Liao Feng, Zeng Jun-Ling, Pan Jian-Gang, Ma Jing, Zhang Zhi-Jian, Lin Zhi-Jun, Lin Li-Feng, Chen Yu-Sen, Ma Xiao-Tang
Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang 524001, Guangdong Province, China.
World J Clin Cases. 2022 Jan 14;10(2):618-624. doi: 10.12998/wjcc.v10.i2.618.
The hereditary antithrombin (AT) deficiency caused by SERPINC1 gene mutation is an autosomal dominant thrombotic disorder. An increasing number of studies have shown that mutations in the SERPINC1 rs2227589 polymorphic site are correlated with a risk of venous thromboembolism (VTE) at common sites, such as lower extremity deep venous thrombosis and pulmonary thromboembolism. Currently, there are no reports of cerebral venous sinus thrombosis (CVST), a VTE site with a low incidence rate and rs2227589 polymorphism.
Here, we report a Chinese CVST case with a mutation of the SERPINC1 rs2227589 polymorphic site, which did not cause significant AT deficiency. In a 50-year-old male patient presenting with multiple cerebral venous sinus thromboses no predisposing factors were detected, although a relative had a history of lower extremity deep venous thrombosis. We performed sequencing of the SERPINC1 gene for the patient and his daughter, which revealed the same heterozygous mutation at the rs2227589 polymorphic site: c.41+141G>A.
The results showed that more studies should be conducted to assess the correlation between rs2227589 polymorphism and CVST.
由SERPINC1基因突变引起的遗传性抗凝血酶（AT）缺乏症是一种常染色体显性遗传性血栓形成性疾病。越来越多的研究表明，SERPINC1基因rs2227589多态性位点的突变与常见部位静脉血栓栓塞（VTE）的风险相关，如下肢深静脉血栓形成和肺血栓栓塞。目前，尚无关于脑静脉窦血栓形成（CVST）这一发病率较低的VTE部位与rs2227589多态性的报道。
在此，我们报告1例中国CVST病例，其SERPINC1基因rs2227589多态性位点发生突变，但未导致明显的AT缺乏。在1例50岁男性患者中，尽管其亲属有下肢深静脉血栓形成病史，但未检测到其患有多处脑静脉窦血栓形成的诱发因素。我们对该患者及其女儿进行了SERPINC1基因测序，结果显示rs2227589多态性位点存在相同的杂合突变：c.41+141G>A。
结果表明，应开展更多研究以评估rs2227589多态性与CVST之间的相关性。
