Tag Archives: familial 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

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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FH and myocardial infarction A report from EUROASPIRE IV, a survey of secondary prevention management in 24 European countries, highlighted the need to consider FH in patients with a myocardial infarction (MI).1 In this cohort of 7,044 patients, 8.3% of MI patients – one in 12 – had a likely FH diagnosis, based on adapted Dutch Lipid Clinic Network Criteria. This rose to about one in five patients had likely FH in those aged less than 50 years. According to Dr Joost Besseling (Academic Medical Center, Amsterdam, The Netherlands): “This study indicates that clinicians should consider the possibility of FH diagnosis in patients with a fir

FH initiative Headlining the Congress was the launch of the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC), a consortium of major FH registries across Europe, Asia-Pacific, Africa and South America, led by Professor Kausik Ray (Imperial College, London). As shown by the previous EAS Consensus Panel statement, FH is one of the most common inherited conditions, yet it is underdiagnosed and undertreated in almost all countries.1 The FHSC will provide information on key aspects relating to FH care which will be critical in leveraging public policy to improve detection and management. Linking patient and clinician empowerment unde

FH: improving detection in primary care The launch of the NICE (National Institute of Health and Care Excellence) guidelines for familial hypercholesterolaemia (FH) heralded great optimism for improving detection rates in primary care.1 Even with new research showing that FH is more common than previously thought,2  still around 80% of patients are not recognised. Novel detection approaches are clearly needed. Professor Nadeem Qureshi (University of Nottingham) presented preliminary findings from six GP centres taking part in FAMCHOL (Feasibility of Improving Identification of Familial Hypercholesterolaemia in General Practice: Intervention