title: Genetic and metabolic factors predicting risk of cardiovascular disease in familial hypercholesterolemia.
abstract: Familial hypercholesterolemia is a hereditary metabolic disorder characterised by high low-density lipoprotein cholesterol levels and an extreme risk of premature cardiovascular disease. In patients with heterozygous familial hypercholesterolemia a substantial variation is seen in both the severity of the hypercholesterolemia and onset of atherosclerotic disease symptoms. We discuss the contribution of additional atherogenic risk factors of metabolic, environmental and genetic origin. Subclinical disease measurements, such as the intima media thickness (IMT), assessed by ultrasonography, may contribute to a better risk prediction of future cardiovascular disease in these patients.
authors.affiliation: Department of Medicine, Division of General Internal Medicine, University Medical Center Nijmegen, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. t.smilde@aig.azn.nl
authors.forename: T J
authors.initials: TJ
authors.lastname: Smilde
authors.forename: S
authors.initials: S
authors.lastname: van Wissen
authors.forename: H
authors.initials: H
authors.lastname: Wollersheim
authors.forename: J J
authors.initials: JJ
authors.lastname: Kastelein
authors.forename: A F
authors.initials: AF
authors.lastname: Stalenhoef
mesh_terms: D001055:Apolipoproteins B / Q000235:genetics; D002318:Cardiovascular Diseases / Q000209:etiology*; D002352:Carrier Proteins / Q000235:genetics; D053480:Cholesterol Ester Transfer Proteins; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006023:Glycoproteins; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000235:genetics / Q000378:metabolism; D007249:Inflammation; D008071:Lipoprotein Lipase / Q000235:genetics; D017270:Lipoprotein(a) / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011237:Predictive Value of Tests; D011973:Receptors, LDL / Q000235:genetics; D012307:Risk Factors
chemical_list: D001055:Apolipoproteins B; C506642:CETP protein, human; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D006023:Glycoproteins; D017270:Lipoprotein(a); D011973:Receptors, LDL; D008071:Lipoprotein Lipase