Hypercoagulability and the A1298C MTHFR Mutation: Case Series of Unexplained Pulmonary Embolism

Methylenetetrahydrofolate reductase gene (MTHFR) mutations can lead to hyperhomocysteinemia, a known risk factor for venous thromboembolism. In some studies, the A1298C and C677T polymorphisms of the MTHFR gene have been linked to thrombosis, though their clinical significance remains debated. This case presents a detailed analysis of two premenopausal females who presented with pulmonary embolism and were subsequently diagnosed with the A1298C mutation, indicating a potential relation between the A1298C mutation of the MTHFR gene and the subsequent triggering events of thrombotic manifestations associated with raised levels of homocysteine. The varying clinical presentations and biochemical profiles underscore the complex relationship between genotype and phenotype in MTHFR-associated thrombophilias.