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Abstract：
BACKGROUND: There are no univocal opinions on the role of genetic thrombophilia on splanchnic vein thrombosis (SVT). We defined genetic thrombophilia the presence of one of these thrombophilic genetic factors (THRGFs): PAI-1 4G-4G, MTHFR 677TT, V Leiden 506Q, and prothrombin 20210A.
OBJECTIVE: To evaluate the frequencies of these THRGFs in SVT patients, we analyzed individual data of 482 Caucasian patients, recruited from 2000 to 2014 in three prospective studies. SVT was defined as the presence of thrombosis of portal (PVT), mesenteric (MVT), splenic (SPVT), cava (CT), and hepatic vein (Budd Chiari syndrome, BCS). Pre-hepatic SVT (pre-HSVT) was defined as PVT with or without MVT/SPVT, without BCS. Post-hepatic SVT (post-HSVT) was BCS with or without PVT/MVT/SPVT.
METHODS: We compared 350 patients with liver cirrhosis (LC), 47 hepatocellular carcinoma (HCC), 37 myeloproliferative neoplasm (MPN), 38 associated disease (AD), 10 without any associated disease (WAD), vs 150 healthy controls (HC); 437 patients showed pre-HSVT and 45 post-HSVT.
RESULTS: Thrombophilia was present in 294/482 (60.9%) patients: 189/350 LC (54.0%), 31/47 (66.0%) HCC, 29/39 (74.4%) MPN, 35/38 AD (92.1%), and 10/10 (100%) WAD, and 54/150 (36.0%) in HC. In the total group, we found 175 PAI-1 4G-4G, 130 MTHFR 677TT, 42V Leiden 506Q, and 27 prothrombin 20210A; 75 patients showed presence of >1 TRHGF; the more frequent association was PAI-1 4G-4G/MTHFR 677TT, in 36 patients. PAI-1 4G-4G and MTHFR 677TT were significantly more frequent in patients with SVT (P values <0.005), whereas V Leiden Q506 and prothrombin G20210A were not. PAI-1 4G-4G and MTHFR 677TT distributions deviated significantly from that expected from a population in Hardy-Weinberg equilibrium. Thrombophilia was significantly less frequent in patients with pre-HSVT (250/437, 57.2%) than in patients with post-HSVT (44/45, 97.8%).
CONCLUSIONS: Our study shows the significant prevalence of PAI-1 4G-4G and MTHFR 677TT in SVT, mainly in post-HSVT.
OBJECTIVE: To evaluate the frequencies of these THRGFs in SVT patients, we analyzed individual data of 482 Caucasian patients, recruited from 2000 to 2014 in three prospective studies. SVT was defined as the presence of thrombosis of portal (PVT), mesenteric (MVT), splenic (SPVT), cava (CT), and hepatic vein (Budd Chiari syndrome, BCS). Pre-hepatic SVT (pre-HSVT) was defined as PVT with or without MVT/SPVT, without BCS. Post-hepatic SVT (post-HSVT) was BCS with or without PVT/MVT/SPVT.
METHODS: We compared 350 patients with liver cirrhosis (LC), 47 hepatocellular carcinoma (HCC), 37 myeloproliferative neoplasm (MPN), 38 associated disease (AD), 10 without any associated disease (WAD), vs 150 healthy controls (HC); 437 patients showed pre-HSVT and 45 post-HSVT.
RESULTS: Thrombophilia was present in 294/482 (60.9%) patients: 189/350 LC (54.0%), 31/47 (66.0%) HCC, 29/39 (74.4%) MPN, 35/38 AD (92.1%), and 10/10 (100%) WAD, and 54/150 (36.0%) in HC. In the total group, we found 175 PAI-1 4G-4G, 130 MTHFR 677TT, 42V Leiden 506Q, and 27 prothrombin 20210A; 75 patients showed presence of >1 TRHGF; the more frequent association was PAI-1 4G-4G/MTHFR 677TT, in 36 patients. PAI-1 4G-4G and MTHFR 677TT were significantly more frequent in patients with SVT (P values <0.005), whereas V Leiden Q506 and prothrombin G20210A were not. PAI-1 4G-4G and MTHFR 677TT distributions deviated significantly from that expected from a population in Hardy-Weinberg equilibrium. Thrombophilia was significantly less frequent in patients with pre-HSVT (250/437, 57.2%) than in patients with post-HSVT (44/45, 97.8%).
