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ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Issue 1
Jan.  2014
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Article Contents

Significance of factor V Leiden mutation in Budd- Chiari syndrome and portal vein thrombosis

DOI: 10.3969/j.issn.1001-5256.2014.01.025
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  • Received Date: 2013-05-23
  • Published Date: 2014-01-20
  • Budd- Chiari syndrome and portal vein thrombosis are two rare vascular disorders of the liver and may be complicated by severe diseases like liver failure and portal hypertension. Studies have shown that factor V Leiden ( FVL) mutation is an important risk factor for both Budd- Chiari syndrome and portal vein thrombosis in Western countries. However, FVL mutation is rarely observed in Chinese patients with Budd- Chiari syndrome. The significance of FVL mutation in the pathogenesis of Budd- Chiari syndrome and portal vein thrombosis is reviewed. It is suggested that prospective studies regarding the prevalence of FVL mutation in Chinese patients with portal vein thrombosis are warranted to judge the necessity of screening for FVL mutation.

     

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  • [1]de STEFANO V, MARTINELLI I.Splanchnic vein thrombosis:clinical presentation, risk factors and treatment[J].Intern Emerg Med, 2010, 5 (4) :487-494.
    [2]de LEVE LD, VALLA DC, GARCIA-TSAO G.Vascular disorders of the liver[J].Hepatology, 2009, 49 (5) :1729-1764.
    [3]GAO Y, JIA JD.2009 AASLD Vascular disorders of the liver practice guidelines[J].J Clin Hepatol, 2010, 26 (1) :9-13. (in Chinese) 高岩, 贾继东.2009年AASLD肝脏血管疾病诊疗指南要点[J].临床肝胆病杂志, 2010, 26 (1) :9-13.
    [4]WANG ZG, LI CM, LI Z, et al.Evolution and prospects of Budd-Chiari syndrome[J].J Clin Hepatol, 2011, 27 (2) :113-115. (in Chinese) 汪忠镐, 李春民, 李震, 等.布-加综合征的进展与展望[J].临床肝胆病杂志, 2011, 27 (2) :113-115.
    [5]ZHANG W, YU YZ.Application of multi-slice spiral CT angiography in the diagnosis and treatrnent of portal hypertension[J].Chin J Pract Intern Med, 2012, 32 (1) :72-74. (in Chinese) 张伟, 于永征.多排螺旋CT血管成像在门静脉高压诊治中的应用[J].中国实用内科杂志, 2012, 32 (1) :72-74.
    [6]QI X, HU F, YANG Z, et al.JAK2V617F mutation and myeloproliferative disorders in splanchnic vein thrombosis[J].Aliment Pharmacol Ther, 2011, 33 (4) :495-496.
    [7]QI X, ZHANG C, HAN G, et al.Prevalence of the JAK2V617F mutation in Chinese patients with Budd-Chiari syndrome and portal vein thrombosis:a prospective study[J].J Gastroenterol Hepatol, 2012, 27 (6) :1036-1043.
    [8]QI X, WU F, REN W, et al.Thrombotic risk factors in Chinese Budd-Chiari syndrome patients.An observational study with a systematic review of the literature[J].Thromb Haemost, 2013, 109 (5) :878-884.
    [9]QI X, HE C, HAN G, et al.Prevalence of paroxysmal nocturnal hemoglobinuria in Chinese patients with Budd-Chiari syndrome or portal vein thrombosis[J].J Gastroenterol Hepatol, 2013, 28 (1) :148-152.
    [10]QI X, DE STEFANO V, WANG J, et al.Prevalence of inherited antithrombin, protein C, and protein S deficiencies in portal vein system thrombosis and Budd-Chiari syndrome:A systematic review and meta-analysis of observational studies[J].J Gastroenterol Hepatol, 2013, 28 (3) :432-442.
    [11]BERTINA RM, KOELEMAN BP, KOSTER T, et al.Mutation in blood coagulation factor V associated with resistance to activated protein C[J].Nature, 1994, 369 (6475) :64-67.
