拜瑞妥
蛋白质S缺乏症
血栓性
医学
无义突变
静脉血栓栓塞
蛋白质S
蛋白质C
儿科
内科学
突变
血栓形成
错义突变
华法林
基因
遗传学
生物
心房颤动
作者
Jianyao Lou,Yin Li,Xueying Ke,Liang Zhang,Fangfang Xu,Zhenjie Liu
标识
DOI:10.1097/mbc.0000000000000929
摘要
Hereditary protein S deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE) and usually results from mutations of PROS1 . Historically heparin and warfarin have been applied as recommended treatment of VTE. Recent researches showed that rivaroxaban provided more consistent and predictable anticoagulation than warfarin. However, it is unknown whether rivaroxaban is effective for the treatment of VTE in patients with thrombophilia, including protein S deficiency, due to lack of evidence. Here, we report two cases of recurrent VTE in two patients with hereditary protein S deficiency, owing to the same nonsense mutation in PROS1 , which were successfully treated by rivaroxaban monotherapy.
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