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

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.

Deep venous thrombosis and pulmonary embolism after COVID-19 mRNA vaccination

“…In a pooled analysis investigating the association between different genetic alterations and VTE, the risk of VTE was increased in patients with homozygous C677T MTHFR mutation who are heterozygous for FVL [ 9 ]. Venous thromboembolism such as portal vein thrombosis has also been reported in a patient with heterozygous A1298A MTHFR mutation [ 10 ]. The association of all these factors including heterozygous FVL, homozygous MTHFR, and a robust inflammatory response after the vaccine could explain the occurrence of VTE in our patient (Fig.…”