Get access

Familial hypercholesterolaemia in children and adolescents: A new paediatric model of care

Authors

  • Andrew C Martin,

    Corresponding author
    1. School of Paediatrics, School of Child Health, University of Western Australia
    • Department of Paediatric and Adolescent Medicine, Princess Margaret Hospital for Children
    Search for more papers by this author
  • John Coakley,

    1. Department of Paediatrics and Clinical Biochemistry, The Children's Hospital at Westmead
    Search for more papers by this author
  • David A Forbes,

    1. Department of Paediatric Gastroenterology, Princess Margaret Hospital for Children
    2. School of Paediatrics, School of Child Health, University of Western Australia
    Search for more papers by this author
  • David R Sullivan,

    1. Department of Biochemistry and Lipid Clinic, Royal Prince Alfred Hospital
    2. University of Sydney, Sydney, New South Wales, Australia
    Search for more papers by this author
  • Gerald F Watts

    1. School of Medicine and Pharmacology, University of Western Australia
    2. Lipid Disorders Clinic, Metabolic Research Centre and Department of Internal Medicine, Royal Perth Hospital, Perth, Western Australia
    Search for more papers by this author

  • Conflict of interest: None declared.

Correspondence: Dr Andrew C Martin, Department of Paediatric and Adolescent Medicine, Princess Margaret Hospital for Children, GPO Box D184, Perth, WA 6840, Australia. Fax: + 61 89340 7652; email: andrew.martin@health.wa.gov.au

Abstract

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.

Ancillary