Familial hypercholesterolemia is one of the most common genetic diseases, but it often takes a long time to be detected.
“Nobody would accept that a person with type 1 diabetes is not diagnosed and treated in time, and yet this is what is happening in France for familial hypercholesterolemia. Families of patients, patient associations… We are angry.” Lionel Ribes, president of the National Association of Familial Hypercholesterolemia and Lipoproteins (Anhet), was himself screened at the age of 18 for this hereditary genetic disease which increases the risk of cardiovascular accidents, in particular heart attacks. Young, athletic – he practiced athletics in competition -, without any particular symptoms, he nevertheless had a blood cholesterol level of 4.6 grams, when the normal is below 2 grams… Same observation with his brother, then in his own daughters, with almost 5 grams of total cholesterol at 3 years old.
Familial hypercholesterolemia is characterized by an excess of bad cholesterol (LDL) in the blood from birth, unlike…
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