Inherited coagulation disorders in cirrhotic patients with portal vein thrombosis
Inherited coagulation disorders in cirrhotic patients with portal vein thrombosis
复制标题
DOI：
10.1002/hep.510310213
复制
发表时间：
2000-02-01
期刊：
影响因子：
13.5
通讯作者：
Balzano, A
中科院分区：
文献类型：
--
作者：
Amitrano, L;Brancaccio, V;Balzano, A
无肝细胞癌的肝硬化患者中门静脉血栓（PVT）的患病率和发病机制尚不明确。血栓形成遗传因素在其他静脉血栓性疾病以及非肝硬化门静脉血栓形成中的作用已得到充分证实。最近，已发现新的遗传性血栓形成倾向性疾病（V 因子 Leiden [FVL]、凝血酶原 G20210A 突变 [PTHR A(20210)] 和亚甲基四氢叶酸还原酶 TT677 突变 [MTHFR C677-->T]），并与静脉血栓形成风险增加相关。我们研究的目的是调查这些血栓形成性疾病在肝硬化患者 PVT 发病机制中的作用。纳入 23 例伴有 PVT 的肝硬化患者和 40 例不伴有 PVT 的肝硬化患者。以184例深静脉血栓（DVT）患者和431名健康人为对照，通过聚合酶链反应和限制性分析鉴定FVL、PTHR A(20210)和MTHFR C-677-->T基因型，FVL、PTHR A(20210)突变和纯合子MTHFR C-677-->T频率为13%，伴有PVT的肝硬化患者分别为34.8%和43.5%，而无PVT的肝硬化患者则分别为7.5%、2.5%和5%。前一组中的五名患者存在相关缺陷。在 69.5% 的 PVT 患者中检测到血栓形成基因型，这一高危人群的识别可能对适合接受大手术或肝移植的患者产生影响，并可能影响口服抗凝药物的持续时间。
The prevalence and pathogenesis of portal vein thrombosis (PVT) in patients with cirrhosis without hepatocellular carcinoma are not clearly defined, The role of thrombophilic genetic factors is well established in other venous thrombotic diseases, as well as in noncirrhotic portal thrombosis. Recently, new, inherited thrombophilic disorders (factor V Leiden [FVL], mutation G20210A of prothrombin [PTHR A(20210)], and mutation TT677 of methylenetetrahydrofolate reductase [MTHFR C677-->T]) have been identified and associated with increased risk of venous thrombosis. The aim of our study was to investigate the role of these thrombophilic disorders in the pathogenesis of PVT in cirrhotic patients. Twenty-three cirrhotic patients with PVT and 40 cirrhotics without PVT were included. A group of 184 patients with deep vein thrombosis (DVT) and 431 healthy persons served as controls, The FVL, PTHR A(20210), and MTHFR C-677-->T genotypes were identified by a polymerase chain reaction and restriction analysis, The frequencies of FVL, PTHR A(20210) mutation, and homozygous MTHFR C-677-->T were 13%, 34.8%, and 43.5% in cirrhotic patients with PVT and 7.5%, 2.5%, and 5% in cirrhotic patients without PVT, respectively. Five patients in the former group had associated defects. A thrombophilic genotype was detected in 69.5% of the patients with PVT Identification of this high-risk group may have implications in patients who are candidates for major surgery or liver transplantation, and may influence the duration of oral anticoagulation.