Familial Hypercholesterolaemia (child)
The UK NSC policy on Familial hypercholesterolaemia screening in children
More Information
Familial hypercholesterolaemia (or hyperlipidaemias) are inherited metabolic disorders which include harmful disorders resulting in an excess of cholesterol and/or triglyceride in the blood. Cholesterol is transported round the body in combination with proteins, known as lipoproteins, low density lipoproteins (LDL) and beneficial high density lipoproteins (HDL). Triglyceride travels within very low density lipoproteins (VLDL) and chylomicrons.
» Read more about hyperlipidaemia on the Contact a Family website
Policy Position
The UK NSC supports the current project on cascade screening of the relatives of patients with confirmed familial hypercholesterolaemia. The project is not a screening pilot, but funded by the Department of Health as an initiative under the Genetic White Paper "Our Inheritance, Our future" published in June 2003.
This policy was reviewed in Jul 2006 and significant changes were made. It is due to be considered again in 2011/12, or earlier if significant new evidence emerges.
Evidence Supporting the Policy
Health Technology Assessment 2000; vol 4, no.29: "Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: a systematic review and cost-effectiveness analysis"
Genetic White Paper "Our Inheritance, Our Future - realising the potential of genetics in the NHS" 2003
Stakeholders
Children Living with Inherited Metabolic Diseases
Genetic Alliance UK
HEART UK
Institute of Child Health
The stakeholder groups will be involved when the policy is next reviewed. If you think your organisation should be added, please contact us.
