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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
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
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.
- 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.