MTHFR C677T polymorphism and hyperhomocysteinemia in recurrent arterial thrombosis: a case report

Hyperhomocysteinemia (HHcy) and the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism have been investigated as potential contributors to thrombotic events, including in patients with premature cardiovascular disease. To present a case that illustrates the link between MTHFR C677T heterozygosity and hyperhomocysteinemia in recurrent arterial thrombosis, and to emphasise the clinical relevance of genetic screening and targeted management. This observational, cross-sectional, case study details the case of a 44-year-old male patient with premature coronary artery disease, who has undergone multiple percutaneous interventions and experienced recurrent arterial thrombosis. Genetic testing confirmed heterozygosity for the MTHFR C677T polymorphism and hyperhomocysteinaemia. Genetic testing revealed MTHFR C677T heterozygosity and hyperhomocysteinemia (18.6 µmolL-1). Following intervention, clinical stabilisation was achieved within six months, with homocysteine levels reducing to 10.2 µmolL-1 and no new thrombotic events occurring. This case illustrates the clinical context in which MTHFR C677T heterozygosity and hyperhomocysteinemia may be identified in a patient with premature and recurrent thrombotic disease. This case highlights the potential relevance of considering genetic and metabolic factors in selected patients with premature or recurrent thrombotic disease.