    [12]EMMERICH J, ROSENDAAL FR, CATTANEO M, et al.Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism-pooled analysis of 8 case-control studies including2310 cases and 3204 controls.Study Group for Pooled-Analysis in Venous Thromboembolism[J].Thromb Haemost, 2001, 86 (3) :809-816.
    [13]BOEKHOLDT SM, BIJSTERVELD NR, MOONS AH, et al.Genetic variation in coagulation and fibrinolytic proteins and their relation with acute myocardial infarction:a systematic review[J].Circulation, 2001, 104 (25) :3063-3068.
    [14]DONAHUE BS, GAILANI D, HIGGINS MS, et al.Factor V Leiden protects against blood loss and transfusion after cardiac surgery[J].Circulation, 2003, 107 (7) :1003-1008.
    [15]de STEFANO V, CHIUSOLO P, PACIARONI K, et al.Epidemiology of factor V Leiden:clinical implications[J].Semin Thromb Hemost, 1998, 24 (4) :367-379.
    [16]DENNINGER MH, BELDJORD K, DURAND F, et al.BuddChiari syndrome and factor V Leiden mutation[J].Lancet, 1995, 345 (8948) :525-526.
    [17] MAHMOUD AE, WILDE JT, ELIAS E.Budd-Chiari syndrome and factor V Leiden mutation[J].Lancet, 1995, 345 (8948) :526-526.
    [18]LEVOIR D, EMMERICH J, ALHENC-GELAS M, et al.Portal vein thrombosis and factor V Arg 506 to Gln mutation[J].Thromb Haemost, 1995, 73 (3) :550-551.
    [19]DENNINGER MH, HELLEY D, VALLA D, et al.Prospective evaluation of the prevalence of factor V Leiden mutation in portal or hepatic vein thrombosis[J].Thromb Haemost, 1997, 78 (4) :1297-1298.
    [20]MAHMOUD AE, ELIAS E, BEAUCHAMP N, et al.Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis[J].Gut, 1997, 40 (6) :798-800.
    [21]JANSSEN HL, MEINARDI JR, VLEGGAAR FP, et al.Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis:results of a case-control study[J].Blood, 2000, 96 (7) :2364-2368.
    [22]DENTALI F, GALLI M, GIANNI M, et al.Inherited thrombophilic abnormalities and risk of portal vein thrombosis.a meta-analysis[J].Thromb Haemost, 2008, 99 (4) :675-682.
    [23]FENG B, XU K, JIANG H, et al.Relationship between factor V Leiden mutation and Chinese Budd-Chiari syndrome and its clinical significance[J].Chin Med J, 2000, 80 (5) :354-357. (in Chinese) 冯博, 徐克, 姜宏, 等.Fv Leiden突变与我国汉族人布-加综合征的相关性及其临床意义[J].中华医学杂志, 2000, 80 (5) :354-357.
    [24]ZHENG H, LIAN JH, QI H, et al.FV Leiden and FIIG20210A mutations in patients with Budd-Chiari syndrome[J].J Zhengzhou Univ:Med Sci, 2005, 40 (3) :456-458. (in Chinese) 郑红, 连建华, 齐华, 等.布-加综合征患者FVLeiden, FIIG20210A突变检测[J].郑州大学学报:医学版, 2005, 40 (3) :456-458.
    [25]LIN GL, XU PQ, QI H, et al.A study on the correlations between pathogenesis of Budd-Chiari syndrome and Factor V Leiden and Factor II G20210A mutations[J].Chin J Gen Surg, 2006, 21 (4) :275-277. (in Chinese) 林国领, 许培钦, 齐华, 等.布加综合征与凝血因子V Leiden及凝血酶原基因G20210A突变的关系研究[J].中华普通外科杂志, 2006, 21 (4) :275-277.
    [26]YU CW, GAO Y, GENG XP, et al.The research on the mutation of coagulation factor V of diseased tissues in Budd-Chiari Syndrome[J].J Clin Surg, 2007, 15 (11) :743-745. (in Chinese) 余朝文, 高涌, 耿小平, 等.布加综合征病变组织因子V突变的研究[J].临床外科杂志, 2007, 15 (11) :743-745.
    [27]CHENG D, XU H, LU ZJ, et al.Clinical features and etiology of Budd-Chiari syndrome in Chinese patients:a single-center study[J].J Gastroenterol Hepatol, 2013, 28 (6) :1061-1067.
    [28]QI X, WANG J, REN W, et al.Familial Budd-Chiari syndrome in China:A systematic review of the literature[J].ISRN Hepatology, 2013, 2013 (2013) :1-7.
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