一名复发性静脉血栓栓塞患者的抗凝血酶III缺乏症：病例报告。
Antithrombin III deficiency in a patient with recurrent venous thromboembolism: A case report.
作者信息
Luo Jia-Qing, Mao Shuai-Shuai, Chen Jin-Yi, Ke Xue-Ying, Zhu Yue-Feng, Huang Wei, Sun Hai-Ming, Liu Zhen-Jie
机构信息
Department of Vascular Surgery, Changxing People's Hospital, Changxing 313100, Zhejiang Province, China.
Department of Endocrinology, Changxing People's Hospital, Changxing 313100, Zhejiang Province, China.
出版信息
World J Clin Cases. 2023 Jul 16;11(20):4956-4960. doi: 10.12998/wjcc.v11.i20.4956.
BACKGROUND
Antithrombin III (AT3) deficiency, an autosomal dominant disease, increases the likelihood of an individual developing venous thromboembolism (VTE). Long-term anticoagulation treatment is required for those suffering from AT3 deficiency.
CASE SUMMARY
A man aged 23, who had a history of deep venous thrombosis (DVT), experienced recurrent pain and swelling in his right lower extremity for three days following withdrawal of Rivaroxaban. He was diagnosed with DVT and antithrombin III deficiency as genetic testing revealed a single nucleotide variant in (c.667T>C, p.S223P). The patient was advised to accept long-term anticoagulant therapy.
CONCLUSION
Inherited AT3 deficiency due to mutations results in recurrent VTE. Patients may benefit from long-term anticoagulant therapy.
背景
抗凝血酶III（AT3）缺乏症是一种常染色体显性疾病，会增加个体发生静脉血栓栓塞（VTE）的可能性。患有AT3缺乏症的患者需要长期抗凝治疗。
病例摘要
一名23岁男性，有深静脉血栓形成（DVT）病史，在停用利伐沙班三天后，右下肢反复出现疼痛和肿胀。他被诊断为DVT和抗凝血酶III缺乏症，因为基因检测显示（c.667T>C，p.S223P）存在单核苷酸变异。建议患者接受长期抗凝治疗。
结论
由突变引起的遗传性AT3缺乏症会导致复发性VTE。患者可能从长期抗凝治疗中获益。
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