Portal Vein Thrombosis in a Patient With Methylenetetrahydrofolate Reductase Gene Mutation and Normal Homocysteine Levels

亚甲基四氢叶酸还原酶基因突变且同型半胱氨酸水平正常的患者发生门静脉血栓形成

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Abstract

A 21-year-old male presented with chief complaints of abdominal pain, nausea, and vomiting and was found to have portal vein thrombosis (PVT) on computed tomography (CT) scan of the abdomen, which was redemonstrated on ultrasound. Thrombophilia workup was negative except that patient was heterozygous for methylenetetrahydrofolate reductase (MTHFR) gene mutation. Homocysteine levels were normal. The patient was started on enoxaparin and discharged on apixaban with the plan to continue anticoagulation for at least six months. Follow-up MRI after four months showed interval improvement of the main portal vein thrombus with the use of Eliquis.

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