Familial hypercholesterolaemia screening

What is familial hypercholesterolaemia?

Familial hypercholesterolaemia is one of the most common hereditary diseases. It affects around 1 in 300 people. It is a condition that results in too high a blood cholesterol level, specifically LDL (Low-Density Lipoprotein) or 'bad' cholesterol.

Why is it important to have my child screened?

To prevent cardiovascular and cerebrovascular diseases.

Exposure to abnormally high levels of LDL cholesterol is not good for your health. It causes damage to the blood vessels: cholesterol accumulates on the walls of the blood vessels, causing them to narrow.

People with familial hypercholesterolaemia are at greater risk of developing cardiovascular diseases such as myocardial infarction or stroke at a young age (between 20 and 40 years old). Currently, only 10% of those affected have been diagnosed and treated.

How can I access screening?

The Health Department is working with the KannerKlinik to organise screening for familial hypercholesterolaemia in children aged 18 months.

This screening is offered free of charge to all children aged 18 months. Families residing in Luxembourg will receive a personalised letter inviting them to make an appointment at one of the Medical Centres (initially in Strassen or Esch-Belval, then in Ettelbruck in 2026). Families not residing in Luxembourg may also participate in the screening but must apply via MyGuichet.

The appointment must be made via MyGuichet within four months of receiving the invitation, giving parents the opportunity to discuss the results (before and/or after the screening) with their child's paediatrician during the sixth medical examination recommended between 21 and 24 months of age.

The national screening programme for familial hypercholesterolaemia covers children aged 18 months, whether they are invited for screening (for residents) or their parents have requested it (for non-residents). Parents have four months to make an appointment and have the screening carried out at one of the medical centres. Once this period has elapsed, families can still ask their doctor to prescribe a lipid profile test.

Outside of the national screening programme, parents of other children (aged over 2) can also ask their doctor to prescribe a lipid profile test.

How is screening carried out?

The diagnosis of familial hypercholesterolaemia is carried out in two stages:

  • Firstly, by measuring the total cholesterol and LDL cholesterol levels in the blood. This is done by analysing a few drops of blood taken from a superficial prick on the finger (similar to the test used to check blood sugar levels in people with diabetes, which is not very painful for children). To prevent the child from feeling pain, healthcare professionals may use various techniques (e.g. distraction, games, etc.).
  • Secondly, if the cholesterol level is too high, a referral to the reference centre in Luxembourg will be offered, where further investigations will be carried out.

The diagnosis of familial hypercholesterolaemia will be made on the basis of the cholesterol test results, family history and the results of genetic analysis.

When and how will you receive the results?

Your child's blood sample will be analysed on site, just a few minutes after it has been taken. You will be informed of the results immediately by the healthcare staff and, depending on the screening results, you will be offered a referral.

The national screening programme for familial hypercholesterolaemia covers children aged 18 months, whether they are invited for screening (for residents) or their parents have requested it (for non-residents). Parents have four months to make an appointment and have the screening carried out at one of the medical centres. Once this period has elapsed, families can still ask their doctor to prescribe a lipid profile test.

Outside of the national screening programme, parents of other children (aged over 2) can also ask their doctor to prescribe a lipid profile test.

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