A decade later, in 1985, these researchers were awarded the Nobel Prize. This discovery marked a new era for biology, especially in terms of cellular functions but also their disorders, which lead to atherosclerosis.
“It is important to know that high plasma cholesterol is not only due to our poor diet, but also to the genes we inherit from our parents, which are responsible for both its synthesis and the regulation of its metabolism.”
Biochemical findings and consequences
In familial hypercholesterolemia there are clear biochemical findings (increased levels of total and LDL cholesterol in plasma) and characteristic clinical signs (xanthomas and xanthelasmas). High levels of plasma LDL cholesterol (“bad” cholesterol) are seen even in very young children. LDL cholesterol is called “bad” because its elevated levels damage the wall of the arteries in which they are deposited, causing a hard plaque to form called atherosclerotic plaque.
People with familial hypercholesterolemia have an increased incidence of early cardiovascular disease (myocardial infarction, carotid artery disease, stroke, valvular disease, heart failure or even sudden death).
With regard to familial hypercholesterolemia, it seems that he has not yet realized how dangerous the disease is, since for many years it is silent and its first manifestation is usually the cardiovascular event.
This is the reason why it is necessary to diagnose it early and then to treat it properly – even from childhood – which can prevent the occurrence of future cardiovascular events.
Another reason that makes the need to prevent cardiovascular disease urgent is that their treatment is often painful, costly and often, unfortunately, ineffective. This is because invasive procedures, such as surgery and angioplasty, do not cure the cause, but simply change the course of the disease.
Frequency
Familial hypercholesterolemia is not as rare as it is believed but it is one of the most common genetic diseases and affects 1 in 200-250 people.
To date, more than 2,000 disease-causing gene mutations have been described. If a parent has familial hypercholesterolemia then there is a 50% chance that the child will inherit the disorder.
This form of familial hypercholesterolemia is called heterozygous. If the child is born to parents who have both familial hypercholesterolemia and the child receives the abnormal gene from both parents, then it is a homozygous form of familial hypercholesterolemia. Its incidence is extremely rare (estimated at one person per 600,000 population).
If a person has a family history of cardiovascular disease (eg myocardial infarction) at an early age, then there is a suspicion that this person may be suffering from familial hypercholesterolemia. Also, if a person has had a heart attack before the age of 50-60 they are likely to have very high cholesterol levels. In this case, the lipid levels in the close relatives of the patient should be examined.
Treatment
The key to treating this condition is to diagnose it early and start treatment with instructions for a healthy lifestyle (proper diet, exercise, smoking cessation if it has not already been applied), in combination with medications, where statins have a prominent place. Some patients achieve the desired goal of lowering their lipid values, but others need to receive combination therapy. Still, some people still have high cholesterol levels. In recent years the pharmaceutical industry has created new and promising formulations, some of which are already in circulation and others are in the final phase of their clinical trials. However, there are cases where patients do not achieve the desired lipid values, or are unable to take the medication due to the occurrence of side effects in the specific preparations. These patients can now treat this chronic problem with other treatments. These include extracorporeal lipid clearance as well as gene therapies.
International and domestic special actions for familial hypercholesterolemia
Since 2012, September 24 has been designated as Family Familial Hypercholesterolemia Awareness Day.
In 2013, the “Panhellenic Association of Patients and Friends of Patients with Family Hypercholesterolemia” was established, with the primary purpose of claiming and providing every possible scientific, social, economic and moral support to patients suffering from familial hypercholesterolemia.
Writes:
Mrs. Genoveva Kolovou, Director of Preventive Cardiology at the Metropolitan Hospital
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