Health

Family high cholesterol can kill before age 40; see how to prevent

04.12.2015

This article was translated by an automatic translation system, and was therefore not reviewed by people.

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Learn more about familial hypercholesterolemia (FH), which affects one in 200 people and can kill before age 40

The lawyer Ricardo Ayub, now 51, did not like going to the doctor. Maintaining a healthy lifestyle to avoid having to visit the doctor. When he was 21, however, he felt sick while driving and saw it was wise to do a check-up. Blood tests have detected an abnormality: very high cholesterol. Total cholesterol levels were Ayub about 600 mg / dL, while desirable is around 200 mg / dL.

Cholesterol plaque within an artery; men with familial hypercholesterolemia untreated can have a heart attack before age 40

"I tried a cardiologist, but I served in a very precarious at the time [30 years ago]. She was treated with a statin, for three months, plus the recommendation to exercise and maintain a well controlled power, and then make a new blood test, "he says.

Cholesterol levels lowered, but continued outside the goal that let him out of risk.

"My father had high cholesterol, then, my concern was with the heart, as it infarction to age 42," says Ayub. Grandparents also died of heart problems. "They also had high cholesterol."

Changes in cholesterol

Ayub says that, at the time, his father was already being served by the Heart Institute (Incor), in São Paulo, and it was the period when they were starting to do genetic testing to detect familial hypercholesterolemia (FH), or high cholesterol inherited from the parents. "I called my brothers and me for the exam. They had nothing, but I had the cholesterol mutation, "said the lawyer.

Until now, Ricardo makes monitoring to maintain cholesterol levels within the standard. With other types of statins, it ends up taking a true cocktail of drugs daily. "I take six medications, and I can not go a day without taking. If I'm traveling, the first thing I do is take my medications. Today, my total cholesterol is around 190 and the LDL is under control, "he says.

A 200 people

It is estimated that 60% of the population is with cholesterol levels above the recommended, but this may be due to poor diet or sedentary lifestyle. In the case of familial hypercholesterolemia (FH), the cause is genetic, there is a mutation in the genes that cause cholesterol becomes much higher than the normal population. One in 200 people suffers from the problem.

Concern for the children

This mutation can be transmitted to children. And those who inherit the mutations develop higher cholesterol than normal. Some even have cholesterol levels twice higher than that of others. Others reach four. And those who have inherited the gene father and mother, suffering doubly, they even six times normal, at high risk of having heart problems early.

The cardiologist and director of the Lipid Clinic Unit of the Heart Institute in São Paulo, Raul dos Santos explains that HF is not a rare disease and should be treated.

"Because cholesterol to be high since birth, people are already exposed to values that would normally be only in adult life, then, consequently, they are at very high risk for cardiovascular problems still young, because the exposure is very early, "explains Santos.

He says that 25% of men who carry the genetic mutation that increases the cholesterol will have infarcted or have died up to 40 years old. Women, because they are more protected with the hormone estrogen, earn about 10 years longer, infartando around 50 years.

First heart attack is at 13

For those who have inherited the gene that increases the cholesterol father and mother, the situation is even more serious. The average first heart attack is at 13 years old. This problem, however, is rare. It is estimated that there are about 200 such people in Brazil.

High cholesterol has no symptoms

"The big problem is that the HF is asymptomatic, then only is the diagnosis to dose cholesterol. Most patients are diagnosed when a young infarta and there, you dosa cholesterol, see that is too high, suspected of HF and calls the other asymptomatic family to make the diagnosis, "says Lipids director of the Clinic of InCor .

First-degree relatives are diagnosed first. Confirmed high cholesterol in some of them, it can extend to the rest of the family.

Treatment

The cardiologist Maria Cristina Izhar, the Familial Hypercholesterolemia Carriers Association and professor at Unifesp, explained that in the case of people who have HF, the power does not influence much in improving cholesterol.

"It helps, but is not able to bring cholesterol to normal levels," he says.

This does not mean that those who have high cholesterol can quit eating fatty foods around. Maintaining good nutrition helps to not worsen the problem further.

The treatment then is medicated. Currently patients are treated with statins and ezetimibe, in doses recommended by the doctor. There is another drug that can help patients with HF. The application for approval is now being analyzed by the National Health Surveillance Agency (Anvisa) for medicine that reduces about 60% of the cholesterol in addition to statins and ezetimibe.

This remedy, the evolocumab is a monoclonal antibody that inhibits PCSK9 protein, which, when a lot of activity, destroys the receptors responsible for "collecting" bad cholesterol circulating in the blood stream and send away.

This drug must reach a portion of the population of people with familial hypercholesterolemia who can not reach normal cholesterol levels with statins and ezetimibe alone.

The expectation of the pharmaceutical manufacturer, Amgen is that the drug is approved in Brazil by 2017. In the United States and Europe it is approved since the middle of this year.