August 16, 2025Open Access

Unprovoked Thrombosis in a Young Male Revealing a Rare Coexistence of Antiphospholipid Syndrome and Double Heterozygous MTHFR Mutation With Hyperhomocysteinemia

Key Points

Acute pulmonary thromboembolism presented in a 39-year-old male, highlighting a critical thrombotic risk.
The patient exhibited both antiphospholipid syndrome and compound heterozygous MTHFR mutation, increasing complications.
Case study involved imaging confirming thrombosis in lungs and legs, necessitating immediate medical attention.
Early detection of overlapping thrombophilic conditions is vital for effective management and prevention.

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.

Unprovoked Thrombosis in a Young Male Revealing a Rare Coexistence of Antiphospholipid Syndrome and Double Heterozygous MTHFR Mutation With Hyperhomocysteinemia

Key Points

Abstract

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