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Over 25 years after the World Health Organization (WHO) identified familial hypocholesterolaemia (FH) as a major public health problem, campaigners are calling for action on the inherited metabolic condition that increases the risk of cardiovascular disease (CVD). In September 2022, a meeting of policy makers, patient representatives, and clinical experts held under the auspices of the Czech European Union (EU) Presidency in Prague issued a call to action on paediatric screening for FH.
According to Magdalena Daccord, Chief Executive of FH Europe, the Prague Declaration, which was endorsed by the Czech Government, represents a big step towards a European commitment to introducing paediatric screening for FH. The Declaration, based on scientific evidence, is a political tool and has the potential to end years of suffering for families who are often unaware of the existence of the condition until it is too late. Ms Daccord says: ‘In Europe approximately 2.5 million people, including 0.5 million children, are affected by FH and 90 per cent of those living with the condition are not aware of it. This causes enormous and unnecessary pain to individuals and their families as well as significant cost to health systems and society.’
The issue of FH has been recognized but unresolved for decades, despite robust medical guidelines outlining best practice. This means people who unknowingly have the condition can go through their lives untreated until a serious cardiovascular event takes place, often with tragic consequences.
FH is the most common life-threatening genetic condition in the world affecting around 1 in 300 people. Ms Daccord points out that these figures do not take account of the wider impact on an individual’s family and future family. Of the 2.5 million people in Europe estimated to be affected by FH, only 10% will be identified as such, leaving the remaining 90% unable to manage their condition. The situation is not uniform across the Continent as different health systems have different levels of awareness and commitment to tackling the problem. As a group FH Europe is calling for the introduction of a wide-spread paediatric screening programme—an early blood test for high cholesterol—to identify anyone affected and give them a chance to manage their condition and avoid developing CVD (Figure 1).
L-R Magdalena Daccord, Chief Executive, FH Europe; Kristýna Čillíková, Vice President, Diagnoza FH; Jakub Dvořáček, Deputy Minister, Ministry of Health of Czech Republic.
The Prague Declaration of 2022 is the result of many years of advocacy work starting with the original WHO report which identified FH as a global public health burden and called for the introduction of widespread screening programmes. The report advocated an approach known as ‘MEDPED’—make early diagnosis, prevent early death—which has survived as a concept. Ms Daccord says: ‘Despite the WHO position on FH and a follow up report in 1998, the rate of early screening and diagnosis has not much improved. We have seen many innovations in the last 25 years but what’s the point of having new treatments like PKSC9 inhibitors if they can’t get to people because there’s a lack of appreciation by many clinicians that not all cholesterol is driven by lifestyle factors but might be down to genetics. A lot of clinicians will prescribe statins without trying to understand what drives high cholesterol in the first place and will tell patients that it doesn’t matter what causes the cholesterol as long as the drugs are doing the job. This just perpetuates the problem.’
In 2021, the World Heart Federation issued a global call to action with recommendations about access to treatment, awareness, and family-based care which took up the cause from the WHO report but did not really move things forward. Individual countries such as Slovenia, the Czech Republic and the Netherlands took on the challenge of tackling this silent but ultimately debilitating condition. Although the three countries took slightly different approaches to the issues they all came to the same conclusions. Ms Daccord says ‘The Netherlands found that the prevalence of FH was much higher than anticipated and Slovenia realised that they were able to tackle a large public health issue with early screening and they successfully implemented this for children from the age of five. These three countries are leaders in tackling FH and are passionate and dedicated. Together with them, we have developed a formal screening programme and submitted it to the European Commission Public Health Best Practices Portal, which after a lengthy expert assessment was proven to be viable and effective as a method that could be transferred across European Union member states. Now it is recognized as official best practice and was presented for implementation to the EU Member States in September at a special event organized by the European Commission’. Ms Daccord believes the Prague Declaration with its seven key asks, contains overwhelming evidence and compelling arguments that will demonstrate the case for the introduction of a universal paediatric screening programme (Figure 2).
L-R Dr. Iñaki Gutierrez Ibarluzea, Head Of Knowledge Management and Evaluation, BIOEF, Spain; Birgit Beger, Chief Executive Office, European Heart Network (EHN); Magdalena Daccord, Chief Executive, FH Europe; Jakub Dvořáček, Deputy Minister, Ministry of Health of Czech Republic; Prof. Albert Wiegman, The Netherlands; Prof. Michal Vrablík, Czech Republic.
The Prague Declaration on FH calls for:
Political leadership and commitment to make FH paediatric screening a reality.
Investment and a policy framework for raising awareness of FH amongst medical practitioners and the public, to build trust and responsiveness.
Comprehensive early detection, screening, diagnosis and life course care programmes in every country.
Specific actions to address the barriers to successful large-scale uptake of screening.
Targeted research and development to address knowledge gaps.
Building the capacity of health professionals and empowering patients on how to best support individuals and families with FH.
Commitment to shared learning and monitoring through exchange and comparisons beyond borders in and outside the EU.
The time to act is now, Ms Daccord says, following recent recognition by the European Commission that prevention is better than cure regarding CVD. ‘The COVID-19 pandemic unmasked an “invisible epidemic” which demonstrated how cardiovascular health had been neglected for many years. This prompted the Commission to allocate money to implement preventative measures in the EU which gave us the impetus as an organisation to make the most of this narrow window of opportunity to elevate the issue and the solutions.’
It should also be noted that paediatric screening is not just about children. Identifying a child with inherited high cholesterol will lead to finding one of their parents is affected and at risk of a heart attack as a consequence of silently developing atherosclerosis over their lifetime. It is estimated that as many as 1 in 16 heart attacks are caused by unmanaged FH so it’s about stopping adult human suffering that ruins lives and families, Ms Daccord says. ‘It is about preventing the preventable and stopping heart attacks from happening. It’s immoral and unethical that in the 21st century with all the knowledge, treatment, and funding that we have that we still allow people to develop CVD and die prematurely…including children. The five per cent of children who have been diagnosed will have learned about their condition as the result of some catastrophic cardiac event in their family but universal screening with a simple blood test can pick up those with an inherited risk factor and give everyone the chance to live an event free life. We know if you screen children, you can change the future and reduce the human, financial and societal burden of CVD and we have the tools and therapies to do that.’
Author notes
Conflict of interest: None declared.
