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Carriership for homocystinuria in juvenile vascular disease

G H Boers1

  • 1Department of Medicine, University Hospital Nijmegen, The Netherlands.

Haemostasis
|January 1, 1989
PubMed

Insights

Carriers of homocystinuria, a genetic condition, are more prone to developing premature arterial disease. This study found a higher prevalence of this genetic trait in patients with early-onset peripheral arterial and cerebrovascular disease.

Area of Science:

  • Biochemistry
  • Genetics
  • Vascular Medicine

Background:

  • Homocysteine accumulation is linked to vascular disease.
  • Premature ischemic events necessitate understanding underlying causes.
  • Genetic factors may contribute to early-onset arterial disease.

Purpose of the Study:

  • To investigate the frequency of pathological homocysteine accumulation in patients with premature ischemic disease.
  • To determine if heterozygosity for homocystinuria predisposes individuals to early-onset occlusive arterial disease.

Main Methods:

  • Assessed homocysteine levels after methionine loading in 75 patients (peripheral arterial disease, cerebrovascular disease, myocardial infarction).
  • Analyzed fibroblast cultures for cystathionine synthase deficiency to identify homocystinuria carriers.
  • Compared carrier frequency in patient groups to the general population.

Main Results:

  • Homocystinuria carriership was identified in 7 patients with peripheral arterial disease and 7 with cerebrovascular disease.
  • No homocystinuria carriers were found in the myocardial infarction group.
  • The frequency of carriership in these patient groups was significantly higher than the general population (1 in 70).

Conclusions:

  • Heterozygosity for homocystinuria is a significant predisposing factor for premature occlusive arterial disease.
  • Early detection of homocystinuria carriers may aid in preventing ischemic events.
  • Genetic screening for homocystinuria could be beneficial in patients with early-onset vascular disease.

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