Abstract：
BACKGROUND: Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare disorder caused by an inherited genetic deficiency of ADAMTS13 and affects less than one per million individuals. Patients who are diagnosed with TTP during pregnancy are at increased risk of maternal and fetal complications including fetal demise. We present a case of a 32-year-old G3P0 (gravida 3, para 0) who presented at 20 weeks gestation with a new diagnosis of congenital TTP (cTTP) and fetal demise.
METHODS: We describe the pathophysiology of pregnancy complications in a patient with cTTP using platelet procoagulant membrane dynamics analysis and quantitative proteomic studies, compared to four pregnant patients with gestational hypertension, four pregnant patients with preeclampsia, and four healthy pregnant controls.
RESULTS: The cTTP patient had increased P-selectin, tissue factor expression, annexin-V binding on platelets and neutrophils, and localized thrombin generation, suggestive of hypercoagulability. Among 15 proteins that were upregulated, S100A8 and S100A9 were distinctly overexpressed.
CONCLUSIONS: There is platelet-neutrophil activation and interaction, platelet hypercoagulability, and proinflammation in our case of cTTP with fetal demise.
METHODS: We describe the pathophysiology of pregnancy complications in a patient with cTTP using platelet procoagulant membrane dynamics analysis and quantitative proteomic studies, compared to four pregnant patients with gestational hypertension, four pregnant patients with preeclampsia, and four healthy pregnant controls.
RESULTS: The cTTP patient had increased P-selectin, tissue factor expression, annexin-V binding on platelets and neutrophils, and localized thrombin generation, suggestive of hypercoagulability. Among 15 proteins that were upregulated, S100A8 and S100A9 were distinctly overexpressed.
CONCLUSIONS: There is platelet-neutrophil activation and interaction, platelet hypercoagulability, and proinflammation in our case of cTTP with fetal demise.
摘要：
背景：先天性血栓性血小板减少性紫癜（cTTP）是一种由ADAMTS13遗传性遗传缺陷引起的罕见疾病，影响不到每百万个体。在怀孕期间被诊断为TTP的患者具有增加的母体和胎儿并发症(包括胎儿死亡)的风险。我们介绍了一例32岁的G3P0（gravida3，第0段），该病例在妊娠20周时出现先天性TTP（cTTP）和胎儿死亡的新诊断。
方法：我们使用血小板促凝膜动力学分析和定量蛋白质组学研究描述了cTTP患者妊娠并发症的病理生理学，与四名妊娠高血压患者相比，四名先兆子痫孕妇,和四个健康的孕妇对照。
结果：cTTP患者P-选择素升高，组织因子表达，膜联蛋白V在血小板和中性粒细胞上的结合，和局部的凝血酶生成，提示高凝。在15种上调的蛋白质中，S100A8和S100A9明显过表达。
结论：存在血小板-中性粒细胞活化和相互作用，血小板高凝，在我们的cTTP伴胎儿死亡的病例中促炎症。
方法：我们使用血小板促凝膜动力学分析和定量蛋白质组学研究描述了cTTP患者妊娠并发症的病理生理学，与四名妊娠高血压患者相比，四名先兆子痫孕妇,和四个健康的孕妇对照。
结果：cTTP患者P-选择素升高，组织因子表达，膜联蛋白V在血小板和中性粒细胞上的结合，和局部的凝血酶生成，提示高凝。在15种上调的蛋白质中，S100A8和S100A9明显过表达。
结论：存在血小板-中性粒细胞活化和相互作用，血小板高凝，在我们的cTTP伴胎儿死亡的病例中促炎症。
