A case of venous thromboembolism caused by protein C deficiency due to a novel gene mutation
A case of venous thromboembolism caused by protein C deficiency due to a novel gene mutation
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新型基因突变导致蛋白C缺乏导致静脉血栓栓塞1例
DOI：
10.1016/j.jccase.2022.07.012
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发表时间：
2022
影响因子：
--
通讯作者：
Morishita Eriko
中科院分区：
文献类型：
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作者：
Noiri Jun-ichi;Matsuzoe Hiroki;Nagaya Satomi;Nishio Ryo;Matsumoto Daisuke;Takaishi Hiroshi;Morishita Eriko
遗传性蛋白 C (PC) 缺乏症是凝血调节剂 PC 的数量或质量异常，导致 PC 活性降低。它是由位于染色体 2q13-q14 上的 PC 基因 (PROC) 突变引起的。尽管遗传性PC缺陷是静脉血栓栓塞（VTE）的重要危险因素，但由于基因检查困难，它常常被忽视。这种疾病的发病率较低，导致缺乏治疗证据。我们报道了一名 21 岁男性因新型 PROC 基因突变 c.566G>A、p.Arg 189 Gln 导致遗传性 PC 缺陷而导致 VTE 的病例。该患者对直接口服抗凝剂治疗无效，但对导管引导溶栓有反应。进一步的家族内遗传调查显示，六名家庭成员中的五名存在相同的突变。 学习目标 由遗传性蛋白 C 缺乏引起的静脉血栓栓塞 (VTE) 对直接口服抗凝剂无效，可能对导管直接溶栓有反应。此外，对于有明显家族史的年轻患者和育龄女性家庭成员的首次 VTE 应考虑进行基因检测。此外，基因检查将有助于为此类患者的治疗建立证据。
Hereditary protein C (PC) deficiency is a quantitative or qualitative abnormality of the coagulation regulator PC resulting in a decreased PC activity. It is caused by mutations in the PC gene (PROC) located on chromosome 2q13-q14. Although hereditary PC deficiency is an important risk factor for venous thromboembolism (VTE), it is often overlooked because of difficulties in genetic examination. The low prevalence of this disease has led to a lack of evidence for its treatment. We report the case of a 21-year-old male with VTE caused by hereditary PC deficiency due to a novelPROCgene mutation, c.566G>A, p.Arg 189 Gln. The patient was refractory to treatment with direct oral anticoagulants, but responded to catheter-directed thrombolysis. Further intrafamilial genetic survey revealed the presence of the same mutation in five of the six family members.Learning objectivesVenous thromboembolism (VTE) caused by hereditary protein C deficiency that is refractory to direct oral anticoagulants may respond to catheter-directed thrombolysis. Furthermore, the first VTE in young patients with a strong family history and female family members of childbearing age should be considered for genetic testing. In addition, genetic examination will help establish evidence for the treatment of such patients.