Constant Dit Beaufils P, De Gaalon S, Espitia O, Ploton G, Mercier S, Liberge R, Connault J
Clinique neurologique, CHU de Nantes, Boulevard Jacques Monod, 44093 Nantes cedex 1, France.
Clinique neurologique, CHU de Nantes, Boulevard Jacques Monod, 44093 Nantes cedex 1, France.
Rev Med Interne. 2020 Sep;41(9):628-631. doi: 10.1016/j.revmed.2020.03.013. Epub 2020 Jun 19.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by the triad of nose bleeding, telangiectasia and familial heredity.
We report the case of a patient who had idiopathic venous cerebral thrombosis complicated by a cerebral infarction treated with warfarin. In the context of a psoas hematoma by warfarine overdose and immobilization, the patient had deep vein thrombosis of the left lower limb with pulmonary embolism revealing a pulmonary arteriovenous malformation. After a reexamination, the patient clinical phenotype of HHT was confirmed genetically. The patient was treated with rivaroxaban allowing clinical improvement and partial recanalization of all thrombosis after six months. Thrombotic overisk has already been studied in HHT patients but the use of anticoagulants is at higher risk in these patients. However this patient experienced no adverse event with rivaroxaban.
This is the first case described of cerebral venous thrombosis treated with rivaroxaban revealing an HHT.
遗传性出血性毛细血管扩张症(HHT)是一种常染色体显性疾病,其特征为鼻出血、毛细血管扩张和家族遗传三联征。
我们报告了一例特发性静脉脑梗死合并脑梗死的患者,该患者接受了华法林治疗。在因华法林过量和制动导致腰大肌血肿的情况下,患者出现左下肢深静脉血栓形成并伴有肺栓塞,这揭示了一种肺动静脉畸形。经过复查,患者HHT的临床表型通过基因检测得以确诊。患者接受了利伐沙班治疗,六个月后临床症状改善,所有血栓均部分再通。HHT患者的血栓形成风险已经得到研究,但这些患者使用抗凝剂的风险更高。然而,该患者使用利伐沙班未出现不良事件。
这是首例使用利伐沙班治疗脑静脉血栓形成并揭示HHT的病例。