Recurrent deep vein thrombosis in a young patient of African descent: challenging the prevailing stance on the significance of MTHFR C677T mutation

Abstract

Abstract Background Although numerous gene variations, such as those in the methylenetetrahydrofolate reductase (MTHFR) gene, have been implicated in an increased risk of venous thrombosis, current recommendations do not advocate genetic testing if there is no clinically meaningful association with thrombosis. Case Presentation A 30-year-old male patient presented with left lower limb swelling of two days with prior history of deep vein thrombosis and superficial thrombophlebitis. His left lower limb was grossly swollen. Doppler study showed thrombosis of left common femoral, superficial femoral and iliac veins and work up for inherited thrombophilia was negative except detection of MTHFR C677T mutation. Conclusion In spite of the great controversy regarding the strong association between MTHFR C677T mutation and venous thromboembolism, it is worth considering genetic testing as part of work-up for inherited thrombophilia in young patients, particularly of African descent, if they have recurrent deep vein thrombosis with no obvious risk factors.