Tag Archives: familial hypercholesterolaemia

Introduction Lipoprotein(a) (Lp[a]) was discovered in 1963 as an antigen causing rare blood transfusion reactions.1 The antigen was found to be present in the lipoprotein fraction of plasma, hence the name lipoprotein(antigen). As methods for its measurement improved, researchers realised that Lp(a) had a continuous population frequency distribution, which in people of European descent, was markedly positively skewed.2,3 It was also reported that in those with higher concentrations, the prevalence of coronary heart disease was increased. Furthermore, higher levels were inherited; the concentration of Lp(a) was twice as much in men who had ex

CVD prevention past and present Dr Shahed Ahmad from NHS England addresses the conference The scale of CVD deaths, currently 136,000 per year in the UK1 and similar in number to the first year of the COVID-19 pandemic, was highlighted by Dr Shahed Ahmad (NHS England) in his role as National Clinical Director for CVD. He emphasised the importance of tackling CVD as if it were a pandemic. Rather than needing to create vaccines, he said we already have the necessary therapeutics to reduce CVD but these need robust application to our populations. He signposted the CVDPREVENT website2 with its wealth of open access primary care data on metrics, su

What is the future of cardiovascular health? NHS Medical Director Professor Sir Stephen Powis opened the conference by outlining the growing need to provide high quality cardiovascular care. With a quarter of deaths in England attributable to cardiovascular disease and a wider cost to the economy of £15.8 billion per year,1 there is an urgent need for innovative care pathways and new technologies. He showcased virtual wards as one example of innovation, with over 100,000 patients having been managed remotely in 2022.2 In Liverpool, a Telehealth team has successfully utilised a medical monitoring app to manage patients at home, leading to a 1

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

Introduction Familial hypercholesterolaemia (FH) is a monogenic disorder characterised by excessive levels of low-density lipoprotein-cholesterol (LDL-C) and associated with significant cardiovascular morbidity and mortality.1 A reduction in LDL-C levels is the mainstay of treatment in FH and evidence-based guidelines have proposed treatment goals for these patients. The National Institute for Health and Care Excellence (NICE) recommends at least a 50% reduction in LDL-C levels from the baseline measurement in patients with FH,2 while the European Atherosclerosis Society and the International FH Foundation suggest target LDL-C levels of <2

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

Detecting undiagnosed familial hypercholesterolaemia (FH) in the community and helping families manage the condition before it leads to a cardiovascular disease (CVD) event was one of the key themes of the conference. A second important theme was taking action on the risk factors and behaviours that are linked to CVD and other non-communicable diseases (NCDs). These risk factors and behaviours have been understood for decades, yet the challenges of finding effective ways to help the population change to healthier behaviours, and how to assess and monitor this in clinical practice, remain. Professor Huon Gray, National ClinicalDirector for He

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