The significance of the MTHFR C677T/A1298C combination polymorphism in deep vein thrombosis: a case report.

A 37-year-old lady got here to the emergency room with belly ache and nausea for about three weeks. She had no recognized danger components for venous thromboembolism apart from taking oral contraceptives as an everyday treatment. Computerized tomography (CT) revealed thrombosis of the portal, superior mesenteric, and spleen veins. Checks for thrombophilia have been unfavourable, aside from the presence of heterozygosity for the methylenetetrahydrofolate reductase mutation (mthfr) gene. Homocysteine ​​and folic acid ranges have been regular. Anticoagulation began. CT follow-up after eight months confirmed a cavernous transformation of the portal vein.

an introduction

Portal vein thrombosis (PVT) happens when there may be obstruction of the portal vein with or with out extension of the splenic or superior mesenteric veins. It’s chargeable for about 5-10% of circumstances of portal hypertension. Signs typically depend upon the situation and dimension of the clot. Vein thrombosis may result from malignancy, thrombotic circumstances equivalent to thrombosis, being pregnant, hormone alternative/oral contraceptives, myeloproliferative issues, and autoimmune ailments. [1]. Mutation in methylenetetrahydrofolate reductase (mthfrThe gene is the commonest reason behind a reasonable enhance in homocysteine [2]. The amino acid causes endothelial dysfunction, prompts the coagulation system, and inhibits the fibrinolytic system [3]. Half the case of a 37-year-old lady presenting with belly ache related to PVT and mthfr The C677T/A1298C polymorphism mixed with regular homocysteine ​​ranges.

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A 37-year-old Caucasian lady appeared within the emergency room with nausea and belly ache. The ache began three weeks in the past as epigastric ache and progressed to spreading belly ache with growing depth to 7/10, with out reduction after analgesics. She had no different signs. She had no comorbidities. Her common treatment has been estrogen-progestin oral contraceptives for 20 years. She had an energetic way of life. You haven’t consumed alcohol, tobacco, or every other kind of drug use. She had no household historical past of thromboembolic occasions. The affected person gave the impression to be distressed by belly ache. Her blood strain was 122/74 mm Hg, pulse price 95 bpm, respiratory price 26 bpm, and temperature 36.1°C. Stomach palpation was mildly painful within the higher quadrants, with no different noticeable indicators on bodily examination. Blood checks had no noticeable modifications. Stomach ultrasound confirmed mesenteric, splenic, and higher portal thrombosis and CT angiography confirmed the thrombotic occasion and excluded different modifications (Fig. 1).

Abdominal CT scan showing splenic thrombosis and portal vein (circle)

They have been inserted and coagulated with enoxaparin 1 mg/kg each 12 hours. Endoscopy and colonoscopy, chest CT scan, mammography, ultrasonography of the breast, neck, thyroid, and myelography have been carried out with none suspicious outcomes. Serological marker checks for hepatitis B, hepatitis C, and HIV have been unfavourable. Genetic testing confirmed regular genotypes for issue V Leiden and prothrombin, and a heterozygous mutation within the heterozygote. mthfr C677T / A1298C. Antithrombin and protein C and S exercise have been regular. No lupus anticoagulants have been detected and anticardiolipin and B-glycoprotein antibodies have been unfavourable; The homocysteine ​​stage was 7 μmol/L (reference vary 4–12) and folic acid was regular. She was discharged with a prescription for warfarin. Eight months after her discharge from hospital, she was asymptomatic and a CT scan confirmed a cavernous shift within the portal vein.

Focus on

The portal vein outcomes from the confluence of the mesenteric and higher spleen veins and drains instantly into the liver [4]. PVT is noticed in 0.6-16% of sufferers with cirrhosis and is chargeable for 5-10% of all circumstances of portal hypertension. Acute PVT normally causes belly ache and the bodily findings are usually not noticeable, besides within the case of intra-abdominal irritation, intestinal infarction, or perforation. Venous thromboembolism is a multifactorial illness brought on by the interplay of genetic components with environmental components [1]. Use of contraception capsules could trigger blood clots by growing ranges of clotting components and lowering ranges of clotting inhibitors [5]. Moreover, mixed oral contraceptives, containing ethinyl estradiol and progesterone, have a higher impact in ladies with hereditary thrombosis (antithrombin deficiency, protein C and protein S deficiency, issue V Leiden mutation, and prothrombin G20210A mutation) [6]. mthfr Variants are additionally related to an elevated danger of venous thromboembolism. MTHFR is a vital enzyme within the remethylation pathway of homocysteine ​​metabolism and molecular defects can result in deficiency of the enzyme, and thus to hyperhomocysteinemia, which is related to an elevated danger of venous thromboembolism. [2]. The amino acid causes endothelial dysfunction, prompts the coagulation system, and inhibits the fibrinolytic system [3]. However, there may be proof of a co-mutation in heterozygosity for each C677T and A1298C from mthfr The gene is related to venous thromboembolism even with out hyperhomocysteinemia [7]. Anticoagulation is the mainstay of PVT remedy, until contraindicated, to allow portal vein re-canalization and forestall portal hypertension. [8]. Portal hypertension is a complication of PVT and its penalties embrace ascites and esophageal varices. The portal vein is anticipated to be recanalized for as much as six months and the mesenteric and splenic veins as much as 12 months of follow-up. Due to this fact, anticoagulant remedy must be given for no less than six months and a CT scan must be carried out to evaluate re-canalization of the portal venous system after 6-12 months of follow-up. If efficient portal re-canalization doesn’t happen, the collateral veins dilate and grow to be tortuous (cavernous shunt of the portal vein) [9].


This case report signifies that carriers of a co-mutation in heterozygosity for C677T and A1298C from mthfr A gene who makes use of oral contraceptives is extra more likely to develop venous thromboembolism. Extra research are wanted to evaluate the connection between inherited thrombophilia, together with MTFR Genotype, use of oral contraceptives that might potentiate their thrombolytic impact. Genetic testing could also be necessary to evaluate clotting dangers earlier than you begin utilizing oral contraceptives.

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