Underdiagnosed, undertreated and underestimated: Experts issue call for action on familial hypercholesterolemia

More people are at risk of familial hypercholesterolemia than previously believed; addressing the problem requires political commitments at all levels.


By Colin Mackay

23 Oct 2015

Health experts have issued a call to action to the European Commission, European Parliament and national governments to act on the threat posed by familial hypercholesterolemia (FH).

At a hearing hosted on behalf of Austrian MEP Karen Kadenbach, the audience heard a number of experts press for urgent action on a number of fronts to deal with the disease.

They called for steps to ensure more early diagnosis through screening and testing. They also wanted to see the development of a Europe-wide repository of data on FH, allowing for greater insights into the disease and a platform to share best practice on prevention, diagnosis and management.


Familial hypercholesterolemia is a genetic condition that causes exceptionally high levels of low-density lipoproteins, a particular fraction of cholesterol.

These lipoproteins are a known cause of atheroma, where fat deposits  build-up in the arteries and lead to coronary heart disease. Individuals with FH can be up to twenty times more likely to suffer heart attacks and strokes than the background population.

In addition, this can happen at much lower ages; heart attacks in the under 20s are not unknown.

Kees Hovingh, head of the Clinical Trial Unit of the department of Vascular Medicine at the AMC, Amsterdam provided the context for the call for action.

He explained that despite dramatically increasing the risk to health, the existence of FH remains relatively unknown. Unfortunately, those with FH often show no symptoms before suffering serious consequences.

Increasing awareness of the disease, and of the hereditary risk, will help identify those with the disease at a point where it is still possible to change the disease trajectory.

That way, they can ‘dodge the bullet’ of serious cardiovascular problems later in life.

A pressing reason for action is the fact that FH is much more prevalent than previously thought. Until recently, it was widely accepted that the condition affected around one in 500 people.

However, Hovingh explained that recent research in Denmark had revealed that a more realistic estimate is actually closer to one in 230 people.

Given that the gene responsible for the disease had been identified, this situation was unacceptable and largely avoidable. Effective screening was feasible, allowing those at risk of the disease to be identified and benefit from early intervention.

In reality, such screening was rare. This was not only unfortunate for patients; it was also a missed opportunity for research.

The data from screening programmes could provide valuable insights into the disease, improving both prevention and treatment.

Alberico Catapano, Professor of Pharmacology at the University of Milan and Director of the Centre for the Study of Atherosclerosis echoed the importance of data collection.

Given the hereditary nature of the disease, he explained that Europe needed a properly funded, properly structured FH patient registry to support research.

While most EU countries already maintained databases, there were issues of compatibility and cost. Although his unit was working on helping ensure standardised data inputs, he pointed out that this was not feasible indefinitely.

This highlighted why any political action should make funding a comprehensive FH disease registry a research priority.

The larger the database, the greater the insights, so it was important that all member states took part. Funding would help alleviate the burden on smaller, less wealthy nations.

Jules Payne, CEO of Heart UK, explained the background to the formation of the European FH Patient Network in March 2015. Encompassing groups in 19 EU countries, its objective was to identify and diagnose all FH patients in Europe.

To give an idea of the scale of the problem, she pointed out that even using the lower ‘one in 500’ figure meant there were around 28,000 children with FH in the UK. Yet only 600 have been identified.

Given that in some countries the detection rate was as low as one per cent, there were huge numbers of children who were undiagnosed but eminently treatable.

The solution, she said was screening. If we can identify the families, we can test the babies early in life, and defuse the ‘ticking time bomb’.

Following this initial screening, diagnosis was simple - a simple blood test to measure cholesterol sufficient.

Although there was not yet a cure for FH, effective treatments are available. Statins are effective, widely available and allowed people the opportunity to live a long, healthy and happy life at a cost that was “as cheap as chips.”

The network would help emerging FH groups to build capacity and provide a single voice lobbying on behalf of FH in Europe.

She reminded policymakers that it was time to move from talk to action. They had designated 24 September as ‘FH Awareness Day’, and invited stakeholders to reconvene on that date in 2016 to review progress.