Five years ago, the European Atherosclerosis Society (EAS) was a trailblazer in highlighting the underdiagnosis and undertreatment of familial hypercholesterolaemia (FH, inherited high cholesterol) in a Consensus Panel initiative.¹ This was followed by subsequent statements, specifically focusing on homozygous FH,² and importantly, FH in children and adolescents.³ Supported by other international evidence,^4-7 the EAS recognised the worldwide lack of data on the diagnosis and management of FH.

The urgent need for a global registry on FH led to initiation of the EAS FH Studies Collaboration (FHSC) in March 2015, with a ‘call to action’ paper on FH following later that year.⁸ The rationale and design of the FHSC registry was formalised in 2016; this unique registry would provide the opportunity to integrate data from centres worldwide.⁹

Two years on, a contemporary survey from countries involved in the EAS FHSC, published most appropriately on FH Awareness Day, provides important insights.¹⁰ This report provides data on information available, initiatives and management and treatment of FH across 63 member countries in Africa, the Americas, the Eastern Mediterranean, Europe and South-East Asia and the Western Pacific. This new publication has a number of important take home messages for all involved in FH care and policy.

First, there remains a general lack of information on FH prevalence in most countries. While it is generally assumed that about one in 200-300 people in the general population have FH,¹¹ it may not be appropriate to routinely extrapolate this estimate to individual countries. Indeed, as highlighted by this publication from the EAS FHSC, FH prevalence and identification rates can be influenced by factors unique to the country (Table 1). For example, characteristics of the population, general awareness about FH, diagnostic criteria used, and socio-cultural aspects, among other factors, can have an important impact. Many of the countries participating in the FHSC have recognised this issue and have now initiated country- or region-specific registries.

Second, the survey highlights that FH is still very much underdiagnosed. In most of the 63 countries surveyed, clinical diagnosis of FH relies on the Dutch Lipid Clinic Network criteria, followed by Simon Broome and MEDPED. While well validated, these may not be appropriate across all populations and regions highlighting a real need for country-specific-adjusted diagnostic criteria for FH. Yet few countries have addressed this; examples of these include China and Japan, which have published diagnostic criteria specific to their populations.^12-14

Third, the results of the EAS FHSC survey underline that funding remains a major obstacle to the delivery of best FH care. This lack of funding impacts all aspects of FH care, including access to genetic testing and treatment, not only novel therapies such as PCSK9 inhibitors, and lipoprotein apheresis, but also statins and ezetimibe in some countries. Clearly, information from the EAS FHSC will be fundamental to highlighting this deficit and driving forward policy.

Current estimates suggest that one baby is born with FH every minute.³ If FH is identified early, ideally in children, and effective treatment initiated, individuals with FH can live long and healthy lives. These new data from the EAS FHSC highlight priorities for urgent action so as to reduce the global burden of death and disability associated with untreated – or undertreated – FH.

Commenting on the survey findings, Professor Kausik Ray who leads the EAS FHSC with his team at Imperial College London, London, United Kingdom said: ‘The FHSC provides a unique opportunity to improve FH care. These first survey data from the FHSC highlight issues with FH awareness, identification and management worldwide. Critically, the lack of funding and resources is a major obstacle for delivery of best practice. Now the second phase of the FHSC will involve liaising with the National Coordinators of the individual countries to implement treatment strategies according to specific country needs with the ultimate aim of reducing the global burden associated with FH.’

Table 1. Factors that may influence FH prevalence in individual countries

References

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