Soonchunhyang Med Sci.  2014 Dec;20(2):112-115. 10.0000/sms.2014.20.2.112.

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

Affiliations
  • 1Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea. hskim@hallym.or.kr
  • 2Department of Surgery, Hallym University Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea.
  • 3Digestive Disease Center, Hallym University Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea.

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.

Keyword

Methylenetetrahydrofolate reductase; Hyperhomocysteinemia; Mesenteric veins; Thrombosis; Mutation

MeSH Terms

Adult
Comorbidity
Homocysteine
Humans
Hyperhomocysteinemia
Infarction*
Ischemia
Mesenteric Veins
Metabolism
Methylenetetrahydrofolate Reductase (NADPH2)*
Mortality
Risk Factors
Thromboembolism
Thrombophilia
Thrombosis
Venous Thrombosis*
Homocysteine
Methylenetetrahydrofolate Reductase (NADPH2)
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