs时不仅评估基因型而且评估表型的重要性。
一名14岁女孩出现急性胸痛和呼吸困难，随后晕厥。入院时她存在低氧血症且血流动力学不稳定。计算机断层扫描肺动脉造影显示一个巨大的中央“鞍状”肺栓塞，几乎完全阻塞右肺动脉，双侧还有几处较小的外周栓塞。她接受了溶栓治疗（阿替普酶），随后进行活化部分凝血活酶时间（aPTT）调整的肝素输注，直至通过华法林实现充分抗凝。两年前，该患者被发现为凝血酶原G20210A突变杂合子，入院前9个月开始使用第二代COCs。
遗传性易栓症和早发性静脉血栓栓塞（VTE）家族史均会增加VTE风险，应被视为独立的、不可逆转的风险因素。当预期使用COCs治疗会导致不可接受的高VTE风险时，应使用其他避孕方法。
