Methylenetetrahydrofolate reductase polymorphism in young patients with stroke and human immunodeficiency virus
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Keywords

Stroke
Hyperhomocysteinemia
Folic Acid
Methylenetetrahydrofolate Reductase
HIV
genetic testing

Abstract

Introduction: Stroke in young patients is associated with unconventional risk factors. The active search for these risk factors can reduce the recurrence of such events.

Case report: We present two cases of young patients with human immunodeficiency virus (HIV) infection presenting neurological symptoms, with evidence of a subacute ischemic event in the magnetic resonance, and high homocysteine levels who underwent a search for the methylenetetrahydrofolate reductase (MTHFR) mutation, which was positive for the homozygous mutation.

Discussion: HIV infection increases the risk of stroke in the young population; however, its effect in patients with controlled viremia is unclear. The presence of protein S deficiency and hyperhomocysteinemia are the most frequent procoagulant states in patients with HIV. The role of genetic mutations and hyperhomocysteinemia in patients with HIV is yet to be established.

Conclusion: The active search for rare risk factors in young stroke patients plays an important role in preventing future events and modifying the course of the disease. Genetic tests open up new possibilities to understand the pathophysiology of the disease and find new relationships between risk factors.

https://doi.org/10.22379/anc.v40i2.1581

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