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Familial hypercholesterolemia, peripheral arterial disease, and stroke: a HuGE minireview

Carolyn M Hutter1, Melissa A Austin, Steve E Humphries

  • 1Institute for Public Health Genetics and Department of Epidemiology, School of Public Health and Community Medicine, University of Washington, 1959 NE Pacific Avenue, Seattle, WA 98195, USA.

American Journal of Epidemiology
|August 24, 2004
PubMed

Insights

Heterozygous familial hypercholesterolemia (FH) is linked to higher cholesterol and heart disease risk. Current research on FH and stroke risk remains inconclusive, despite evidence of increased peripheral arterial disease.

Area of Science:

  • Cardiovascular Science
  • Genetics
  • Neurology

Background:

  • Heterozygous familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by elevated cholesterol levels.
  • FH is associated with an increased risk of premature coronary heart disease and atherosclerosis.
  • The link between FH and stroke risk is currently unclear, with conflicting study results and methodological limitations.

Purpose of the Study:

  • To clarify the association between clinical FH and the risk of stroke.
  • To investigate the relationship between cholesterol levels and ischemic cerebrovascular disease.
  • To understand the public health impact of FH on diagnosis, prognosis, and treatment.

Main Methods:

  • Review of existing studies on FH and stroke risk, including those from the 1980s and recent prospective studies.
  • Analysis of data from the United Kingdom-based Simon Broome Register Group.
  • Examination of prevalence of peripheral arterial disease and intima-media thickness in FH subjects.

Main Results:

  • Conflicting evidence exists regarding FH and stroke risk; some older studies suggested an increased risk, while others found none.
  • A recent prospective study found no excess stroke mortality risk in clinical FH subjects.
  • FH is associated with a significantly increased prevalence (5- to 10-fold) of peripheral arterial disease and increased intima-media thickness.

Conclusions:

  • The association between heterozygous familial hypercholesterolemia and ischemic stroke risk requires further investigation.
  • Despite unclear stroke risk, FH is clearly linked to increased peripheral arterial disease.
  • Elucidating the FH-stroke relationship could improve patient care and understanding of cholesterol's role in cerebrovascular disease.

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