title: Familial hypercholesterolaemia in children and adolescents: a new paediatric model of care.
abstract: Familial hypercholesterolaemia (FH) is a common genetic disorder affecting more than 8000 children and adolescents throughout Australia. It results in marked elevation in plasma low-density lipoprotein cholesterol levels from birth that predisposes individuals to premature coronary heart disease in adult life. The majority of children and adolescents with FH are undiagnosed, as symptoms and signs only develop after decades of hypercholesterolaemia. Cascade screening of family members after detecting FH in an index case is an effective approach that allows the diagnosis of FH to be made in the young, before significant atherosclerosis develops. With the availability of effective therapies, mainly statins, paediatricians are ideally placed to improve the outcomes of this disorder by detecting and managing hypercholesterolaemia in childhood, thereby preventing premature coronary artery disease. We describe a new paediatric model of care for FH.
authors.affiliation: Department of Paediatric and Adolescent Medicine, Princess Margaret Hospital for Children, Perth,Western Australia, Australia. andrew.martin@health.wa.gov.au
authors.forename: Andrew C
authors.initials: AC
authors.lastname: Martin
authors.forename: John
authors.initials: J
authors.lastname: Coakley
authors.forename: David A
authors.initials: DA
authors.lastname: Forbes
authors.forename: David R
authors.initials: DR
authors.lastname: Sullivan
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
mesh_terms: D000293:Adolescent; D000328:Adult; D000924:Anticholesteremic Agents / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use; D050197:Atherosclerosis / Q000235:genetics* / Q000473:pathology / Q000517:prevention & control; D001384:Azetidines / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use; D002648:Child; D000013:Congenital Abnormalities / Q000209:etiology* / Q000517:prevention & control; D023921:Coronary Stenosis / Q000235:genetics* / Q000473:pathology / Q000517:prevention & control; D018450:Disease Progression; D042241:Early Diagnosis; D000069438:Ezetimibe; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use*; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D008297:Male; D059039:Standard of Care
chemical_list: D000924:Anticholesteremic Agents; D001384:Azetidines; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D000069438:Ezetimibe