PULMONARY THROMBOEMBOLISM DUE TO METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) GENE MUTATION PRESENTING WITH ODDBALL PULMONARY COMPLICATIONS
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2018, Vol 5, Issue 1
Abstract
PRESENTATION OF CASE 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.
Authors and Affiliations
Abhishek Gupta, Ketaki Utpat, Unnati Desai, Jyotsna M. Joshi
Keywords
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- EP ID EP448461
- DOI 10.18410/jebmh/2018/19.
- Views 84
- Downloads 0
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