advocacy for systematic early detection

by time news

2023-12-06 07:00:03
The Mona Lisa, by Leonardo da Vinci (1452-1519), presents in the inner corner of her left eye a “xanthelasma”, a discreet deposit of lipids, a probable sign of excess cholesterol in the blood – perhaps familial hypercholesterolemia , especially since another fatty deposit, or “xanthoma”, is visible on his right hand. MICHEL URTADO /LOUVRE MUSEUM /RMN-GRAND PALAIS

These are silent and little-known diseases, sneaky diseases, which can kill, often at a young age, when they are neither detected nor treated. Familial hypercholesterolemia, that’s their name, is “a blind spot in the field of public health prevention in France”, warn the authors of a White Paper on the subject, just published. A plea with the eloquent subtitle, “screening to save thousands of lives”, delivered on November 22 to the Minister of Health, Aurélien Rousseau.

As their name suggests, these hereditary diseases result in an excess of “bad cholesterol” in the blood – a level of more than 1.6 grams per liter, while the norm is around 1 gram per liter; and this, from birth. Normally, this cholesterol forms particles of « LDL cholesterol,” low-density lipoproteins, which circulate in the blood to distribute it to cells. But, if it is in excess, it is deposited on the wall of the arteries and promotes the formation of atherosclerotic plaques. Result, an increased risk of obstruction by a blood clot. “Patients have a thirteen times higher risk of heart artery disease than the general population”, summarizes Eric Bruckert, professor emeritus of endocrinology and cardiology. Hence their increased risk of cardiovascular accident and death at an early age.

The disease is so invisible, however, that families and doctors are often in denial. “Since I was little, I have heard about cholesterol. My uncles, my aunts, everyone had them, we almost laughed about them”, testifies Véronique Lemaître. At the age of 20, she discovered her own high cholesterol and began treatment with a cholesterol-lowering drug, a statin. She marries, becomes mother of three children healthy. At the ages of 8, 10 and 12, the pediatrician diagnosed the disease in the two eldest children, who were put on statins and followed diet workshops. “Eating at home has changed; animal fats, cold meats, fries have disappeared”, says Ms. Lemaître. But preteens quickly abandon their treatment. One of their uncles, however, suffered a heart attack at age 40. The affected son is put back on statins, but he begins medical studies, starts smoking, and neglects his treatment. At the age of 20, one morning, he suffered a brief illness and died the same evening of a massive heart attack. “Losing a child this way is unacceptable”said in a breath Véronique Lemaître, who co-founded, ten years ago, the National Association of Familial Hypercholesterolemia (Anhet), at the initiative of the White Paper.

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