PULMONARY THROMBOEMBOLISM DUE TO METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) GENE MUTATION PRESENTING WITH ODDBALL PULMONARY COMPLICATIONS

Abstract

Abhishek Gupta, Ketaki Utpat , Unnati Desai, Jyotsna M. Joshi

Pulmonary Thromboembolism (PTE) has customarily been a diagnostic predicament for treating physician despite breakthroughs in diagnosis and treatment of the disease. Hare-footed diagnosis of this entity is crucial to nutshell, the complications and to forestall mortality. Identification of the risk factors of PTE is an equivalently arduous task. Methylenetetrahydrofolate Reductase (MTHFR) gene mutation is subtle cause of PTE with its pathology enrooted in the resultant hyperhomocysteinaemia and pulmonary infarction inciting parenchymal cavitation and pleural complications like hydropneumothorax is a heteroclite clinical manifestation of the disease. Our case poises unique owing, the dual significance of its rare aetiology and rarer presentation.

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