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Annual Medical and Scientific Virtual Conference 2021 Review

HEART UK 34th Annual Medical and Scientific Virtual Conference 2021 REVIEW

The HEART UK conference this year turned its attention to, how we can reduce uncertainty surrounding the diagnosis of familial hypercholesterolaemia (FH). In addition, the importance of Lipoprotein (a) was revisited and an overview of the current projects aimed at improving FH identification and management, was given.

Session 1: FH or not?

Professor Steve Humphries (London, UK) outlined the importance of considering polygenic hypercholesterolaemia in those with no monogenic cause for FH. By looking for the presence of specific LDL cholesterol (LDL-C) raising, single nucleotide polymorphisms (SNP’s) and combining these to generate a SNP-Score, those with the most variants can be identified. Individuals who are in the top 5 deciles of the SNP-score are highly likely to have a polygenic explanation for their high LDL-C and this presents clinicians and patients with a genetic explanation for their raised LDL-C. While future risk of early heart disease is lower in the polygenic than the monogenic patients, both groups will need robust cholesterol lowering management.

Dr Maggie Williams (Bristol, UK) described the complex processes behind identifying and categorising variants of uncertain significance (VUS) in FH. Establishing whether a VUS is potentially pathogenic is a complex science and a MDT approach is paramount in this process, combining genetic, scientific and clinical information. Using a standardised evidence based approach, variants can be reclassified as likely pathogenic and therefore over time, as such research progresses we can expect the 5 gene FH panel to identify more FH patients, as this knowledge of disease causing variants is further refined.

Session 3: Lp(a)

Dr Mike France (Manchester, UK) talked through the complexities surrounding accurate Lipoprotein(a) quantification. This now well-established independent risk factor for atherosclerotic cardiovascular disease (ASCVD) poses a challenge for assay manufacturers due to its molecular diversity. Until assays become available which are able to measure Lp(a) uniformly without being biased to different forms of the molecule. Acceptable accuracy of assays has been achieved by use of calibrants allowing correction for the effect of isoform size and the use of a calibration protocol assigning vales determined by an isoform insensitive assay under the aegis of the IFCC. In the absence of truly isoform insensive assays. caution is needed when comparing results from different centres. Professor Paul Durrington, (Manchester, UK) outlined how patients with FH are more likely to have elevated Lp(a), therefore  highlighting the indication for routine measurement of this in FH patients at baseline. This information may then assist in making treatment decisions. Professor Sam Tsimikas, (San Diego, USA) then talked through some exciting areas of research such as emerging RNA therapeutics to target Lp(a), with promising candidates such as Pelacarsen set to have clinical outcomes data by 2024

Session 4 – Myant lecture

In the Myant lecture this year Professor Andrew Neil, Emeritus Professor of Clinical Epidemiology, University of Oxford, took the audience on a journey from the first described cases of FH in the medical literature by Müller in 1938, to the present day, detailing key developments along the way; such as the establishment of the Simon Broome FH register. We now have a wealth of evidence showing that treatment interventions, such as statins, save lives in this condition, however we still have a long way to go, given its widespread underdiagnosis.

Session 6 – Breaking barriers in lipid management

Victoria Spellacy of the NHS Accelerated Access Collaborative (AAC) and Dr Joe Chidanyika of the Academic Health Science Network (AHSN) outlined how the NHS Long Term Plan has identified cardiovascular disease as a clinical priority and the single biggest area where lives can be saved by the NHS over the next 10 years. In order to address this, the AAC aim to accelerate the uptake of clinical and cost-effective innovations (such as PCSK9 inhibitors) with for example, developing a NICE-endorsed clinical pathway. The AHSN is working on strategies to overcome the commonly encountered barriers in the area of lipid management and FH. This will include innovations to improve FH identification and developing a consistent national approach to lipid management, to name but a few of their objectives. 1 in 250 of the UK population is thought to have FH, of whom less than 8% are currently identified. These exciting national programmes look set to dramatically improve care for those with cholesterol disorders, in the near future.

Essential Primary Care programme

In an afternoon session covering an interesting range of topics, Alan Flanagan, (Surrey, UK) highlighted the importance of replacing dietary saturated fats with unsaturated fats, especially polyunsaturated fats, and/or high-quality carbohydrates such as whole grains, in order to reduce coronary heart disease risk. Dr James Howard, (London, UK) co-author of the SAMSON trial, presented data from their study looking into statin side effects. 60 patients with previous statin intolerance were allocated to receive either a placebo tablet, no therapy or a statin. Their side effects were then recorded over a 12-month period using a smart phone app. As would be expected, when taking no treatment, symptoms were minimal. On statins, side effects were widespread and fascinatingly, when taking a placebo, symptoms were ‘90% as bad’ as when taking statins. This study provides further evidence of the ‘nocebo effect’ with statins, whereby patient perceptions of taking the treatment are able to influence the side effects encountered. Importantly, following completion of the trial, after the patients were able to see their personalised results, 50% of these previously untreated statin intolerant patients, were now taking statins.

Virtual format over the following dates: Wednesday 7th July, Tuesday 13th July, Thursday 15th July, Tuesday 20th July and Thursday 22nd July.

Written by: Dr Andreas Tridimas, ST7 registrar in Chemical Pathology & Metabolic Medicine, Countess of Chester Hospital, UK

 

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