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


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.
Hemostasis Unit, Service of Clinical Pathology, La Fe University Hospital, Avd. Campanar 21, Valencia, Spain. vaya_amp@gva.es
Amparo
A
Vayá
Gema
G
Plumé
Elena
E
Bonet
Paula
P
Carrasco
Maria M
MM
Morales-Suárez-Varela
D000328:Adult; D002784:Cholesterol / Q000378:metabolism; D005260:Female; D005838:Genotype; D006710:Homocysteine / Q000235:genetics; D006801:Humans; D020138:Hyperhomocysteinemia / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D015999:Multivariate Analysis; D009154:Mutation; D013030:Spain; D013152:Splanchnic Circulation; D020246:Venous Thrombosis / Q000235:genetics*
D006710:Homocysteine; D002784:Cholesterol; D042965:Methylenetetrahydrofolate Reductase (NADPH2)