Small Bowel Infarction by Mesenteric Venous Thrombosis due to Methylenetetrahydrofolate Reductase Gene Mutation.
- Author:
In Young PARK
1
;
Byoung Joo DO
;
Jae Sung AHN
;
Jae Hyuk LEE
;
Jun Ho PARK
;
Jin Gu KANG
;
Bo Kyung YANG
;
Hyoung Su KIM
Author Information
1. Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea. hskim@hallym.or.kr
- Publication Type:Case Report
- Keywords:
Methylenetetrahydrofolate reductase;
Hyperhomocysteinemia;
Mesenteric veins;
Thrombosis;
Mutation
- MeSH:
Adult;
Comorbidity;
Homocysteine;
Humans;
Hyperhomocysteinemia;
Infarction*;
Ischemia;
Mesenteric Veins;
Metabolism;
Methylenetetrahydrofolate Reductase (NADPH2)*;
Mortality;
Risk Factors;
Thromboembolism;
Thrombophilia;
Thrombosis;
Venous Thrombosis*
- From:Soonchunhyang Medical Science
2014;20(2):112-115
- CountryRepublic of Korea
- Language:English
-
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.