Li Lei, Wu Xi, Wu Wenman, Ding Qiulan, Wang Xuefeng
Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Thromb J. 2023 May 4;21(1):52. doi: 10.1186/s12959-023-00494-3.
Factor VII deficiency is a rare bleeding disorder caused by a deficiency of clotting factor VII. However, there have been some case reports of venous thrombosis in patients with factor VII deficiency, especially underlying the prothrombotic risk factors exposure. Patients with factor VII deficiency require special considerations before undergoing surgery to minimize the risk of bleeding or thrombogenesis.
Here, we described a patient with early-stage thymoma and severe factor VII deficiency who experienced an unprovoked thrombotic episode before thymectomy and a fatal thrombotic event after surgery. By adopting gene screening, a reported homozygous F7 mutation (p.His408Gln) and a novel heterozygous PROS1 mutation (p.Pro147Ala) were identified. The former resulted in severe factor VII deficiency but did not protect against thrombosis, and the latter was correlated with normal expression and cofactor activities of protein S through the thrombin generation test. The perioperative infusion of recombinant factor VII concentrate and the absence of antithrombotic prophylaxis may collectively contribute to her fatal thrombotic event after surgery.
For the patients with severe factor VII deficiency undergoing surgery, uniform replacement therapy may not be recommended, and antithrombotic prophylaxis should be used in the case with thrombotic history to minimize the risk of bleeding and thrombogenesis.
凝血因子 VII 缺乏症是一种由凝血因子 VII 缺乏引起的罕见出血性疾病。然而，已有一些关于凝血因子 VII 缺乏症患者发生静脉血栓形成的病例报告，尤其是在存在血栓形成风险因素的情况下。凝血因子 VII 缺乏症患者在接受手术前需要特殊考虑，以尽量降低出血或血栓形成的风险。
在此，我们描述了一名患有早期胸腺瘤和严重凝血因子 VII 缺乏症的患者，该患者在胸腺切除术前发生了不明原因的血栓形成事件，并在术后发生了致命的血栓形成事件。通过基因筛查，鉴定出一个已报道的纯合 F7 突变（p.His408Gln）和一个新的杂合 PROS1 突变（p.Pro147Ala）。前者导致严重的凝血因子 VII 缺乏，但不能预防血栓形成，而后者通过凝血酶生成试验与蛋白 S 的正常表达和辅因子活性相关。围手术期输注重组凝血因子 VII 浓缩物且未进行抗血栓预防可能共同导致了她术后致命的血栓形成事件。
对于患有严重凝血因子 VII 缺乏症的手术患者，可能不建议采用统一的替代疗法，对于有血栓形成病史的患者应使用抗血栓预防措施，以尽量降低出血和血栓形成的风险。
