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Study of child-parent screening for familial hypercholesterolaemia

Centre of Environmental and Preventive Medicine

Funding Body: Medical Research Council
Project Investigator: David Wald


Familial Hypercholesterolaemia (FH) is the most important and common inherited cause of heart disease.

It results in high blood levels of LDL-cholesterol and a high risk of myocardial infarction at a young age. Treatment with cholesterol lowering drugs is effective in prevention, but there is no systematic method for identifying all or nearly all cases in the population.

The Child-parent Screening study is a new approach at screening for this disorder that is based on measuring cholesterol in children aged 1-2 years when they attend for routine childhood immunisation. A combined blood test-immunisation procedure is used. Evidence indicates that this is be the most accurate age to screen for FH.

Cholesterol levels and genetic tests have been carried out in over 10,000 children, and the parents of FH screen positive children (half of whom will be positive themselves), in 92 General Practices across England.

The study is complete and the results were published in the New England Journal of Medicine on October 27th 2016. The paper can be accessed here.


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