Prevalence of thrombotic risk factors in Chinese Budd–Chiari syndrome patients

Abstract

Thrombotic risk factors, such as myeloproliferative neoplasms, factor V Leiden mutation, prothrombin G20210A mutation, paroxysmal nocturnal hemoglobinuria, etc., are common in western patients with Budd–Chiari syndrome (BCS) [1,2]. However, recent observational studies have shown that these risk factors are rarely observed in Chinese BCS patients [3–5]. More recently, this discrepancy has been further confirmed by other studies [6,7]. However, considering that the current evidence is limited, a prospective study has been carried out to further validate these previous findings. Between 1 January 2012 and 30 June 2012, a total of 26 consecutive patients who were diagnosed with BCS and first admitted to our department were eligible for this study. However, one patient with concomitant hepatocellular carcinoma was excluded. Thus, 25 patients were finally included. According to the location of occlusion, BCS was classified as pure hepatic vein occlusion (n = 4), pure inferior vena cava occlusion (n = 0), and combined occlusion of hepatic vein and inferior vena cava (n = 21). Demographic data (male: 14; female: 11; mean±SD of age: 35.7±13.2) and laboratory tests are shown in Supplementary Table 1. The results of thrombotic risk factors are presented in Table 1. The JAK2 V617F mutation, the JAK2 exon 12 mutation, and the MPL W515 L/K mutation were negative in all patients. Neither factor II G20210A mutation nor the factor V Leiden mutation was found in any patient. One patient was diagnosed with paroxysmal nocturnal hemoglobinuria because of both CD55 and CD59 deficiencies on granulocytes. Serum erythropoietin level below the reference range was not found in any patients. The heterozygous and the homozygous MTHFR mutation were found in 14 and four patients, respectively. Anticardiolipin IgG antibodies were negative in all patients.