Work

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

Year: 2025

Type: article

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.

Source: Cureus

DOI: 10.7759/cureus.90260

Authors: Iswarya Lakshme, Avinash C, N Senthil, Viswanathan Pandurangan

Institution: Sri Ramachandra Institute of Higher Education and Research

Language: English

Topic: Systemic Lupus Erythematosus Research

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4413452322