Familial hypercholesterolemia

Familial hypercholesterolemia is often discovered only after an infarct or a stroke has occurred. (Photo: pixabay.com)

We all know that high cholesterol values are never a good thing. However, many people are not aware that some situations may lead to very high levels of cholesterol already at a young age, consequently increasing the risk of stroke and heart attack. Are you perhaps part of this group?

Prof. Dr. med. André R. Miserez, opinion leader and president of Swiss FH (Swiss Society for familial forms of hypercholesterolemia), and Theodora Varkonyi-Weisz, director of Swiss FH, explain in the following interview what this illness involves, and how patient organisations can help people affected by this illness.

Prof. Miserez, what is hypercholesterolemia, and what are the familial forms associated with it?

Prof. André R. Miserez:  Hypercholesterolemia occurs when the levels of blood cholesterol are too high. A heightened cholesterol level is a risk factor for cardiovascular illnesses such as a heart infarct or a stroke. In some cases, hereditary factors can also be involved, such as for familial hypercholesterolemia. Patients develop very high levels of cholesterol at a very early age as well as atherosclerosis with a heightened risk of cardiovascular illnesses.

What does this mean for the patients involved?

Prof. André R. Miserez: People with familial hypercholesterolemia may suffer from a stroke or a heart attack at an earlier age, typically before 55 years old for men, and before 60 for women. Unfortunately, this illness is often discovered only after an infarct or a stroke has occurred.

And this is where the Swiss FH comes into play?

Prof. André R. Miserez: The Swiss society for familial hypercholesterolemia (Swiss FH) is a non-profit organisation that was established by a group of doctors and patients. Our goal is to be able to detect and treat this illness at an early stage, in order to prevent the occurrence of a heart attack. We would like to offer professional advice to patients and their families as well as implement the latest scientific findings. The Swiss FH represents the interests of the patients, in order for their concerns to be considered seriously by all major players.

How does your engagement look like concretely?

Theodora Varkonyi-Weisz: Our homepage offers information on the illness. At least once a year, we organise patient meetings, during which patients can receive first-hand information and exchange with other patients. These events are always highly appreciated.

We also organise trainings for doctors who work with patients suffering from familial hypercholesterolemia. We are part of a larger international network, and will be organising this year’s meeting of the European patient organisations “European FH Patient Network”, which will be taking place in November. Further, we also offer free check-ups for people who meet the specific criteria for familial hypercholesterolemia.

As regards familial hypercholesterolemia, early detection is paramount. (Photo: pixabay.com)

This shows that such measures are effective?

Prof. André R. Miserez: If the illness is detected and treated at an early stage, the patients can expect to have a totally normal life expectancy. The objective is to prevent heart infarcts to occur between the age of 30 and 60. We also need to consider that between 20 and 30% of these patients do not survive the heart attack. If they are not aware that they belong to this risk group, they have no possibility of doing anything against it, even though there are good medications on the market. This is why early detection is so important. These tests usually take place in specialised institutes.

Is a genetic evaluation absolutely necessary in order to confirm a familial hypercholesterolemia?

Prof. André R. Miserez: No, but such an evaluation has the advantage that, should an evidence of this genetic mutation be demonstrated, other members of the family can be examined, and prevention measures be implemented. This approach is very cost-effective, as about half of first-degree family members are often equally concerned by this illness. This method is known as cascade screening.

Which concrete challenges does the Swiss FH currently need to address?

Prof. André R. Miserez: At the moment, new medications have been approved that have been developed precisely for the treatment of familial hypercholesterolemia. Studies have also demonstrated the positive effect of these active substances on larger patient groups as well, which is why it is sometimes difficult for FH patients to have access to these medications, even though they might need it the most. This is also due to the fact that these medications are currently prescribed only by specialists, such as cardiologists. However, patients normally consult a cardiologist only once they have had a cardiovascular incident, whereas the diagnosis and the treatment aiming at preventing this illness are usually performed by internal specialists.

Theodora Varkonyi-Weisz: This is why a patient organisation such as the Swiss FH is so important. Not only do we provide information for the patients, but we also offer them active support, stand behind them and engage ourselves for them so that their concerns are being taken into consideration from the political side.

Text: Medical Tribune public – 09/2017
Translation: MyH – 09/2017

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