CONCLUSIONS: Our study shows the significant prevalence of PAI-1 4G-4G and MTHFR 677TT in SVT, mainly in post-HSVT.
摘要：
背景：关于遗传性易栓症在内脏静脉血栓形成（SVT）中的作用，没有明确的意见。我们将遗传性血栓形成的定义为存在这些血栓形成的遗传因素之一（THRGFs）：PAI-14G-4G，MTHFR677TT,V莱顿506Q,和凝血酶原20210A。
目的：为了评估SVT患者中这些THRGFs的频率，我们分析了482名白人患者的个体数据，2000年至2014年在三项前瞻性研究中招募。SVT定义为门静脉血栓形成（PVT）的存在，肠系膜(MVT),脾（SPVT），cava(CT),和肝静脉（布加综合征，BCS）。肝前SVT（HSVT前）定义为PVT伴或不伴MVT/SPVT，没有BCS肝后SVT（HSVT后）是有或没有PVT/MVT/SPVT的BCS。
方法：我们比较了350例肝硬化患者，47肝细胞癌（HCC），37骨髓增殖性肿瘤（MPN），38相关疾病（AD），10没有任何相关疾病（WAD），与150名健康对照（HC）相比；437例患者显示HSVT前和45例HSVT后。
结果：294/482（60.9%）患者出现血栓性：189/350LC（54.0%），31/47（66.0%）肝癌，29/39（74.4%）MPN，公元35/38年（92.1%），和10/10(100%)WAD，和54/150（36.0%）的HC。在总组中，我们发现了175个PAI-14G-4G,130MTHFR677TT,42V莱顿506Q，和27凝血酶原20210A;75例患者显示存在>1TRHGF;更常见的关联是PAI-14G-4G/MTHFR677TT,36名患者。PAI-14G-4G和MTHFR677TT在室上性心动过速患者中明显增多（P值<0.005），而VLeidenQ506和凝血酶原G20210A则没有。PAI-14G-4G和MTHFR677TT分布与Hardy-Weinberg平衡中的人口预期显着偏离。HSVT前患者（250/437，57.2％）的血栓形成发生率明显低于HSVT后患者（44/45，97.8％）。
结论：我们的研究表明，在SVT中PAI-14G-4G和MTHFR677TT的患病率很高，主要是在HSVT后。
目的：为了评估SVT患者中这些THRGFs的频率，我们分析了482名白人患者的个体数据，2000年至2014年在三项前瞻性研究中招募。SVT定义为门静脉血栓形成（PVT）的存在，肠系膜(MVT),脾（SPVT），cava(CT),和肝静脉（布加综合征，BCS）。肝前SVT（HSVT前）定义为PVT伴或不伴MVT/SPVT，没有BCS肝后SVT（HSVT后）是有或没有PVT/MVT/SPVT的BCS。
方法：我们比较了350例肝硬化患者，47肝细胞癌（HCC），37骨髓增殖性肿瘤（MPN），38相关疾病（AD），10没有任何相关疾病（WAD），与150名健康对照（HC）相比；437例患者显示HSVT前和45例HSVT后。
结果：294/482（60.9%）患者出现血栓性：189/350LC（54.0%），31/47（66.0%）肝癌，29/39（74.4%）MPN，公元35/38年（92.1%），和10/10(100%)WAD，和54/150（36.0%）的HC。在总组中，我们发现了175个PAI-14G-4G,130MTHFR677TT,42V莱顿506Q，和27凝血酶原20210A;75例患者显示存在>1TRHGF;更常见的关联是PAI-14G-4G/MTHFR677TT,36名患者。PAI-14G-4G和MTHFR677TT在室上性心动过速患者中明显增多（P值<0.005），而VLeidenQ506和凝血酶原G20210A则没有。PAI-14G-4G和MTHFR677TT分布与Hardy-Weinberg平衡中的人口预期显着偏离。HSVT前患者（250/437，57.2％）的血栓形成发生率明显低于HSVT后患者（44/45，97.8％）。
结论：我们的研究表明，在SVT中PAI-14G-4G和MTHFR677TT的患病率很高，主要是在HSVT后。
