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Abstract：
OBJECTIVE: To investigate the risk factors and underlying causes of pregnancy-related cerebral venous thrombosis (PCVT).
METHODS: A retrospective cohort of 16 patients diagnosed with CVT during pregnancy and postpartum (within six weeks after delivery) in a comprehensive hospital in China between 2009 and 2022 were carefully reviewed, focusing on demographic, clinical, and etiological characteristics, especially underlying causes. We matched 16 PCVT patients with 64 pregnant and puerperal women without PCVT to explore risk factors and clinical susceptibility to PCVT.
RESULTS: PCVT occurred commonly during the first trimester (43.75%) and the puerperium (37.5%). The frequency of anemia, thrombocytosis and thrombocytopenia during pregnancy, dehydration, and pre-pregnancy anemia was significantly higher in women with PCVT than in those without PCVT (P < 0.05). Among the 16 patients, five were diagnosed with antiphospholipid syndrome and one was diagnosed with systemic lupus erythematosus. Three patients had distinct protein S deficiency and one had protein C deficiency. Whole Exome Sequencing (WES) was performed for five patients and revealed likely pathogenic mutations associated with CVT, including heterozygous PROC c.1218G > A (p. Met406Ile), heterozygous PROS1 c.301C > T (p. Arg101Cys), composite heterozygous mutation in the F8 gene (c.144-1259C > T; c.6724G > A (p. Val2242Met)) and homozygous MTHFR c.677C > T (p. Ala222Val).
CONCLUSIONS: The occurrence of anemia, thrombocytopenia and thrombocytosis during pregnancy, dehydration and pre-pregnancy anemia suggested a greater susceptibility to PCVT. For confirmed PCVT patients, autoimmune diseases, hereditary thrombophilia, and hematological disorders were common causes. Screening for potential etiologies should be paid more attention, as it has implications for treatment and long-term management.
METHODS: A retrospective cohort of 16 patients diagnosed with CVT during pregnancy and postpartum (within six weeks after delivery) in a comprehensive hospital in China between 2009 and 2022 were carefully reviewed, focusing on demographic, clinical, and etiological characteristics, especially underlying causes. We matched 16 PCVT patients with 64 pregnant and puerperal women without PCVT to explore risk factors and clinical susceptibility to PCVT.
RESULTS: PCVT occurred commonly during the first trimester (43.75%) and the puerperium (37.5%). The frequency of anemia, thrombocytosis and thrombocytopenia during pregnancy, dehydration, and pre-pregnancy anemia was significantly higher in women with PCVT than in those without PCVT (P < 0.05). Among the 16 patients, five were diagnosed with antiphospholipid syndrome and one was diagnosed with systemic lupus erythematosus. Three patients had distinct protein S deficiency and one had protein C deficiency. Whole Exome Sequencing (WES) was performed for five patients and revealed likely pathogenic mutations associated with CVT, including heterozygous PROC c.1218G > A (p. Met406Ile), heterozygous PROS1 c.301C > T (p. Arg101Cys), composite heterozygous mutation in the F8 gene (c.144-1259C > T; c.6724G > A (p. Val2242Met)) and homozygous MTHFR c.677C > T (p. Ala222Val).
CONCLUSIONS: The occurrence of anemia, thrombocytopenia and thrombocytosis during pregnancy, dehydration and pre-pregnancy anemia suggested a greater susceptibility to PCVT. For confirmed PCVT patients, autoimmune diseases, hereditary thrombophilia, and hematological disorders were common causes. Screening for potential etiologies should be paid more attention, as it has implications for treatment and long-term management.
摘要：
目的：探讨妊娠相关脑静脉血栓形成(PCVT)的危险因素及潜在原因。
方法：对2009年至2022年在中国综合性医院妊娠和产后（产后六周内）诊断为CVT的16例患者进行了回顾性研究。关注人口统计，临床,和病因学特征，尤其是潜在的原因。我们将16例PCVT患者与64例无PCVT的孕妇和产褥期妇女进行匹配，以探讨PCVT的危险因素和临床易感性。
结果：PCVT多见于孕早期（43.75%）和产褥期（37.5%）。贫血的频率，怀孕期间血小板增多症和血小板减少症，脱水,PCVT患者孕前贫血明显高于无PCVT患者(P<0.05)。在16名患者中，其中5人被诊断为抗磷脂综合征,1人被诊断为系统性红斑狼疮.3名患者有明显的蛋白S缺乏，1名患者有蛋白C缺乏。对5例患者进行全外显子组测序（WES），发现可能与CVT相关的致病突变，包括杂合PROCc.1218G>A（p。Met406Ile)，杂合PROS1c.301C>T（p。Arg101Cys)，F8基因中的复合杂合突变（c.144-1259C>T；c.6724G>A（p。Val2242Met））和纯合MTHFRc.677C>T（p。Ala222Val）。
结论：贫血的发生，怀孕期间血小板减少症和血小板增多症，脱水和孕前贫血提示PCVT的易感性更高.对于已确诊的PCVT患者，自身免疫性疾病，遗传性易栓症,血液病是常见原因。应更加重视潜在病因的筛查，因为它对治疗和长期管理有影响。
方法：对2009年至2022年在中国综合性医院妊娠和产后（产后六周内）诊断为CVT的16例患者进行了回顾性研究。关注人口统计，临床,和病因学特征，尤其是潜在的原因。我们将16例PCVT患者与64例无PCVT的孕妇和产褥期妇女进行匹配，以探讨PCVT的危险因素和临床易感性。
结果：PCVT多见于孕早期（43.75%）和产褥期（37.5%）。贫血的频率，怀孕期间血小板增多症和血小板减少症，脱水,PCVT患者孕前贫血明显高于无PCVT患者(P<0.05)。在16名患者中，其中5人被诊断为抗磷脂综合征,1人被诊断为系统性红斑狼疮.3名患者有明显的蛋白S缺乏，1名患者有蛋白C缺乏。对5例患者进行全外显子组测序（WES），发现可能与CVT相关的致病突变，包括杂合PROCc.1218G>A（p。Met406Ile)，杂合PROS1c.301C>T（p。Arg101Cys)，F8基因中的复合杂合突变（c.144-1259C>T；c.6724G>A（p。Val2242Met））和纯合MTHFRc.677C>T（p。Ala222Val）。
结论：贫血的发生，怀孕期间血小板减少症和血小板增多症，脱水和孕前贫血提示PCVT的易感性更高.对于已确诊的PCVT患者，自身免疫性疾病，遗传性易栓症,血液病是常见原因。应更加重视潜在病因的筛查，因为它对治疗和长期管理有影响。
