ArticleCureus2025
Unprovoked Thrombosis in a Young Male Revealing a Rare Coexistence of Antiphospholipid Syndrome and Double Heterozygous MTHFR Mutation With Hyperhomocysteinemia.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Abstract
A case of acute pulmonary thromboembolism (PTE) in a 39-year-old male who presented with progressive dyspnea and left lower limb pain. Imaging studies confirmed extensive pulmonary and deep venous thrombosis. A hypercoagulability workup revealed primary antiphospholipid syndrome (APS) with positive lupus anticoagulant and beta-2 glycoprotein antibodies, along with a compound heterozygous methylenetetrahydrofolate reductase (MTHFR) mutation and hyperhomocysteinemia. This case highlights the significant thrombotic risk posed by the co-occurrence of APS and the compound heterozygous MTHFR mutation. Early identification of such overlapping thrombophilic conditions is crucial for prompt management and effective secondary prevention.
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