Hyperhomocystetenemia, MTHFR Mutation Presenting as Unprovoked Pulmonary Embolism.

Abstract

Introduction: For MTHFR as with homocysteine testing, no official guidelines exist as to who should be tested. Homozygosity for the MTHFR C677T mutation has been associated with an increase in blood clotting together with plasma homocysteine increase and DVT occurrence risk. Case report: A 28 year young male patient presented with complaints of sudden onset breathlessness for 5 days. The episodes of breathlessness were associated with diffuse anterior chest pain. There was no history of leg pain, cough, sputum, hemoptysis, fever. No history of prior hospitalization, trauma, surgery and immobilization could be elicited from the patient. He was a non smoker with no other comorbidities. On presentation his pulse rate was 120 per minute, respiratory rate was 22 per minute, blood pressure 146/92 mm Hg, temperature 98.8 ° F, SpO2 of 94% at room air. His general physical examination was unremarkable. Conclusion: Although it has been observed that elevated homocysteine levels are a common finding in patients with cardiovascular disease and thrombosis, its role in its pathogenesis is still under evaluation. Homozygosity for the MTHFR C677T mutation has been associated with increased homocysteine levels. Testing for this mutation is an important parameter in thrombophilia workup of patients with