Karasu Z, Nart D, Lebe E, Demirbas T, Memis A, Kilic M, Akyildiz M, Tokat Y
Department of Gastroenterology, Ege University Medical Faculty, 35100 Bornova, Izmir, Turkey.
Transplant Proc. 2003 Dec;35(8):3008-10. doi: 10.1016/j.transproceed.2003.10.038.
A point mutation in the factor V Leiden gene is the most common hereditary thrombophilic state and an important risk factor for Budd-Chiari syndrome. We report on a patient with Budd-Chiari syndrome secondary to factor V Leiden mutation, who underwent successful liver transplantation. Following liver transplantation, his thrombophilic state was corrected and he did not require anticoagulation therapy. There has been no recurrent venous thrombosis for 14 months after transplantation. Although his activated protein C sensitivity was normal, showing the normalization of protein C-factor V interaction, PCR analysis demonstrated that heterozygosity for factor V Leiden mutation was still present. We suggest checking resistance to activated protein C, rather than PCR analysis of factor V Leiden mutation in patients with Budd-Chiari syndrome after liver transplantation; the presence of the second does not effect clinical outcome.
因子V莱顿基因的点突变是最常见的遗传性血栓形成倾向状态，也是布加综合征的重要危险因素。我们报告了1例继发于因子V莱顿突变的布加综合征患者，该患者接受肝移植手术获得成功。肝移植后，其血栓形成倾向状态得到纠正，无需抗凝治疗。移植后14个月未出现复发性静脉血栓形成。尽管其活化蛋白C敏感性正常，提示蛋白C-因子V相互作用正常，但聚合酶链反应（PCR）分析显示仍存在因子V莱顿突变杂合子。我们建议，对于肝移植后布加综合征患者，应检测活化蛋白C抵抗，而非进行因子V莱顿突变的PCR分析；后者的存在不影响临床结局。
