In January 2020 the Global FH Community published a Call to Action on Familial Hypercholesterolaemia (FH), highlighting gaps in screening and guideline-based care for FH, the most common inherited metabolic disorder (1). The report was authored by a panel of scientific experts, public health officials, advocacy leaders and individuals with FH from 40 countries. Despite accumulating data, new treatments and impetus for early identification and treatment, FH is still widely underdiagnosed and undertreated. Thus, while the consequences of FH are potentially preventable, effective initiatives and policy change is needed to address the burden of disease. The nine key recommendations made in the Call to Action as highlighted by Katherine Wilemon (FH Foundation, USA) were:
- Improved awareness
- Improved screening, testing, and diagnosis
- Improved treatment, including specialist care for patients with severe FH and homozygous FH
- Family-based care
- Cost and value.
The latest insights from the EAS-led FH Studies Collaboration (FHSC) provide important insights into global FH care, with more than 64,000 patients, including more than 11,000 children, enrolled by 64 countries covering all continents. As discussed by EAS President Professor Kausik Ray, it is evident that patients are identified too late, on average aged 47 years, when there is already established atherosclerotic cardiovascular disease. For patients with homozygous FH, most are detected aged 12-14 years, which is again too late. A report from the HoFH International Clinical Collaboration (HICC) registry at EAS Congress Helsinki highlighted disparities in the management of homozygous FH between high-income countries and other regions in terms of access to treatment which detrimentally impacted survival (2).
This roundtable discussion chaired by Professor Fausto Pinto, World Heart Federation (WHF) President 2021-2022, and Past-EAS President Professor Lale Tokgözoğlu focused on next steps after the recent Global Call to Action on FH (1). Speakers included Dr. Urh Groselj (Slovenia) Magdalena Daccord (FH Europe, Switzerland), Professor Samuel Gidding (USA) Dr. Jean-Luc Eiselé (WHF, Switzerland) Katherine Wilemon, Jasmine Patel (MPH, USA), and Professor Mariko Harada-Sheba (Japan). The roundtable coincided with the publication of a new WHF Position Paper “Improving Prevention and Control of Raised Cholesterol – A Call to Action”. This explains the scope of the problem and presents a road map with recommendations to improve cholesterol awareness, monitoring and treatment (3).
The goal of this roundtable was to discuss priorities for next steps for action on FH. While it was agreed that underdiagnosis and undertreatment remain major issues, some new initiatives offer promise.
- Jean-Luc Eiselé (WFH) described the WHF Cholesterol Roadmap (available at: https://world-heart-federation.org/resource/whf-cholesterol-roadmap/) which identifies barriers and challenges to cholesterol management in practice. Importantly, the Roadmap proposes practical solutions to these barriers, including point-of-care testing, provision of free or subsidized lipid-lowering medication, and treatment adherence support using text message reminders.
- Magdalena Daccord (FH Europe) highlighted activity with the European Commission to mandate for paediatric screening for FH, as discussed here.
- Urh Groselj discussed results of a screening survey of over 100 contacts and concluded that leverage for screening should adopt a pragmatic approach based on what is already available to improve diagnosis.
- Mariko Harada-Sheba commented that while underdiagnosis remains problematic in Japan, some prefectures are already screening children for cholesterol. New regulations for prevention of cardiovascular disease will include screening for primary hypercholesterolaemia (and by definition, FH).
The speakers identified gaps in research, highlighting implementation science, family-based-care and prevention as a concept. According to Samuel Gidding, while clinical trials fulfil regulatory requirements for new treatments, trials are also needed to provide information on how best to use treatments to improve practice, such as testing upfront combination therapy, as well as allowing for patient choice to improve adherence. Other gaps warranting urgent action were treatment affordability, pragmatic testing approaches, and the value of prevention, particularly in children.
The panel identified several key areas to target for change. These include:
- Alignment of messaging about FH across all stakeholders
- Dissemination of information from guidelines in an understandable form
- Education: to raise awareness, and address misinformation, stigma and cultural differences (for example, across Europe)
- Identification of ‘FH Champions’ from among policy makers to drive change
- Involvement of patient advocates
- A crucial role for advocacy, especially for screening in children, and access to treatments and genetic testing
The panel concluded that key next steps include targeting 1) education to improve awareness across stakeholders in FH, 2) alignment between the different stakeholders, and critically, 3) implementation strategies. In his conclusions, Professor Pinto also highlighted World Heart Day on 29th September 2021, organized by the World Heart Federation, where high cholesterol would be one of the topics highlighted to raise awareness.
Magdalena Daccord, Chief Executive FH Europe discusses why being ‘at’ EAS Helsinki 2021 is important for patient organisations
- Representatives of the Global Familial Hypercholesterolemia Community. Reducing the clinical and public health burden of familial hypercholesterolemia. A global call to action. JAMA Cardiol 2020;5:217-29.
- Tromp TR, Hartgers ML, Hovingh GK, et al. Worldwide perspective on homozygous familial hypercholesterolemia diagnosis, treatment and outcome – Results from the HICC Registry. Poster session. Presented at EAS Helsinki 2021 Virtual – 30th May -2 June 2021
- WHF White Paper. Improving prevention and control of cholesterol. Available at https://world-heart-federation.org/resource/whf-cholesterol-white-paper/