Hyperhomocysteinemia and the methylene tetrahydrofolate reductase C677T mutation in splanchnic vein thrombosis

Eur J Haematol. 2011 Feb;86(2):167-72. doi: 10.1111/j.1600-0609.2010.01551.x. Epub 2010 Dec 29.

Abstract

Introduction: The role that hyperhomocysteinemia (HH) and the C677T mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) play in splanchnic vein thrombosis (SVT) remains unclear due to this unusual thrombotic location.

Objective: To analyse the possible association of HH with the C677T mutation in the MTHFR gene in SVT.

Material and methods: We determined homocysteine levels and the C677T MTHFR mutation, along with classical cardiovascular risk factors, in 48 patients with SVT (18 Budd-Chiari syndrome, 11 mesenteric vein thrombosis, 19 portal vein thrombosis) and 84 controls.

Results: In the univariate analysis, patients with SVT showed statistically higher homocysteine levels (P =0.044). After adjusting for total cholesterol, differences disappeared (P =0.256). However, no differences in homocysteine levels were observed when comparing the three SVT types (P =0.199), even after adjusting for age and total cholesterol (P =0.095). In addition, the prevalence of the TT genotype was no different when controls were compared with patients with SVT (P =0.253) or with SVT subtypes (P =0.885). No association was found between HH (>15 μm) and the TT genotype in cases (P =0.404), controls (P =0.178), or in the different SVT subtypes (P =0.495).

Conclusions: Our results suggest that HH and the homozygous genotype in the MTHFR C677T mutation do not seem to play a role in SVT development.

MeSH terms

  • Adult
  • Cholesterol / metabolism
  • Female
  • Genotype
  • Homocysteine / genetics
  • Humans
  • Hyperhomocysteinemia / genetics*
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Middle Aged
  • Multivariate Analysis
  • Mutation*
  • Spain
  • Splanchnic Circulation*
  • Venous Thrombosis / genetics*

Substances

  • Homocysteine
  • Cholesterol
  • Methylenetetrahydrofolate Reductase (NADPH2)