Conflict of interest: None declared.
Familial hypercholesterolaemia in children and adolescents: A new paediatric model of care
Version of Record online: 16 DEC 2012
© 2012 The Authors. Journal of Paediatrics and Child Health © 2012 Paediatrics and Child Health Division (Royal Australasian College of Physicians)
Journal of Paediatrics and Child Health
Volume 49, Issue 4, pages E263–E272, April 2013
How to Cite
Martin, A. C., Coakley, J., Forbes, D. A., Sullivan, D. R. and Watts, G. F. (2013), Familial hypercholesterolaemia in children and adolescents: A new paediatric model of care. Journal of Paediatrics and Child Health, 49: E263–E272. doi: 10.1111/jpc.12036
- Issue online: 11 APR 2013
- Version of Record online: 16 DEC 2012
- Manuscript Accepted: 26 FEB 2012
- familial hypercholesterolaemia;
- LDL cholesterol;
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.