High cholesterol is one of the most common diseases in the world. Closely linked to eating and behavioral habits, the accumulation of cholesterol plaques in the arteries hinders blood flow in the body, influencing the transport of oxygen throughout the body and may be responsible for the death of some tissues.
However, familial hypercholesterolemia escapes the patient’s efforts — the genetic problem is responsible for the high level of lipids and is independent of diet and exercise. The condition is considered rare and affects one in every 250 people in the world’s population.
“It is an aggressive disease, which can lead to an early stroke due to a genetic alteration. It doesn’t matter how much the person has a healthy lifestyle, cholesterol will still be high”, says cardiologist Marcelo Bittencourt, from Hospital DASA, in Brasília.
Diagnostic test
The condition is a dyslipidemia, a group of diseases that involve changes in lipid levels, and can be identified through a laboratory genetic test called a familial dyslipidemia panel. The exam is carried out with medical request from the previous suspicion.
“A young patient with very high LDL, despite having healthy habits, needs to undergo a clinical survey and analysis of the family history to find out if someone had or has cardiovascular events in the family that might indicate hypercholesterolemia”, says Bittencourt.
He emphasizes the importance of early diagnosis so that the consequences are not serious. “It is essential to keep an eye on, for example, the deposit of fat on the eyelids”, he explains.
Is there a cure and prevention?
Because it is a genetic disease, there is no cure, but the patient should start treatment to control lipid levels as soon as the condition is identified. Otherwise, the cardiologist warns of the serious risk of heart attacks even in young people.
“I don’t like to start abruptly with pharmacological remedies, but they are necessary”, says Bittencourt. Although the condition is not caused by lifestyle, the doctor points out that the diagnosed patient must change habits:
- Avoid saturated fats;
- Lose weight;
- Do not smoke;
- Avoid sitting for a long time;
- Increase frequency of physical activity.
“It is a myth that patients with dyslipidemia cannot do heavy exercise. This is the best way to prevent the formation of plaques”, clarifies the doctor.
In specific cases, liver transplantation may benefit some people with heterozygous familial hypercholesterolemia, when the individual has two different alleles of the same disease-causing gene.
There is a 50% chance that a patient with familial hypercholesterolemia will pass on the gene for the condition to their children. However, Bittencourt says that it is possible to select embryos that do not have this mutation and use the artificial insemination technique so that the heir does not have dyslipidemia.
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