Catapano: Gene screening helps prevent cardiovascular disease

Robert Cramb

The EAS conference in Glasgow was attended by more than 2,000 delegates. [Henriette Jacobsen]

The EU could do more to provide information to physicians about patients at risk of developing cardiovascular disease, says Alberico Catapano.  

Alberico Catapano is President of the European Atherosclerosis Society (EAS) and Professor of Pharmacology. He spoke with EURACTIV’s Henriette Jacobsen and Evan Lamos, at the annual EAS conference in Glasgow.

Why is the European Atherosclerosis Society’s (EAS) conference in Glasgow important, and how is it different from other health conferences?

The EAS conference is held every year in different cities throughout Europe. The reason why it is important, is because it addresses specific areas of disturbances of metabolisms, and covers a great deal of these diseases. At this conference, there is a blend of clinicians and researchers.

Which diseases are you focusing on?

At this conference, we address the diseases of lipoprotein (molecules made of proteins and fat) and lipid metabolism (the processes that involve the intercourse of lipds), specifically related to atherosclerosis.

One of the examples of these kinds of diseases is familial hypercholesterolaemia (FH). As the name says, it’s a familial disease that has genetic grounds.. You can see this disease throughout different generations.

It’s important, because it confers elevated levels of bad cholesterol. Patients with this disease have a particularly high risk of developing cardiovascular disease, because they are at risk of developing high levels of bad cholesterol. Coronary heart disease comes early.

What are the challenges when it comes to FH?

A few years back, living with FH was a problem due to the lack of drugs. In recent years, we have seen a major effort from large companies to develop drugs that will be able to decrease dangerous cholesterol and will help manage the condition. We have seen a number of these new drugs coming. Several of them are already on the market.

Being an FH patient is a problem, because if you do not detect the condition, you will not realise that even with a slight elevation of the bad cholesterol, your risk of getting a cardiovascular disease is far higher than for someone who just developed high levels of the bad cholesterol a couple of years ago.

Having had higher levels of cholesterol throughout their lives, they now have a risk which is much higher than everybody else. Detecting FH is therefore very important to their health. But detection of their disease is an issue. Physicians are not aware of the disease, and they usually just think that the patient has elevated cholesterol levels. They don’t realise that for this patient, the care needs to be more intensive, because they have been exposed for a long time.

How would you like to see the detection process with the doctor and the families?

The screening is not that difficult, because there is a very simple way to do it. We have a score system which produces our guidelines. We have also produced a consensus paper that reiterates the concept.

The problem is that the detection rate has been quite variable across countries. This is why we are communicating to the European community together with patient organisations, in order to raise that point. There is enormous inequality in the detection of the disease, and this has a consequence for access to the therapy for people throughout Europe.

We believe, together with the European Commission, that this is where the EU can intervene: Promoting a better understanding of the disease, and promoting better screening of the disease.

When you talk about inequalities regarding the prevention and treatment of FH, where do you see the front-runners in Europe?

The Netherlands, because they have had a programme which has been supported by the state to detect FH. There are countries like Italy, my own country, where a minority is detected (to have the disease) because they have never had this kind of programme. In Italy, around 3% are of the potential people are detected.

We also need to bear in mind that the condition Heterozygous FH (when cells contain two different alleles of a gene) is rare. The estimation is that one out of 300,000 is affected nowadays, but with the form that is the most frequent, one out of 200 is affected. So it is the most frequent genetic disease that we know of.

Since it’s related to genes, can you say where the most people affected are? Are there more people affected in The Netherlands?

That tends to be rather equal. We usually see the same number in a population. Around one in 250 is affected throughout the world. Yet, the kind of mutation you can have may be clustering in certain countries, because of the history of the country.

When talking about cardiovascular disease, there has been a lot of focus on what people could do for themselves, such as exercising, having a better diet and so on. Do we need to now also have more focus on genes?

There is always an impact from different things; lifestyle and diet. They are also important issues for patients with FH, although the effect is limited in those patients. But there are other components than lifestyle and diet that are important.

There is always an interaction between genes and the environment. This is also the case for FH patients. They tend to overeat and exercise less because their plasma lipids (compounds of fats and fat-like substances) will go higher.

What would you like to see at EU level, in relation to FH?

I think we need a multi-stakeholder approach, as always. I’d like to see an approach from the EU, urging member states to provide information to physicians so that they are able to detect the disease. At the same time, we need campaigns to inform people that there may be a genetic disease in their family. We have ways to treat it, but we do need to recognise it.

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