Ma Hongrui, Zhang Qihan, Gu Yaqin, Ji Xunming, Duan Jiangang
Departments of Neurology (HM, QZ, YG, JD), Neurosurgery (XJ), and Emergency (HM, JD), Xuanwu Hospital, Capital Medical University, Beijing, China.
Neurol Clin Pract. 2023 Apr;13(2):e200122. doi: 10.1212/CPJ.0000000000200122. Epub 2023 Mar 1.
Anticoagulation therapy for cerebral venous sinus thrombosis (CVST) with antithrombin (AT) deficiency due to mutation does not often yield the expected outcomes. Argatroban may be effective for thrombophilia caused by mutation. However, argatroban resistance deserves attention.
We report a case of a 19-year-old man who was admitted to the hospital with sudden headache, nausea, vomiting, and eye swelling for 3 days. Brain MRI on admission showed multifocal CVST.
mutation (exon1, c.40delA: [p.R14Gfs*17]) combined with hereditary AT deficiency (AT activity was 50% [reference range: 80%-120%]) was detected in this patient. A high dose of anticoagulation treatment with argatroban did not improve the activated partial thromboplastin time (APTT) level to the target range (1.5-3 times over the initial baseline level) for this case. We chose adjunctive anticoagulation (argatroban-combined low-molecular-weight heparin), and the APTT gradually reached the target level. At 3-month follow-up, no recurrence of headache or any systemic hemorrhage was found and the ultrasonography of the optic nerve sheath showed normal. Magnetic resonance black blood thrombosis imaging suggested thrombus absorption.
Argatroban resistance may be associated with thrombin receptor saturation and deserves attention. The use of adjunctive anticoagulants may be the optimum strategy during acute and subacute phases of CVST with AT deficiency due to mutation.
因突变导致抗凝血酶(AT)缺乏的脑静脉窦血栓形成(CVST)患者,抗凝治疗往往无法取得预期效果。阿加曲班可能对由突变引起的血栓形成倾向有效。然而,阿加曲班抵抗值得关注。
我们报告一例19岁男性患者,因突发头痛、恶心、呕吐及眼部肿胀3天入院。入院时脑部MRI显示多灶性CVST。
该患者检测到突变(外显子1,c.40delA:[p.R14Gfs*17])合并遗传性AT缺乏(AT活性为50%[参考范围:80%-120%])。高剂量阿加曲班抗凝治疗未能使该病例的活化部分凝血活酶时间(APTT)水平达到目标范围(初始基线水平的1.5-3倍)。我们选择辅助抗凝(阿加曲班联合低分子量肝素),APTT逐渐达到目标水平。随访3个月时,未发现头痛复发或任何全身性出血,视神经鞘超声检查显示正常。磁共振黑血血栓成像提示血栓吸收。
阿加曲班抵抗可能与凝血酶受体饱和有关,值得关注。在因突变导致AT缺乏的CVST急性和亚急性期,使用辅助抗凝剂可能是最佳策略。