Huang Mei-Ying, Su Ning, Liu Ya-Ping, Zhu Yi-Cheng
Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Center for Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.
BMC Neurol. 2025 Aug 13;25(1):335. doi: 10.1186/s12883-025-04355-6.
Protein S deficiency (PSD) is an inherited thrombophilia caused by functional defects in protein S encoded by the PROS1 gene. Mainly manifesting as venous thromboembolism, PSD is not considered as a definitive cause of arterial thrombosis. However, there are several cases reporting ischemic stroke in patients with PSD, and anticoagulants were given as treatment.
We present a patient with four ischemic strokes during the past 11 years, which recurred despite secondary prevention. Brain magnetic resonance imaging showed ischemic lesions in bilateral basal ganglia and paraventricular regions, as well as the left pons. After thrombophilia screening, the patient was diagnosed with hereditary PSD with a heterozygous PROS1 c.1961 C > A (p.A654D) mutation. He was treated effectively with clopidogrel and rivaroxaban.
Hereditary PSD should be suspected in patients with recurrent ischemic strokes and a family history of thrombotic events. Anticoagulation treatment is warranted if evidence strongly suggests a contribution of PSD to ischemic strokes.
蛋白S缺乏症（PSD）是一种由PROS1基因编码的蛋白S功能缺陷引起的遗传性血栓形成倾向。PSD主要表现为静脉血栓栓塞，不被认为是动脉血栓形成的明确原因。然而，有几例报告称PSD患者发生缺血性中风，并给予抗凝剂治疗。
我们报告一名患者在过去11年中发生了4次缺血性中风，尽管进行了二级预防仍复发。脑部磁共振成像显示双侧基底节和脑室旁区域以及左侧脑桥有缺血性病变。经过血栓形成倾向筛查，该患者被诊断为遗传性PSD，携带杂合性PROS1 c.1961 C＞A（p.A654D）突变。他接受氯吡格雷和利伐沙班治疗有效。
对于复发性缺血性中风且有血栓形成事件家族史的患者，应怀疑遗传性PSD。如果有强有力的证据表明PSD促成缺血性中风，则有必要进行抗凝治疗。
