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J Intern Med. 2003 Feb;253(2):161-8.

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

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Department of Vascular Medicine, Academic Medical Center Amsterdam, G1-114, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.



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


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


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.


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


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.


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.

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