Often associated with a lack of physical activity or an unbalanced diet, cholesterol, when it is too high, can also have a hereditary origin: we then speak of familial hypercholesterolemia. This disease affects approximately 1 in 250 people, or 300,000 people in France. It triples the risk of cardiovascular diseases.
Familial hypercholesterolemia, a hereditary disease
Cholesterol is mainly produced by the liver (75%) and also comes from food (25%). To move through the blood, it requires transporters called lipoproteins. LDL lipoproteins, which transport the majority of cholesterol, distribute it to tissues. Through a recognition mechanism (similar to a key and lock), LDL and cholesterol can enter cells. However, in people with familial hypercholesterolemia, the cell receptor is defective (the lock is blocked). As a result, LDL builds up in the blood and on artery walls. This process can cause fatty deposits (atheromatous plaques) which reduce blood flow.
“Familial hypercholesterolemia is a disease characterized by a significant increase in the level of LDL cholesterol (or “bad” cholesterol) in the blood from birth. It is caused by genetic mutations.” first defines Dr Gérald Kierzek, emergency doctor and medical director of True Medical. “It is often silent, but certain clinical signs may appear.
Signs of the presence of the disease to watch out for
What are the bodily signs that can indicate the presence of familial hypercholesterolemia, according to our expert? There are several.
- Xanthomas. “These are yellowish nodules or patches on the skin or tendons (such as the Achilles tendons or hands).” exposes Dr Gérald Kierzek;
- Xanthelasmas. “These are yellowish fatty deposits on the eyelids”;
- Corneal arcs. “These are whitish circles around the iris, which mainly appear before the age of 45“.
“These symptoms may go unnoticed and require a precise medical examination to be detected” he adds.
Familial hypercholesterolemia, a pathology that must be screened for
According to Dr. Kierzek, screening for familial hypercholesterolemia is crucial. “Recently, associations have requested systematic screening between 2 and 8 years of age, but the High Authority of Health currently recommends “cascade” screening following the identification of a case in the family. reports our expert.
The diagnosis makes it possible to initiate treatment and avoid early cardiovascular complications (such as heart attacks, strokes, etc.). In fact, this excess cholesterol in the body promotes the formation of atherosclerotic plaques, capable of obstructing the arteries.
Other measures will also be quickly put in place following the screening, adds the doctor. As in particular:
- Hygiene-dietary measures from a very young age;
- Taking lipid-lowering medications, mainly statins, from the age of 8 for the heterozygous form;
- For severe cases, LDL apheresis or PCSK9 inhibitors may be considered.
“The therapeutic objective is to reduce LDL cholesterol by at least 50% to reduce cardiovascular risk.” he concludes.
If you experience these signs, see a doctor promptly for a complete lipid panel. Early detection will make it possible to adopt the necessary drug treatments, often accompanied by dietary adjustments and rigorous monitoring of risk factors such as tobacco, being overweight, hypertension and diabetes.