The Importance of MTHFR C677T/A1298C Combined Polymorphism in Deep Vein Thrombosis: A Case Report

Cureus. 2022 Sep 17;14(9):e29265. doi: 10.7759/cureus.29265. eCollection 2022 Sep.

Abstract

A 37-year-old woman presented in the emergency room with abdominal pain and nausea for about three weeks. She had no known risk factors for venous thromboembolism beyond taking oral contraceptives as a regular medication. Computed tomography (CT) scan revealed portal, superior mesenteric and splenic vein thrombosis. Thrombophilia tests were negative, except for the presence of heterozygosity for mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. Homocysteine levels and folic acid were normal. Anticoagulation was started. Follow-up CT after eight months showed cavernous transformation of the portal vein.

Keywords: abdominal pain; acute portal vein thrombosis; increase in homocysteine; mesenteric venous thrombosis; mthfr a1298c mutation; mthfr c677t; mthfr mutation; oral contraceptive pills side effect; porto-splenic-mesenteric thrombosis; testing for thrombophilia.

Publication types

  • Case Reports