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EAS 2017 April 26: FH News - Update on EAS FH Studies Collaboration, and more...

27 April 2017   (0 Comments)
Posted by: Charlotta Johansson
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In this packed session, Professor Kausik Ray (Imperial College, UK), lead of the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) provided an update on the status of this important initiative. Publication of the Call to Action paper1 in 2015 highlighted the need for urgent global action to improve FH care. The FHSC has now published the rationale and methods of this collaboration, which is available free to download To date, 74 lead investigators from 62 different regions, covering every continent (but excluding the USA), have agreed to take part in this initiative, with data received so far from more than 4000 patients from 10 countries. The ultimate aim of the EAS FHSC is to drive policy change to improve FH care.

As part of the EAS FH Studies Collaboration, the Homozygous FH (HoFH) International Clinical Collaboration (HICC) registry has been launched to collect data specific to this very rare condition. The key aims are to investigate the prevalence, clinical consequences and treatment of HoFH. One of the lead Co-ordinators, Dr G. Kees Hovingh (Academic Medical Center, Amsterdam, The Netherlands) provided an update on the status of the HICC registry at EAS Congress Prague. Currently, HICC has received data from nearly 200 of the planned 500-600 HoFH patients, and it is anticipated that data from the first 300 patients will be presented next year. During the discussion session, questions were raised whether the data was sufficiently detailed to investigate key regional issues. For example, the frequency of HoFH may be higher where there is both a higher prevalence of heterozygous FH, and consanguinity is common as in some countries in the Middle East.2,3

Dr Kees Hovingh and Professor Derick Raal (University of the Witwatersrand, Johannesburg, South Africa) discuss the key aims of the HICC registry in this video

This session also included presentations about the cost effectiveness of cascade screening, investigation of real life use of the PCSK9 inhibitor alirocumab in high risk patients (both with and without FH), as well as information from the FH universal screening programme in Slovenia.

Professor Steve Humphries (Institute of Cardiovascular Science, University College London, UK) presented the results of a recently published UK modelling analysis which confirmed that cascade testing for FH was highly cost effective in the NHS setting in England and Wales.4 The estimated incremental cost effectiveness ratio (ICER) was £5,806 (substantially below the threshold of £20,000 used in the UK). More than 80% of lifetime costs were diagnosis-related and incurred in the first year. Based on estimates of an average reduction of 44% in coronary heart disease (CHD) mortality, and 60% reduction in MI, for every 1,000 relatives tested, over 30 years, 64 MIs, 57 cases of angina, 15 strokes and 23 deaths would be averted, at a cost saving of £2.8 million. The analysis also highlighted the importance of diagnosing at a young age because of the greater impact on events and associated complications avoided.  

However, Professor Humphries did note that there was a low rate of relatives tested per mutation-positive index case (1.33). Given that this is a key driver of the cost of testing, if this rate was increased to 3.2 (as predicted based on the UK National Institute for Health and Care Excellence in 2008), the ICER would reduce to £2280. 

Professor Daniel Gaudet (Université de Montréal, Canada) discussed the ODYSSEY APPRISE trial, which aimed to evaluate the safety and efficacy of alirocumab in a real life setting in 13 European countries and Canada.5 This interim analysis included data from the first 522 patients (mean age 56.8 years, 64% male, 67% with heterozygous FH, 66% with established cardiovascular disease). The characteristics of the patient cohort were consistent with very high risk patients as recommended by the recent ESC/EAS Task Force on the use of PCSK9 inhibitors in clinical practice.6 It is highly relevant that in this very high-risk cohort, only 59% of patients were on high intensity statin; a key reason to explain this was the high incidence of statin tolerability issues (54%). The analysis showed that while two-thirds of patients were initiated on alirocumab 75 mg every 2 weeks (versus one-third on the higher dose regimen of 150 mg every 2 weeks, based on the clinician’s judgement), by week 12, about half of patients were on either regimen. The mean change in LDL cholesterol at week 12 was 55% (absolute reduction 2.58 mmol/L), consistent with clinical trial data.

Finally, there were data from the Slovenia universal hypercholesterolaemia paediatric screening programme, including 155 children with FH and 117 with multifactorial FH, presented by Dr Urh Groselj (University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia). FH was confirmed in over half of patients referred through this screening programme. Consistent with data reported for adults,7 cholesterol levels were higher in children with FH compared with those for whom hypercholesterolaemia was considered to be polygenic or multifactorial.


EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, Akram A, Kondapally Seshasai SR et al. Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration. Atheroscler Suppl 2016 Dec;22:1-32. doi: 10.1016/j.atherosclerosissup.2016.10.001. Epub 2016 Dec 7.

1. Vallejo-Vaz AJ, Kondapally Seshasai SR et al. Familial hypercholesterolaemia: A global call to arms. Atherosclerosis 2015;243:257-9.

2. Al-Ashwal A, Alnouri F, Sabbour H et al. Identification and Treatment of Patients with Homozygous Familial Hypercholesterolaemia: Information and Recommendations from a Middle East Advisory Panel. Curr Vasc Pharmacol 2015;13:759-70.

3. Middle East Health online. Consanguineous marriage: Should it be discouraged?

4. Kerr M, Pears R, Miedzybrodzka Z et al. Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK. Eur Heart J 2017. doi: 10.1093/eurheartj/ehx111. [Epub ahead of print].

5. Gaudet D, Lopez-Sendon JL, Averna M et al. The ODYSSEY APPRISE trial: rationale and interim data. Presented at EAS Congress Prague, 26th April 2017.

6. Landmesser U, Chapman MJ, Farnier M et al. European Society of Cardiology/European Atherosclerosis Society Task Force consensus statement on proprotein convertase subtilisin/kexin type 9 inhibitors: practical guidance for use in patients at very high cardiovascular risk. Eur Heart J. 2016 Oct 27. pii: ehw480. [Epub ahead of print]

7. Khera AV, Won HH, Peloso GM et al. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J Am Coll Cardiol 2016;67:2578-89.

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