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Fault in Our Genes: A Case of Pulmonary Thromboembolism in Young
Tushar Grover1, Kunal Chawla, Rishikesh M Dessai
1Department of Internal Medicine, Sir Ganga Ram Hospital, New Delhi, India.
Abstract:
Methylenetetrahydrofolate reductase (MTHFR) enzyme is one of the key enzymes involved in the metabolism of folate. Mutations in this enzyme can lead to a procoagulant state. We present a case of a 20-year-old male with no known comorbidities, who presented with fever and hemoptysis and was diagnosed as a case of pulmonary embolism. He was found to have a homozygous mutation in the MTHFR gene that was responsible for his disease state. He was started on unfractionated heparin infusion and underwent catheter-directed thrombolysis. He showed marked improvement in his condition and was discharged on oral anticoagulants with an advice to follow-up.
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