Familial hypercholesterolemia, this serious genetic disease whose diagnosis lags behind

“I was very lucky,” Lionel Ribes thanks his mother who was trying to understand the cause of her own high cholesterol. Consultation with Professor Jean-Luc de Gennes of Pitié-Salpêtrière in Paris: when the doctor sees her, he immediately asks to see her children. Lionel is soon to be an adult, he is sporty and in good health, but his blood tests reveal, as he tells us, a “huge” cholesterol level.

Familial hypercholesterolemia (FH) is diagnosed and treatment begins. Now aged around fifty, Lionel Ribes is president of the National Association of Familial Hypercholesterolemia and Lipoprotein (a) (Anhet.f). He says he is lucky, because in France, the vast majority of patients are not diagnosed, which puts them at serious risk. In fact, this silent disease does not present any particular symptoms until the first: a heart attack. With his association, he campaigns for a universal diagnosis.

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Noël Peretti, pediatrician and professor of nutrition, head of the gastroenterology and hepatology department at Lyon University Hospital, supports this claim and describes this genetic disease which prevents cholesterol from entering the liver cells, which have the function of eliminate it, thus causing its accumulation in the blood and on the walls of the arteries. This phenomenon causes fatty deposits (atheromatous plaques) which lead to reduced blood flow. Without knowing the precise reason, it is the heart arteries which are particularly affected, resulting, in the absence of treatment, in a high risk of heart attack.

Two forms of the disease exist – homozygous or heterozygous – depending on whether both versions of the gene are affected or not. The first is very serious, which can lead to sudden early death in childhood if it is not treated. Fortunately, it is rare (one person affected in 250,000 in France). The heterozygous form is much more common, 1 in 300 people in our country. The latter, if diagnosed young, is treatable. By taking medication, it is possible to maintain a correct cholesterol level, avoid its accumulation on the walls of the arteries and prevent heart attacks which often occur in young adults.

On November 28, the Anhet.f association published a white paper to warn about the lack of diagnosis and to propose early universal screening for familial hypercholesterolemia, which would be “the only solution to save thousands of lives.” This publication highlights the work of health economist Gérard de Pouvourville, who estimates that screening at an early age would save an average of eight years of life for each child screened. The diagnosis could be established relatively easily via a lipid assay based on a blood test taken as part of one of the obligatory medical visits in the child's care pathway.

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The association wishes to go further than the recommendations of the High Authority of Health which until now recommends screening only the members of a family from a patient, diagnosed by chance, most often after a first accident cardiovascular. The white paper is now on the desk of the Minister of Health. It is up to him and Parliament to take up the matter.