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Much-needed FH paediatric screening is within reach

Date

06 Sep 2022

Sections

Health & Consumers

Prague, 6 September: Today, the Senate of the Parliament of the Czech Republic is hosting a European meeting of experts and politicians who want to remove barriers to the introduction of a screening programme for familial hypercholesterolemia (FH) in children in all European Union (EU) countries. 

This screening would prevent the serious and tragic consequences of FH, the most common genetic metabolic disorder in the world. Today's meeting will result in the adoption of the Prague Declaration - a Call to Action primarily for politicians at EU and national levels, including the Czech Republic (CR). 

Entitled FH Paediatric Screening – Moving Prevention From Evidence to Action: Overcoming the Barriers to Implementation, this meeting is organised by the Czech patient association Diagnóza FH, z.s. in cooperation with its European umbrella organisation FH Europe, under the auspices of the Czech EU Presidency, as prevention is one of the objectives of the Czech EU Presidency. The Czech Minister of Health Vlastimil Válek, M.D., and his deputy, Mr. Jakub Dvořáček will address the meeting, alongside renowned experts from WHO, the European Commission and other EU countries. 

The event is also hosted by Roman Kraus, M.D., Chairman of the Senate Committee on Health Care, who will deliver a closing speech - a call to all political colleagues across the EU to implement the Prague Declaration. This patient -led event is also supported by important institutions and societies such as the Czech Society for Atherosclerosis, the Czech Cardiological Society, Masaryk University in Brno, the Institute of Health Information and Statistics, the European Society for Atherosclerosis, the European Society of Cardiology, the World Heart Federation (WHF), the Global Heart Hub and many others (see www.fhscreening2022.eu). 

Magdalena Daccord, FH Europe’s Chief Executive said “We are extremely excited about this critical meeting and very appreciative of the support of our friends in the Czech Republic in making it possible. And it could not be timelier. In three days, FH Europe will be presenting FH Paediatric Screening as a best practice, to Member State 

Representatives in Brussels in a dedicated meeting organised by the European Commission. Our discussions today will solidify our very strong case for screening – and help to create new resources to make it happen. This is part of a wider shift from cardiovascular disease towards cardiovascular health in Europe, and the need to prevent the preventable.”

FH is underdiagnosed and undertreated 

Familial hypercholesterolemia (FH) is the most common inherited metabolic disorder in the world and is a major risk factor for cardiovascular (CV) disease. Approximately 1 in 250 individuals suffer from FH and to give you a better idea, one child is born with FH every day in the Czech Republic. In Europe, more than 500,000 children and 2,000,000 adults are affected by FH, but only 5% of these are identified and only a small proportion of all affected individuals receive life-saving treatment (the situation varies considerably between countries - for example, some countries have a high prevalence of FH in their population). "In those affected who are not treated in time, FH can lead to premature cardiovascular events, i.e. myocardial infarction or stroke. In addition, there is a more severe variant of the disorder, called homozygous FH, which can cause heart disease in childhood. Medical treatment that is started early in life - because FH is not directly affected by diet and exercise - is highly effective in preventing the cardiovascular complications of FH and is cost-effective. Early detection of FH, for example by population screening, is of crucial importance for the prognosis of people in affected families and for the health care system of a given country," said Prof. Michal Vrablík, M.D., Ph.D., President of the Czech Society for Atherosclerosis and physician at the 3rd Internal Medicine Clinic of the 1st Faculty of Medicine of the Charles University in Prague. 

Milestones in the approach to FH 

  • FH was first addressed globally by the WHO (World Health Organization) at its meeting in Geneva in 1998, when a special report was produced. 
  • In 2020, a global effort led by the World Heart Federation culminated in the publication of the Global Call to Action on FH with nine recommendations, including screening and treatment. The Czech Republic has also joined this. 
  • Screening for FH in children has been adopted as an EU best practice in the Public Health Best Practice Portal of the European Commission's Directorate General for Health and Consumer Protection.   

Yet little has changed over the last 20 years in terms of practical improvements for families affected by FH. Most children are only identified because their family member has been previously diagnosed with FH, often as a result of a previous CV event, or because they have died as a result of non-diagnosis of FH. The Czech EU Presidency is now supporting efforts to address this issue in a European context, through the implementation of childhood screening for FH, building on a high-level technical meeting initiated by FH Europe held under the Slovenian Presidency of the EU Council in October 2021. During this meeting a consensus was reached to that universal, cascade and opportunistic paediatric FH screening should be available to all those who need and choose to receive it, across Europe. 

Screening is the way to go, but is not yet systematic 

Although paediatric FH screening is a proven, effective and cost-effective procedure, it is still at best implemented patchily across EU countries. Several barriers prevent widespread screening, ranging from finance and health system constraints to public ignorance or scepticism regarding the evidence on which these programmes are based, to a lack of political leadership to promote screening. In the Czech Republic, for example, only in children with a positive family history (known CV events or premature CV deaths/sudden deaths in the family) are screened for the first time at age 5. "However, because we believe that universal screening in the paediatric population is a more

effective approach, we have launched a pilot project in the Czech Republic to screen newborns - in selected Czech maternity hospitals, cord blood is collected and tested after birth. If a child is found to have FH, it is possible to follow up and also work with the child's parents and other family members who may also have FH but are usually unaware of it. The project, known as CZECH-IN, will be completed at the end of this year and its evaluation will show whether this form of screening is medically and cost-effective enough to be adopted on a widespread level," said Prof. Tomáš Freiberger, M.D., Ph.D., Head of the Genetics Laboratory of the CKTCH Brno and Head of the CZECH-IN pilot project. He added that he considers the Prague meeting and the adoption of the Prague Declaration (see below) as another important step to move the process of implementing FH screening further, with political commitment. Mrs. Zdeňka Cimická, chairwoman of the patient organization Diagnóza FH, which is involved in the organization of the event and the preparation of the Prague Declaration, agrees. "We have invited Czech senators and MPs dedicated to health care, as well as representatives of pediatricians and health insurance companies to this land-mark meeting. We believe that the discussion on the need for universal screening for FH will finally start at home. We have a very clear picture from the professionals and scientists - what we need is political support - this meeting is an important springboard to achieve this. “ 

The Prague Declaration 

The meeting in the Czech Senate will not only address the technical issues that have so far characterized the debate on FH screening but will also examine what obstacles are impeding concrete steps towards its implementation and how these obstacles can be overcome. The meeting will culminate Prague Declaration, which calls for

  • Political leadership and commitment to make paediatric FH screening a reality, 
  • investment and a policy framework to raise awareness of FH among doctors and the public to build trust and acceptance, 
  • comprehensive programmes for early detection, screening, diagnosis and treatment of FH across the life course in every country, 
  • specific measures to promote the widespread use of screening programmes and follow up treatment for FH, 
  • targeted research and development in the field of FH, 
  • capacity building of health professionals and empowerment of patient communities,
  • commitment to knowledge sharing and monitoring through international exchange and benchmarking within and outside the EU.