Small Bowel Infarction by Mesenteric Venous Thrombosis due to Methylenetetrahydrofolate Reductase Gene Mutation

ABSTRACT

Acute mesenteric venous thrombosis (MVT) is an uncommon form of intestinal ischemia with high mortality and usually occurs in the setting of preexisting comorbidities including thrombophilia and abdominal inflammatory conditions. Hyperhomocysteinemia has been known to be a risk factor for thromboembolism, often located on an unusual site. Considering that homocysteine metabolism is determined genetically to a high degree, a mutant of methylenetetrahydrofolate reductase (MTHFR) C677T causes hyperhomocysteinemia, leading to thrombophilia. Until now, there have been few reports of MVT associated with MTHFR gene mutation. We, herein, report a case of small bowel infarction associated with MVT by MTHFR gene mutation in an adult without any other risk factors of thrombophilia.