Doctors recommend that LDL always be kept below 130 milligrams per deciliter (mg/dl) of blood. But some people have levels that exceed 800 or 1000 mg/dl, and no diet or exercise will lower those numbers. These are people with familial hypercholesterolemia ( better known by the acronym HF), a genetic disease that is more common than imagined. According to the HF Foundation, in the United States, one in every 200 to 500 people in the world suffers from this inherited disorder.
For comparison, other more well-known genetic diseases, such as Down syndrome and hemophilia, affect one in every 1,000 or 5,000 people, respectively. The FH Foundation explains that people with this condition have a “20 times higher risk of heart disease than the general population. High cholesterol for a prolonged period of time can anticipate conditions such as angina, heart attack, and even death by 10 or 15 years cardiologist Raúl Santos, president of the International Atherosclerosis Society of Brazil, explained to BBC News Brazil. Unfortunately, we detect less than 1% of patients with FH in Brazil. The vast majority do not even know they have this disease,” says Santos, who monitors about 1,500 people with this problem in his laboratory at the Instituto del Corazón (InCor), in Sao Paulo.
Their observations coincide with the estimates of the FH Foundation, which calculates that ” about 90% of the people affected do not know they have it. The good news is that once a diagnosis is made, the correct treatment helps lower cholesterol and greatly minimizes the risk of a heart attack. Bad cholesterol LDL is a molecule responsible for transporting cholesterol produced in the liver through the blood and carrying it to different parts of the body. Contrary to what many people think, cholesterol is essential for life. It guarantees the integrity of the membrane of our cells and allows the brain to function properly, among many other functions.
The problem is the quantity: excess LDL cholesterol in the circulation damages the walls of the blood vessels, leading to thrombi and clots. These formations, in turn, grow until they become clogged. Blocking the flow of blood is the trigger for heart attack or stroke, among other pathologies. In people with HF, whose cholesterol is well above average, this potentially fatal process occurs more frequently and in advance. In the general population, heart problems usually appear in the 50s in men and 65 in women. In this specific group, we see severe cases in the third or fourth decade of life, sometimes even earlier, ” says Santos. The medical literature presents cases of patients with FH who suffered a heart attack at 12 years of age.
There are reports of fetuses having cardiovascular arrest while still in the mother’s womb, during pregnancy. Detection. These events, fortunately, are quite rare. They occur in the homozygous form of the disease when the individual inherits faulty genes from the mother and father. This type of HF only appears in one in a million people. The heterozygous form, in which the mutated genes come only from the maternal or paternal side, is much more common among the population. When we detect a case, we test all close relatives. For every two family members analyzed, one has FH explains Santos. But, how is it possible to know if one has high cholesterol from this genetic disease?
According to cardiologist Mara Cristina Izar a professor at the Federal University of São Paulo, if blood tests show LDL cholesterol above 190 mg/dl “they already justify a more in-depth investigation on HF.”Doctors rule out other diseases related to increased cholesterol, look for more symptoms of the condition (such as changes to the skin and eyes), and may even order a genetic test that looks for the presence of DNA changes related to the problem.
We recommend that all children whose parents or grandparents have a history of cardiovascular disease have their cholesterol measured between the ages of 2 and 10,” says Izar, who, along with other colleagues from the Brazilian Society of Cardiology, published a document over the HF at the end of 2020. Above the age of 10, they recommend that everyone undergo such a test, regardless of family risk factors.CounterattackBut does having a diagnosis of HF change the treatment to lower LDL? In general, the treatments that are prescribed are similar. But in these more serious situations, a much higher dose is often used.
The drug used is usually a statin, which is very safe. If these pills don’t work, cardiologists add a second drug to the pharmaceutical regimen: ezetimibe, the price of which is usually affordable. Now, if even those two drugs don’t work, it remains to appeal to PCSK9 inhibitors, a novel injectable drug whose price is usually much higher. Doctors often adopt special and individualized treatment regimens for children and pregnant women.
At the same time, changes in diet and physical activity are essential to ensure good results in all patients with FH. It’s important to note that high cholesterol is most often caused by lifestyle problems rather than faulty genes. A sedentary lifestyle and an unbalanced diet are decisive elements that lead to uncontrolled levels of these molecules. What to eat to lower bad cholesterol along with other factors, such as obesity, diabetes, and hypertension, excess LDL contributes to a series of debilitating and potentially fatal events, such as heart attack and stroke. And, for many available remedies, healthy life is still the main recommendation to avoid these problems.