A tale of A1298C mutation and recurrent Pulmonary Embolism: a rare association

Pulmonary Embolism (PE) and Deep Venous Thrombosis (DVT) represent critical manifestations within the spectrum of Venous Thromboembolic Disease (VTE). The MTHFR A1298C gene mutation occurs in approximately 7% to 12% of individuals in North America, Europe, and Australia. It is less prevalent among Hispanic populations, with a frequency of 4% to 5%, and even lower in Chinese and Asian populations, where it ranges from 1% to 4%. A 50-year-old male with a history of recurrent PE and long-term anticoagulation, despite effective anticoagulation, was not getting relieved. Genetic testing revealed a heterozygous MTHFR A1298C mutation which is very rare and elevated serum homocysteine levels, contributing to a hypercoagulable state. Comprehensive evaluation and management are essential to prevent further thromboembolic events in such patients.