Tag Archives: polygenic hypercholesterolaemia

Familial hypercholesterolaemia or not? The importance of considering polygenic hypercholesterolaemia in those with no monogenic cause for familial hypercholesterolaemia (FH), was outlined by Professor Steve Humphries (UCL Institute of Cardiovascular Science, London).1 By looking for the presence of specific high low-density lipoprotein cholesterol (LDL-C), single nucleotide polymorphisms (SNPs) and combining these to generate a SNP-score, those with the most variants can be identified. Professor Steve Humphries Individuals who are in the top five deciles of the SNP-score are highly likely to have a polygenic explanation for their high LDL-C

Genetic disease The benefits of child-parent screening for familial hypercholesterolaemia (FH), were explored by Professor David Wald (Wolfson Institute of Preventive Medicine, Barts and The London School of Medicine and Dentistry, Queen Mary University of London). Detection rates are highest if FH is screened for in children between one to two years of age – a heel prick test, for example, is quick to carry out at routine immunisation appointments and uptake rates of 84% have been achieved. Screening is effective – a rate of four children and four parents are identified for every 1,000 children screened. The child benefits twice: their