Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia

J Intern Med. 2003 Feb;253(2):161-8. doi: 10.1046/j.1365-2796.2003.01070.x.


Objective: Patients with familial hypercholesterolaemia (FH) vary widely in terms of onset of cardiovascular disease (CVD).

Design: The association between cardiovascular risk factors and prevalent CVD was examined in a cross-sectional study in order to elucidate their contribution to atherogenesis.

Setting and subjects: Patients were recruited from 37 Dutch Lipid Clinics. The diagnosis of FH was based on a uniform diagnostic protocol, confirmed by DNA analysis in 62% of the cases. All patients were investigated free from any lipid-lowering drug for at least 6 weeks.

Main outcome measures: Differences in lipids, lipoproteins and other risk factors for CVD were analysed in FH patients with and without CVD.

Results: A total of 526 patients were assessed and more than 37% had a history of CVD with a mean age of onset of 46.8 years. Mean LDL cholesterol (LDL-C) levels were severely elevated (8.38 +/- 2.13 mmol L-1). In univariate analysis, age, presence of hypertension or diabetes, body mass index, triglycerides (TG) and low HDL cholesterol (HDL-C) were all significantly associated with CVD. Also in multivariate analysis, all these risk factors, except TG and diabetes, were significantly linked to CVD.

Conclusion: A high CVD risk in this large well-documented characterized sample of FH patients is not only conferred by elevated LDL-C but also by low HDL-C.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiovascular Diseases / epidemiology
  • Cardiovascular Diseases / etiology*
  • Cholesterol, HDL / blood
  • Cholesterol, LDL / blood
  • Cross-Sectional Studies
  • Female
  • Homocysteine / blood
  • Humans
  • Hyperlipoproteinemia Type II / complications*
  • Hyperlipoproteinemia Type II / epidemiology
  • Lipids / blood
  • Male
  • Middle Aged
  • Netherlands / epidemiology
  • Prevalence
  • Risk Factors


  • Cholesterol, HDL
  • Cholesterol, LDL
  • Lipids
  • Homocysteine