There is news for people with familial hypercholesterolaemia

Thursday September 24, 2020 it is FH Awareness Day. FH stands for familial hypercholesterolaemia, a hereditary abnormality in which the cholesterol is too high. About 1 in 250 people has familial hypercholesterolaemia. It is the most common hereditary abnormality in the Netherlands. 70,000 people have it, but less than half of them are known. Such a day is therefore important, because it does not concern 1 person, but a large part of a family. But there is also news about this condition. Doctor Ted van Essen explains.

Cholesterol too high

Hypercholesterolaemia means that the cholesterol is too high. This can be due to nutrition, too little exercise or diabetes, for example. With FH, cholesterol is also increased, but this is due to an abnormality in the DNA. It is a hereditary condition in which people have an abnormality in the genes, so that their cholesterol is much higher than in other people. This abnormality prevents the body from properly regulating the amount of cholesterol in the blood. Normally, the liver removes excess cholesterol from the blood. In people with FH, this absorption process in the liver is disrupted, so that too much cholesterol remains in the bloodstream. This is then stored in the wall of the blood vessel, leading to arteriosclerosis.

Initially no physical complaints

High cholesterol does not initially cause any physical complaints, and that is precisely the insidious part of it. Only when the blood vessels close up do problems such as a heart attack, a stroke, or pain in the leg when walking (shop window legs) occur. It is therefore often noticed too late, while much can be prevented if one is there on time. For example, with medicines that inhibit the production of cholesterol in the liver (statins), but also with a healthy lifestyle: no smoking, no obesity, no alcohol and sufficient exercise.

It concerns a large part of the family

“What makes FH extra dangerous is that it is a hereditary disease that affects not only you but possibly also a large part of your family. It is passed from one generation to the next. You get it through your mother or father. If you yourself have FH, there is a 50 percent chance that your brother, sister, or child will have it too. So it is extremely important that people are aware of this condition, get tested when they suspect they are suffering from it and that they also take responsibility towards their families. They must inform them so that they can have themselves tested for FH in time and adjust their lifestyle and medication. ”

Signals and track down relatives

“You have to start thinking about FH when family members die at a young age from a heart attack or when the LDL cholesterol in the blood is very high, above 6. Then genetic testing can show one of approximately 200 DNA abnormalities. If this is known, all you have to do is look for that abnormality among family members. In the past, 30,000 patients have already been identified with a population screening. That stopped a few years ago. As a result, fewer new people with FH are now being detected. And that is a pity, because early detection and treatment virtually eliminates an increased risk. “

Treating it early works

There is also news of familial hypercholesterolaemia. “First of all, research has shown that if the treatment of children is started in good time, the risk of a heart attack becomes completely normal. There are now 30 years of experience with this and it shows that the children are doing well. Their parents with the same abnormality are much worse, because they started treatment later. 7 percent of the parents died and a quarter had a heart attack.

The importance of research has been demonstrated

And then there is other news that has come out and that is that doctors are going to help convince family members of the usefulness of further research. “Previously, patients who were identified (the index) had to inform family members themselves, and that did not work out well. There is a National Center of Expertise for Genetic Research Familial Cardiovascular Diseases (LEEFH) with 27 regional centers that help families identify relatives with that condition. In a number of years, all 5000 families with that abnormality can be traced and treated. ”

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