Do your blood tests always show a cholesterol above 300 mg / dL? Does your family have a history of heart attacks or angina in young people? The origin of your situation may be due to a disease called genetic familial hypercholesterolemia . We are going to address what it is, what its symptoms are, how it is treated and how it affects the day-to-day of patients.
However, if you feel identified, go to your GP and explain what the symptoms are and, above all, the family history. As we will see, there are many cases of misdiagnosed patients.
What is genetic familial hypercholesterolemia
Familial hypercholesterolemia (FH) is an autosomal dominant hereditary (genetic) disease , that is, it is enough that one of the two parents inherits and passes the gene that causes it to the fetus . It is produced by a mutation in the receptor gene for low-density lipoproteins LDL -cholesterol -the bad cholesterol-. This gene is responsible for removing lipoprotein and cholesterol from the blood, and making it reach the cells for proper functioning.
When this gene is damaged or mutated, these lipoproteins and cholesterol build up in the arteries, blocking blood flow. Despite being a hereditary disease, the fact that a father has the gene does not mean that all children inherit it. In fact, studies on its prevalence indicate that it affects only 50% of the offspring.
Diagnosis, key to preventing familial hypercholesterolemia from becoming a risk
In Spain, the institutions and foundations that deal with it number around 80,000 people who are affected by this genetic disease, although only 30% of the cases are correctly diagnosed .
Its diagnosis, given its nature, is limited only to carrying out a blood test in which it focuses on the analysis of cholesterol and triglyceride levels . And is that one of the symptoms of genetic HF is the presence of LDL cholesterol values above 300 mg / dL, and normal or slightly elevated triglyceride levels .
Of course, family history is key . If a direct, ascending relative, even if he has not been diagnosed with the disease, has suffered cardiac events before the age of 60 , or has serious problems such as heart disease, it could be an indicator of the presence of the defective gene.
Before these warning signs, and even before having the results of the analysis, it is convenient to control lipid levels and lead a healthy life.
Consequences of having genetic familial hypercholesterolemia
The various scientific studies on this genetic mutation show that it is one of the risk enhancers for cardiovascular diseases . In fact, according to the foundation that studies familial hypercholesterolemia, 50% of women not treated against FH and 85% of men will suffer some episode of failure before the age of 65. However, they clarify, it is not directly associated with high blood pressure, obesity or diabetes .
Now, studies show a direct relationship between HF and the presence of tendon xanthomas , a condition that causes the Achilles tendons and the extensors of the knuckles to present a fat knot due to the deposit of cholesterol; or tuberculous xanthomas , on the elbows and buttocks, or xanthelasmas , which are located on the eyelids. All three situations are clear symptoms of genetic HF .
Such is its effect on the patient’s day-to-day life that even the World Health Organization (WHO) has recognized Familial Hypercholesterolemia as one of the genetic disorders that requires a large-scale study, diagnosis and treatment program.
Treatment of HF
In addition to a healthy lifestyle, with careful eating, regular physical activity and discarding bad habits such as drinking alcohol or smoking , there are pharmacological treatments to neutralize increases in cholesterol and triglycerides , and keep them at values considered normal.
Statins are the drugs that have been shown to be most effective in lowering cholesterol, since they act directly on the liver, inhibiting the production of cholesterol in it. Other drugs such as ezetimibe and bile acid sequestrant resins prevent the small intestine from absorbing cholesterol. For their part, fibrates act directly on triglycerides.
Non-pharmacological treatment of HF
A proper diet helps reduce weight, or more specifically, the presence of saturated fat, cholesterol and fluids. This reduction has as a direct consequence a decrease in blood pressure , one of the triggers of cardiovascular problems.
In this dietary treatment of genetic familial hypercholesterolemia , monounsaturated vegetable fats such as olive oil will be prioritized, which prevents atherosclerosis and the risks of thrombus.
Other foods, such as plant sterols , also help lower cholesterol. These are common components in plants such as soybeans, sunflower, corn or olives. They work in the intestine, preventing it from absorbing harmful cholesterol . You can also find them in dairy.
Tobacco and alcohol: this is how they act on your cholesterol levels
Using tobacco causes your heart rate to race and your blood pressure to rise . In people with genetic familial hypercholesterolemia, the risk is multiplied by 4. Quitting tobacco should be one of the first measures of any patient diagnosed with FH who is a smoker.
Alcohol, for its part, causes damage to the liver, heart and brain , since it causes an increase in blood pressure and triglyceride levels in the blood.
HF genetics and sport
For any citizen, cholesterol is harmful. However, in athletes it is more serious since it drastically reduces their capacity for physical work . When an athlete develops a fatty plaque in his arteries, they lose elasticity. This affects both the coronary, cerebral, femoral, iliac and aortic arteries .
The consequences of this narrowing are translated into a reduction in blood flow , which, in turn, leads to episodes of ischemic heart disease, cardiovascular accidents, aneurysms and peripheral vascular diseases . In some cases, even thrombogenetic lesions associated with FH have been recorded.
This type of complication is especially dangerous in athletics (and with greater risk in long and medium distance races), in cycling (50 km road), swimming (200m), or ball games, among others.
Consequences of HF in athletes
Angina pectoris are the first warning signs . In athletes in whom cholesterol has clogged the arteries, leading to loss of blood flow to the heart, severe heart attacks or arrhythmias have been reported . In either situation, recovery is slow, and in many cases, incomplete.
Likewise, it is also common for strokes to occur , since, in the same way that blood does not flow to the heart, neither does it flow to the brain. These types of conditions, if not treated in time, can be fatal.
How to control genetic HF
To date, there is no 100% effective method in the control of genetic familial hypercholesterolemia , something that patient associations and researchers claim. In Europe, the Dutch measurement pattern is followed, which has shown some flaws, so it is not known with certainty whether the HF treatments that we have explained are the ultimate triggers for patient improvement.
