Title: Frequency of thrombotic risk factors in Chinese familial Budd-Chiari Syndrome
Abstract: Budd-chiari syndrome (BCS) is a rare but clinically challenging disorder caused by obstruction of the hepatic veins or suprahepatic inferior vena cava [ [1] Janssen H.L. Garcia-Pagan J.C. Elias E. Mentha G. Hadengue A. Valla D.C. et al. Budd-Chiari syndrome: a review by an expert panel. J Hepatol. 2003; 38: 364-371 Abstract Full Text Full Text PDF PubMed Scopus (384) Google Scholar ]. In western countries, BCS is associated with one or more underlying pro-thrombotic conditions, including acquired and inherited risk factors such as myeloproliferative neoplasms, JAK2 V617F mutation, factor V Leiden (FVL) mutation, factor II G20210A mutation, MTHFR mutation, etc. However, the related factors are rare in Chinese BCS patients [ 2 Qi X. Wu F. Ren W. He C. Yin Z. Niu J. et al. Thrombotic risk factors in Chinese Budd-Chiari syndrome patients. An observational study with a systematic review of the literature. Thromb Haemost. 2013; 109: 878-884 Crossref PubMed Scopus (61) Google Scholar , 3 Qi X. Zhang C. Han G. Zhang W. He C. Yin Z. et al. Prevalence of the JAK2V617F mutation in Chinese patients with Budd-Chiari syndrome and portal vein thrombosis: a prospective study. J Gastroenterol Hepatol. 2012; 27: 1036-1043 Crossref PubMed Scopus (59) Google Scholar , 4 Wang H. Sun G. Zhang P. Zhang J. Gui E. Zu M. et al. JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients. J Gastroenterol Hepatol. 2014; 29: 208-214 Crossref PubMed Scopus (28) Google Scholar , 5 Cheng D. Xu H. Lu Z.J. Hua R. Qiu H. Du H. et al. Clinical features and etiology of Budd-Chiari syndrome in Chinese patients: a single-center study. J Gastroenterol Hepatol. 2013; 28: 1061-1067 Crossref PubMed Scopus (59) Google Scholar , 6 Qi X. Wu F. Fan D. Han G. Prevalence of thrombotic risk factors in Chinese Budd-Chiari syndrome patients: results of a prospective validation study. Eur J Gastroenterol Hepatol. 2014; 26: 576-577 Crossref PubMed Scopus (11) Google Scholar ]. On the other hand, among the general population in China, the mutant allele frequency of MTHFR is present in about 35% [ 7 Pepe G. Camacho Vanegas O. Giusti B. Brunelli T. Marcucci R. Attanasio M. et al. Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase. Am J Hum Genet. 1998; 63: 917-920 Abstract Full Text Full Text PDF PubMed Scopus (102) Google Scholar , 8 Schneider J.A. Rees D.C. Liu Y.T. Clegg J.B. Worldwide distribution of a common methylenetetrahydrofolate reductase mutation. Am J Hum Genet. 1998; 62: 1258-1260 Abstract Full Text Full Text PDF PubMed Scopus (234) Google Scholar ], but the prevalence of a coagulant factor V gene G1691A mutation or prothrombin gene G 20210A mutation is zero [ 9 Rees D.C. Cox M. Clegg J.B. World distribution of factor V Leiden. Lancet. 1995; 346: 1133-1134 Abstract PubMed Google Scholar , 10 Lu Y. Zhao Y. Liu G. Wang X. Liu Z. Chen B. et al. Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population. Thromb Res. 2002; 106: 7-12 Abstract Full Text Full Text PDF PubMed Scopus (56) Google Scholar , 11 Jun Z.J. Ping T. Lei Y. Li L. Ming S.Y. Jing W. Prevalence of factor V Leiden and prothrombin G20210A mutations in Chinese patients with deep venous thrombosis and pulmonary embolism. Clin Lab Haematol. 2006; 28: 111-116 Crossref PubMed Scopus (54) Google Scholar ]. Therefore, the result would be very interesting, if we did a screening for the risk factors in familial BCS patients.
Publication Year: 2014
Publication Date: 2014-08-12
Language: en
Type: letter
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 2
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