Skeith Leslie, Hurd Kelle, Chaturvedi Shruti, Chow Lorraine, Nicholas Joshua, Lee Adrienne, Young Daniel, Goodyear Dawn, Soucie Jennifer, Girard Louis, Dufour Antoine, Agbani Ejaife O
Department of Family Medicine, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
J Clin Med. 2022 Nov 30;11(23):7115. doi: 10.3390/jcm11237115.
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.
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.
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.
There is platelet-neutrophil activation and interaction, platelet hypercoagulability, and proinflammation in our case of cTTP with fetal demise.
先天性血栓性血小板减少性紫癜（cTTP）是一种由遗传性ADAMTS13基因缺陷引起的罕见疾病，每百万人口中发病者少于1人。孕期被诊断为TTP的患者发生母婴并发症的风险增加，包括胎儿死亡。我们报告一例32岁、孕3产0的患者，在妊娠20周时被诊断为先天性TTP（cTTP）并出现胎儿死亡。
与4例妊娠期高血压孕妇、4例先兆子痫孕妇及4例健康孕妇对照相比，我们通过血小板促凝膜动力学分析和定量蛋白质组学研究，描述了1例cTTP患者妊娠并发症的病理生理学情况。
该cTTP患者的P-选择素、组织因子表达、血小板和中性粒细胞上膜联蛋白-V结合以及局部凝血酶生成增加，提示存在高凝状态。在15种上调的蛋白质中，S100A8和S100A9明显过度表达。
在我们这例伴有胎儿死亡的cTTP患者中，存在血小板-中性粒细胞激活与相互作用、血小板高凝状态及炎症反应。
