Giofrè Maria Concetta, Napoli Francesca, La Rosa Daniela, Caruso Alessia, Laganà Natascia, Orlando Settembrini Lucia, Saitta Antonino, Versace Antonio Giovanni
Department of Clinical and Experimental Medicine, Azienda Ospedaliera Universitaria - Policlinico "G. Martino", Messina, Italy.
Azienza Ospedaliera "Pugliese-Ciaccio", Catanzaro, Italy.
Am J Case Rep. 2017 Nov 2;18:1157-1159. doi: 10.12659/ajcr.906035.
BACKGROUND Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene. CASE REPORT A patient with a personal and family history of recurrent thrombosis and pulmonary embolism was admitted to our Internal Medicine Department. After the most common acquired risk factors for thromboembolism were ruled out, the patient and her family members underwent genetic diagnostic testing. These tests showed homozygous 4G/4G polymorphism of the PAI-1 gene in 14 subjects, homozygous 4G/4G polymorphism of the PAI-1 gene and C677T/A1298C polymorphism of the MTHFR gene in 4 subjects, and heterozygous 4G/4G polymorphism of the PAI-1 gene and C677T/A1298C polymorphism of the MTHFR gene in 3 subjects. Afterwards, we initiated the administration of Rivaroxaban, with beneficial results. CONCLUSIONS No thrombotic recurrence has been observed in the patient since 2014. This case report shows the efficacy and superiority of Rivaroxaban over traditional anticoagulants in the treatment of hereditary thrombophilia. Further studies are clearly needed before Rivaroxaban can be recommended as a standard treatment in patients with inherited thrombophilia.
背景 血栓形成倾向是一种易于发生血栓形成的体质。遗传原因包括抗凝血酶III、蛋白C、蛋白S、凝血因子V莱顿突变、凝血酶原20210A等位基因以及亚甲基四氢叶酸还原酶（MTHFR）突变。近期研究还发现了其他导致血栓形成和肺栓塞的遗传因素，包括纤溶酶原激活物抑制剂-1（PAI-1）基因的4G/4G多态性。病例报告 一名有复发性血栓形成和肺栓塞个人及家族史的患者入住我院内科。在排除了最常见的获得性血栓栓塞危险因素后，该患者及其家庭成员接受了基因诊断检测。检测结果显示，14名受试者存在PAI-1基因纯合4G/4G多态性，4名受试者存在PAI-1基因纯合4G/4G多态性以及MTHFR基因C677T/A1298C多态性，3名受试者存在PAI-1基因杂合4G/4G多态性以及MTHFR基因C677T/A1298C多态性。之后，我们开始给予利伐沙班治疗，效果良好。结论 自2014年以来，该患者未观察到血栓复发。本病例报告显示了利伐沙班在治疗遗传性血栓形成倾向方面相对于传统抗凝剂的疗效和优势。在利伐沙班可被推荐作为遗传性血栓形成倾向患者的标准治疗方法之前，显然还需要进一步研究。
