摘要患者女,25岁,剖宫产后1 d突发心跳呼吸骤停,诊断为下肢深静脉血栓形成合并肺栓塞。经心肺复苏、阿替普酶溶栓,建立体外膜氧合(ECMO)体外循环和抗凝等治疗后,症状好转出院。住院期间完善肿瘤标志物无明显异常,抗核抗体谱、抗中性粒细胞胞质抗体、抗肾小球基底膜抗体均无明显异常,抗心磷脂 IgM 抗体为73.86 MPL,3个月后复查抗心磷脂IgM 抗体22.92 MPL,采用全外显子基因测序检出F5/NM_000130.4基因c.2032A>G(p.Lys678Glu)杂合错义突变。
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abstractsPulmonary embolism (PE) is one of the leading causes of maternal death. Various clinical and environmental risk factors can cause PE. Here, we reported an uncommon PE case with multiple etiological causes, including caesarean section, overweight, anti-cardiolipin antibody positive, and factor 5 gene mutation. The patient was a 25-year-old woman who developed cardiac asystole and apnea one day after cesarean delivery due to pulmonary embolism. After cardiopulmonary resuscitation and thrombolytic therapy, high doses of epinephrine were still needed to maintain blood pressure and heart rate, so we treated her with venoarterial extracorporeal membrane oxygenation (ECMO) to maintain systemic circulation. She progressively improved and was discharged on oral warfarin treatment. Comprehensive laboratory tests revealed a positive anticardiolipin antibody. Through whole exon gene sequencing, we identified a novel mutation (A2032?G) in the F5 gene. This mutation was predicted to result in the replacement of lysine with glutamate at position 678, close to one of the APC cleavage sites. P.Lys678Glu was found to be a detrimental mutation by SIFT software and suspected detrimental by Polyphen-2 software. Attention should be paid to the etiological screening of young patients with pulmonary embolism, which is helpful in guiding the anticoagulant scheme and anticoagulant duration, and is of great significance in preventing thrombosis recurrence and complications.
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