title: [Is detection and treatment of familial hypercholesterolemia indicated in children?].
abstract: Familial hypercholesterolaemia (FH) is a congenital metabolic disorder predisposing to severe atherosclerosis resulting in coronary heart disease sometimes even at early adult age. Children with FH lack the stigmata at physical examination and measuring the cholesterol level does not always enable the clinician to make the diagnosis. In about 70% of the cases, the diagnosis of FH in childhood can be made by means of molecular-biological examination, by demonstrating the underlying defect of the LDL cholesterol receptor gene. In the remaining cases, the combination of the positive family history for cardiovascular diseases and increased total cholesterol and LDL cholesterol levels should suggest the diagnosis of FH. Pharmaceutical agents inhibiting the cholesterol synthesis have been researched very little in children and are not registered in the Netherlands. Nevertheless, drug treatment of children with FH is advisable because of the better possibilities to make a definite diagnosis and the early occurrence of coronary heart disease. If this treatment were indicated before patients reach adult age, the question arises whether screening for FH of children in families in which this disorder prevails, should not be promoted more strongly.
authors.affiliation: Emma Kinderziekenhuis/Academisch Medisch Centrum, Amsterdam.
authors.forename: H D
authors.initials: HD
authors.lastname: Bakker
authors.forename: A
authors.initials: A
authors.lastname: Wiegman
authors.forename: J C
authors.initials: JC
authors.lastname: Defesche
authors.forename: J J
authors.initials: JJ
authors.lastname: Kastelein
mesh_terms: D000293:Adolescent; D000328:Adult; D000924:Anticholesteremic Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D018752:Diet, Fat-Restricted; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D017354:Point Mutation; D011973:Receptors, LDL / Q000235:genetics
chemical_list: D000924:Anticholesteremic Agents; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D011973:Receptors, LDL; D002784:Cholesterol