Mesenteric Venous Thrombosis With Bowel Infarction and Hyperhomocysteinemia Due to Homozygous Methylenetetrahydrofolate Reductase C677T Genotype

Andercou, Octavian; Andercou, A

doi:10.1177/1538574408316141

Cited by 5 publications

(3 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…and Amitrano et al ., 34 who reported a strong association between MTHFR C677T homozygous state and the occurrence of non‐tumorous PVT in cirrhotic patients. Further, few individual case reports had illustrated the potential importance of MTHFR gene mutation in the development of PVT 35–37 . Genetic thrombophilia is a risk factor for PVT in cirrhotic patients undergoing endoscopic sclerotherapy 38 …”

Section: Discussionmentioning

confidence: 99%

Portal vein thrombosis in Egyptian patients with liver cirrhosis: Role of methylenetetrahydrofolate reductase C677T gene mutation

Gabr¹,

Bessa²,

El-Zamarani

2010

Hepatology Research

View full text Add to dashboard Cite

The TT genotype of MTHFR is associated with an increased risk of PVT in Egyptian cirrhotic patients. Hyperhomocysteinemia could be considered as a relatively new risk factor for PVT in cirrhotic patients and plasma homocysteine should be investigated particularly in patients with PVT of unexplained etiology. The important clinical implication is that the readily available therapy of folate, vitamin B6 and B12 supplementation may reduce homocysteine and prevent further thrombotic complications in cirrhotic patients carrying the TT genotype.

show abstract

Section: Discussionmentioning

confidence: 99%

Portal vein thrombosis in Egyptian patients with liver cirrhosis: Role of methylenetetrahydrofolate reductase C677T gene mutation

Gabr¹,

Bessa²,

El-Zamarani

2010

Hepatology Research

View full text Add to dashboard Cite

show abstract

“…The gastrointestinal tract accounts for ϳ25% of whole body transmethylation and transsulfuration pathways and is a prominent site of net Hcy release (3,36). HHcy due to methylene tetrahydrofolate reductase (MTHFR) gene polymorphism was reported as one of the risk factors of mesenteric venous thrombosis leading to infarction of the bowel (18). HHcy due to methylene tetrahydrofolate reductase (MTHFR) gene polymorphism was reported as one of the risk factors of mesenteric venous thrombosis leading to infarction of the bowel (18).…”

mentioning

confidence: 99%

Hyperhomocysteinemia decreases intestinal motility leading to constipation

Givvimani

Munjal

Narayanan

et al. 2012

American Journal of Physiology-Gastrointestinal and Liver Physi

View full text Add to dashboard Cite

Elevated levels of plasma homocysteine (Hcy) called hyperhomocysteinemia (HHcy) have been implicated in inflammation and remodeling in intestinal vasculature, and HHcy is also known to aggravate the pathogenesis of inflammatory bowel disease (IBD). Interestingly, colon is the pivotal site that regulates Hcy levels in the plasma. We hypothesize that HHcy decreases intestinal motility through matrix metalloproteinase-9 (MMP-9)-induced intestinal remodeling leading to constipation. To verify this hypothesis, we used C57BL/6J or wild-type (WT), cystathionine β-synthase (CBS(+/-)), MMP-9(-/-), and MMP-9(-/-) + Hcy mice. Intestinal motility was assessed by barium meal studies and daily feces output. Plasma Hcy levels were measured by HPLC. Expression of ICAM-1, inducible nitric oxide synthase, MMP-9, and tissue inhibitors of MMPs was studied by Western blot and immunohistochemistry. Reactive oxygen species (ROS) including super oxide were measured by the Invitrogen molecular probe method. Tissue nitric oxide levels were assessed by a commercially available kit. Plasma Hcy levels in the treated MMP-9 group mice were comparable to CBS(+/-) mice. Barium meal studies suggest that intestinal motility is significantly decreased in CBS(+/-) mice compared with other groups. Fecal output-to-body weight ratio was significantly reduced in CBS(+/-) mice compared with other groups. There was significant upregulation of MMP-9, iNOS, and ICAM-1 expression in the colon from CBS(+/-) mice compared with WT mice. Levels of ROS, superoxide, and inducible nitric oxide were elevated in the CBS(+/-) mice compared with other groups. Results suggest that HHcy decreases intestinal motility due to MMP-9-induced intestinal remodeling leading to constipation.

show abstract

“…Until now, it has been reported that C677T polymorphism in MTHFR gene is related to various diseases such as cardiovascular diseases, Alzheimer's disease, depression, some cancers, and neural tube defects [2]. However, there are rare reports of MVT associated with MTHFR gene mutation [3].…”

Section: Introductionmentioning

confidence: 99%

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

Park

Joo

Ahn

et al. 2014

Soonchunhyang Med Sci

View full text Add to dashboard Cite

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.

show abstract

Mesenteric Venous Thrombosis With Bowel Infarction and Hyperhomocysteinemia Due to Homozygous Methylenetetrahydrofolate Reductase C677T Genotype

Cited by 5 publications

References 14 publications

Portal vein thrombosis in Egyptian patients with liver cirrhosis: Role of methylenetetrahydrofolate reductase C677T gene mutation

Portal vein thrombosis in Egyptian patients with liver cirrhosis: Role of methylenetetrahydrofolate reductase C677T gene mutation

Hyperhomocysteinemia decreases intestinal motility leading to constipation

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

Contact Info

Product

Resources

About