Often associated with a lack of physical activity or a unbalanced diet, cholesterol, when it is too high, can also have a hereditary origin: we then speak of family hypercholesterolemia. This disease concerns about 1 in 250 people or 300,000 people in France. It triples the risk of cardiovascular disease.
Family hypercholesterolemia, hereditary disease
Cholesterol is mainly produced by the liver (75 %) and also comes from food (25 %). To move in the blood, it requires carriers called lipoproteins. The LDL lipoproteins, which transport most of cholesterol, distribute it to the tissues. Thanks to a recognition mechanism (similar to a key and a lock), LDL and cholesterol can enter cells. However, in people with family hypercholesterolemia, the cell receiver is defective (the lock is blocked). Consequently, the LDL accumulates in the blood and on the walls of the arteries. This process can cause fatty deposits (atheroma plates) which reduce blood flow.
“”Family hypercholesterolemia is a disease characterized by a significant elevation of 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 some clinical signs may appear. “
Signs of the presence of the disease to be monitored
What are the body signs that can sign the presence of family hypercholesterolemia, according to our expert? There are several.
- Xanthomas. “”They are nodules or yellowish plates on the skin or tendons (such as Achilles tendons or hands) “ exhibits Dr Gérald Kierzek;
- Xanthelasmas. “These are yellowish fatty deposits on the eyelids”;
- Cornean arcs. “”These are whitish circles around the iris, which appear above all before 45 years“.
“These symptoms can go unnoticed and require precise medical examination to be detected“He adds.
Family hypercholesterolemia, a pathology that must be detected
According to Dr. Kierzek, screening for family hypercholesterolemia is crucial. “”Recently, associations have requested systematic screening between 2 and 8 years old, but the High Authority for Health currently recommends a “cascade” screening following the identification of a case in the family “ reports our expert.
The diagnosis makes it possible to establish treatment and avoid young cardiovascular complications (such as infarction, stroke …). Indeed, this overload of cholesterol in the body promotes the formation of atheroma plates, capable of obstructing the arteries.
Other measures will also be quickly implemented following screening, adds the doctor. Like in particular:
- Hygieno-dietetic measures from an early age;
- Taking hypolipaning drugs, mainly statins, from 8 years old for the heterozygous form;
- For severe cases, LDL-APHERESE or PCSK9 inhibitors can be envisaged.
“”The therapeutic objective being to reduce LDL-cholesterol by at least 50% to reduce cardiovascular risk“He concludes.
If you present these signs, consult a doctor quickly for a complete lipid assessment. Early detection will make it possible to adopt the necessary drug treatments, often accompanied by food adjustments and rigorous monitoring of the risk factors represented by tobacco, overweight, hypertension and diabetes.