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Hyperhomocysteinemia and arterial aneurysm.

P Cacoub1, A Sbai, I Brocheriou

  • 1Service de Médecine Interne, Hĵpital Pitié-Salpétrière, Paris, France.

Annals of Vascular Surgery
|March 21, 2002
PubMed
Summary

Hyperhomocysteinemia (HCY), a risk factor for atherosclerosis, is linked to arterial aneurysms in rare cases. Two men with homozygous MTHFR deficiency developed aneurysms, suggesting HCY

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Area of Science:

  • Vascular Biology
  • Genetics
  • Cardiovascular Disease

Background:

  • Hyperhomocysteinemia (HCY) is a known risk factor for atherosclerosis.
  • Arterial aneurysms are rarely associated with HCY, particularly in heterozygous forms.

Observation:

  • Two male patients, aged 32 and 38, presented with arterial aneurysms and occlusive arterial disease.
  • Both patients had homozygous methylene tetrahydrofolate reductase (MTHFR) deficiency, leading to HCY.
  • Histological examination revealed dystrophic changes in the aneurysmal vessel walls.

Findings:

  • The study identified a potential association between HCY due to homozygous MTHFR deficiency and the development of arterial aneurysms.
  • The findings suggest that HCY-induced pathological changes in vessel walls may contribute to early-onset arterial aneurysms.

Related Experiment Videos

  • The absence of other causative factors in both cases strengthens the link between HCY and arterial aneurysm.

    • Implications:

    • This research highlights the importance of considering HCY in the etiology of arterial aneurysms, especially in young individuals.
    • Early detection and management of HCY may be crucial in preventing or mitigating arterial aneurysm formation.
    • Further investigation into the mechanisms linking HCY to vascular wall pathology is warranted.