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 beenassociated with an increase in blood clotting together withplasma homocysteine increase and DVT occurrence risk.Case report A 28 year young male patient presented withcomplaints of sudden onset breathlessness for 5 days. Theepisodes of breathlessness were associated with diffuseanterior 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 thepatient. He was a non smoker with no other comorbidities.On presentation his pulse rate was 120 per minute, respiratoryrate was 22 per minute, blood pressure 146/92 mm Hg,temperature 98.8 ° F, SpO2 of 94% at room air. His generalphysical examination was unremarkable.Conclusion: Although it has been observed that elevatedhomocysteine levels are a common finding in patientswith cardiovascular disease and thrombosis, its role in itspathogenesis is still under evaluation. Homozygosity forthe MTHFR C677T mutation has been associated withincreased homocysteine levels. Testing for this mutation is animportant parameter in thrombophilia workup of patients withunprovoked VTE.