Tag Archives: FH

While most of the recommendations in the new guideline remain unchanged, there are some key updates including the use of the new lipid modifying drugs- PCSK9 inhibitors (for which NICE technology appraisal guidance exists), treatment of children and recommendations to search medical records for those who may be at risk. The guideline also recommends that those at risk of FH should be offered DNA tests to confirm they have the condition. Previously, low-density lipoprotein cholesterol (LDL-C) levels have been used but they are not always accurate. At the moment only 15% of the estimated 260,000 people in the UK with FH have been diagnosed, inc

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

The first day of the conference focused on hyperlipidaemia in children. In the opening address Professor Albert Wiegman (University of Amsterdam, The Netherlands) presented compelling data on the importance of screening and identifying children with familial hypercholesterolaemia (FH) so they can be effectively treated and early cardiovascular events prevented. Professor Albert Wiegman (University of Amsterdam, The Netherlands) FH is one of the most common genetic disorders in the world. Both heterozygous, and to a greater extent homozygous FH, can be disabling at a young age and shorten life expectancy. Homozygous familial hypercholesterolae