Hyperhomocysteinaemia, low folate concentrations and methylene tetrahydrofolate reductase C677T mutation in acute mesenteric venous thrombosis.

Abstract

Acute mesenteric venous thrombosis (AMVT) was first reported by Fagge and was recognised as a distinct clinical entity by Warreen in 1935. However, its pathogenesis is still unclear. Elevated plasma levels of homocysteine (Hcy) are associated with an increased risk of deep vein thrombosis. This case-control study examines the potential association among hyperhomocysteinaemia (hyper-Hcy), low serum folate and vitamin B(12) levels and the common C677T mutation of the MTHFR gene in patients with AMVT. Sixty-three patients with AMVT and 75 sex- and age-matched healthy controls were recruited, and their plasma Hcy, folate and vitamin B(12) levels were measured by high performance liquid chromatography (HPLC) and immunological assays. The polymorphism of MTHFR C677T was detected by PCR-RFLP. The mean plasma Hcy levels were significantly higher in patients with AVMT compared with controls (23.5 standard deviation (S.D.) 8.8 vs. 12.6+/-6.6micromoll(-1), P<0.01). The fasting Hcy correlated negatively with folate (AMVT: r=-0.42, P<0.01; r=-0.40, P<0.01). The frequency of homozygous (TT) genotype in MTHFR C677T mutation was significantly higher in patients with AMVT than that in control subjects (33% vs. 17%; chi square (chi(2))=6.31, P<0.05; odds ratio (OR)=2.80; 95% confidence interval (CI): 1.25-6.25). Compared with the control subjects, the mean serum vitamin B(12) levels were lower in patients, but it was not statistically significant (365+/-88pmoll(-1) vs. 408+/-108pmoll(-1), P>0.05). Hyper-Hcy and low serum folate levels were associated with an increased risk of AMVT. The homozygous (TT) genotype of MTHFR gene mutation may be a crucial hereditary risk factor in the development of AMVT for a Chinese population.