Abstract:

Objective To report one case with protein C deficiency (PCD) and protein S deficiency (PSD) associated cerebral venous thrombosis (CVT), and to explore diagnostic and therapeutic strategies. Methods and Results A 27-year-old male patient presented with positional headache, worsened in supine position and relieved upon standing. Imaging findings showed thrombosis in the right transverse sinus, sigmoid sinus, and confluence of sinus. Laboratory tests showed significantly reduced protein C and protein S activities (49% and 51%) and elevated cerebrospinal fluid (CSF) pressure (> 330 mm H₂O). Genetic test identified a frameshift mutation in the PROC gene [c.574_577del (p.Val192Serfs*5)] and missense mutation in the PROS1 gene [c. 1915T > G (p. Cys639Gly) and c. 301C > T (p. Arg101Cys)]. After receiving heparin followed by non - vitamin K oral anticoagulants (NOACs), alongside intracranial pressure reduction, neurotrophic therapy, and analgesia treatment, the patient's headache symptom resolved, and at 4-month follow-up reexamination showed CSF pressure normalized (135 mm H₂O), with protein C and protein S activities rising to 53% and 54.10% (still below normal ranges). No headache recurrence was observed. Conclusions PCD and PSD are critical etiological factors for CVT. NOACs effectively improve venous reflux and avoid warfarin - related coagulation dysfunction, representing a preferred therapeutic option. Screening for coagulation protein activity and genetic analysis in young patients is essential to guide precise anticoagulation management.

Key words: Venous thrombosis, Cerebral veins, Protein C deficiency, Protein S deficiency, Anticoagulants

摘要：

目的: 报道1例蛋白C和蛋白S缺陷症致脑静脉血栓形成病例，总结临床诊疗思路。方法与结果: 男性患者，27岁，以头痛发病，平卧位加重、站立位稍缓解。影像学检查提示右侧横窦、乙状窦、窦汇血栓形成；实验室检查蛋白C和蛋白S活性降低（49% 和51%），脑脊液压力> 330 mm H₂O；基因检测提示PROC基因移码突变[c.574_577del（p.Val192Serfs*5）]及PROS1基因错义突变[c.1915T > G（p. Cys639Gly）和c.301C > T（p.Arg101Cys）]。予以低分子量肝素序贯新型口服抗凝药抗凝治疗以及降低颅内压、营养神经和镇痛治疗后，头痛症状缓解。出院后4个月头痛无复发，复查脑脊液压力降至正常（135 mm H₂O），蛋白C和蛋白S活性升至53% 和54.10%（仍低于正常值范围）。结论: 蛋白C和（或）蛋白S缺乏是脑静脉血栓形成的重要病因，新型口服抗凝药可有效改善静脉回流障碍并避免华法林相关凝血机制紊乱，是优选治疗方案。临床应对青年患者行凝血蛋白活性检测及遗传学分析，以指导精准抗凝治疗。

关键词: 静脉血栓形成, 脑静脉, 蛋白质C缺乏, 蛋白质S缺乏, 抗凝药