Early detection of common cholesterol could have huge benefits – EURACTIV.com


Familial hypercholesterolemia (FH), a genetic condition that can cause high cholesterol levels, affects about 1 in 250 people. The earlier it is detected, the better, but pediatric screening for the disease is lacking in many many places in Europe.

“This is the most common genetic condition causing premature atherosclerotic cardiovascular disease and screening for its detection and diagnosis is quite simple,” said Neil Johnsen, executive director of the Global Heart Hub, during of a recent event held at the Czech Senate in Prague.

However, the lack of systematic screening for the disease has meant that approximately 90% of people with FH are unaware that they have the disease, despite the availability of effective treatments.

“It has been recommended worldwide for more than a quarter of a century. Yet in Europe we don’t have a very clear strategy on this,” Johnsen added.

HF is an inherited disease that results in higher cholesterol levels than in the general population. While high cholesterol levels are often associated with an unhealthy lifestyle, HF is not linked to environmental factors.

Rather, the condition is caused by a faulty gene in the DNA, which is passed down between generations.

FH leads to an increased risk of early cardiovascular disease, particularly coronary heart disease (CHD), said patient advocacy group FH Europe.

HF can also have different levels of severity, with the rare form of homozygous familial hypercholesterolemia (HoFH) being the most severe, affecting 1 in 300,000 people.

Countries like Czechia, the Netherlands, Slovenia, Spain, Norway and others already have some form of screening. But to get the best results, pediatric screening is the way to go, Johnsen added, while praising Slovenia in particular.

A handy fruit

With the evidence of effectiveness and treatments already available, coping with HF should be simple.

While more individual countries have yet to focus on pediatric HF screening, the European Commission’s recent Healthier Together initiative, targeting non-communicable diseases (NCDs), also focuses on cardiovascular diseases, opening a window to focus on the HF.

“We have a game-changer here in Europe and awareness among policy makers to tackle cardiovascular health,” said Birgit Beger, CEO of the European Heart Network (EHN).

The new initiative is one thing, but both Beger and Johnson have urged the creation of a European policy plan to tackle heart health, similar to the European plan to fight cancer, announced in 2021 by the European Commission.

“If you want to be serious, you have to deal with cardiovascular health because it’s so important in Europe,” Beger said.

She also mentioned the societal benefits of prevention: “We also talk about economic development – ​​it will allow people to stay in their jobs longer, to live longer, to be more productive, to be there to children and as caregivers. So there are only advantages.

Take action

Given the political interest in cardiovascular health, it is possible to start screening programs, said Heribert Schunkert, a professor at the German Heart Center in Munich.

According to him, what is needed is a paved road to get there.

“So how did we do this in Bavaria? Obviously, we had to convince the government to give us the means to build the logistics. We did this by comparing with cancer medicine,” Schunkert said.

“We’ve heard that politicians have a very strong push to reduce cancer risk, but the risk from cardiovascular disease is even greater,” he added.

To get things done, stakeholders need to lead the way, the professor said. In her experience, it is important to provide adequate information material to parents whose children will benefit from screening.

He also noted that legal issues need to be considered regarding new testing programs, reflecting different laws from country to country on genetic testing practices.

Pediatric screening

Pediatric screening in particular remains a thorny issue since HF is detected early in less than 5% of children worldwide.

In 2021, pediatric screening was recognized as one of the best practices in the EU on non-communicable diseases in a dedicated portal set up by the European Commission’s health service (DG SANTE).

Most of these children are diagnosed with this disease following the so-called “cascade” screening, which means that they are suggested to be tested as parents of people who have been diagnosed with certain inherited diseases.

This means, in practice, that the majority of these children are most often diagnosed following a heart attack or stroke suffered by their parents.

At the event, organized under the auspices of the Czech EU Presidency, Professor Željko Reiner from the Croatian Atherosclerosis Society suggested that adopting pediatric screening could actually generate a “reverse” cascading screening so parents and siblings of children diagnosed with FH will be informed and recommended testing.

The meeting was followed by the signing of the Prague Declaration on Pediatric HF Screening, a call to action for decision makers to recognize the importance of early detection of HF.

Proponents of the declaration call for comprehensive, lifelong programs for the screening, diagnosis and treatment of homozygous HF in every country, as well as specific measures to overcome barriers to the wide adoption of the programs screening.

[Edited by Nathalie Weatherald]


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