Genetic cholesterol (familial hypercholesterolemia): what it is, causes and treatment

There are many causes that can influence that we have blood levels of high cholesterol, so that when this happens and we are not diagnosed in time, or stays high over time, it can become a serious health problem, especially when it is not treated and diminished.

The truth is that a simple option to know our cholesterol levels in blood is to perform a blood test. In fact, the routine blood test that we usually do includes basic levels of cholesterol (LDL cholesterol, HDL cholesterol and total cholesterol). Therefore, it is advisable to perform a basic blood test every year.

And what are the causes of having high cholesterol? In most cases it is mainly due to following an unbalanced and unhealthy diet, based above all on the consumption of foods with a high fat content. A good example are junk or garbage meals, as well as pastries, sweets and cookies, salty snacks and processed products ...

But there is a type of cholesterol that can be inherited from parents to children, and that a genetic test manages to diagnose successfully: the so-called familial hypercholesterolemia (or the relationship between cholesterol and genes).

What is genetic cholesterol or familial hypercholesterolemia?

From a blood sample it is possible to know if a person suffers from a genetic mutation responsible for very high cholesterol levels, which can cause infarcts or thrombosis at very young ages.

It is something that is known as familial hypercholesterolemia, and that comes to consist of genes impact on levels of cholesterol very high.

It is characterized mainly by an increase in LDL cholesterol due to a genetic disorder that carries a high risk of suffering a cardiovascular accident. Regardless of sex, the affected person transmits the aforementioned hypercholesterolemia to 50% of their offspring.

At this point, the experts consider that two large groups of variants are recognized, since two genes are needed (one inherited from the mother and another from the father) to maintain normal levels of LDL cholesterol.

But when a normal gene and a defective gene are inherited, a heterozygous hypercholesterolemia occurs which causes cholesterol levels to increase twice as much as normal.

But if the two defective genes are inherited, homozygous appears, the most serious variant, which although less frequent causes cholesterol levels to increase 4-5 times higher than normal.

As a general rule, cardiovascular disease manifests itself in more than half of those affected before age 55, with mortality from these pathologies a hundred times greater in patients aged 20 to 39 years.

Does genetic cholesterol produce symptoms?

As it happens when we have high levels of fats in the blood for our lifestyle (and diet), in the case of genetic cholesterol, there are no symptoms, unless the accumulation of the plaques in the arteries is so high and marked that it causes signs, most of the time late.

However, when there is a vascular disease as a result of having high levels of cholesterol in the blood, it is possible that there are some symptoms, such as the following:

  • Headache.
  • Chest pain.
  • Numbness and swelling in arms and legs.
  • Blurry vision.
  • Loss of balance
  • Dizziness and feeling of agitation every time we move.

On the other hand, When it is already late, a heart attack or heart attack may arise, due to the constriction of the arteries.

Treatment of familial hypercholesterolemia

People with this type of disorder need to take drugs continuously throughout their lives, except during the periods of pregnancy and lactation.

Mainly the medicines have to do with statins, bile acid sequestrant resins and fibrates or fibric acid derivatives.

In any case, even being under medical treatment you must maintain a healthy and healthy lifestyle, maintaining an adequate body weight, eating healthy and practicing exercise.

Also, do not forget that the sterols to lower high cholesterol They can help positively. This article is published for informational purposes only. It can not and should not replace the consultation with a Physician. We advise you to consult your Trusted Doctor. ThemesCholesterol

Familial Hypercholesterolemia: Defining, Screening, Treating (October 2022)