Cholesterol is often elevated in the elderly. This is what most often causes coronary heart disease, as well as myocardial infarction. However, there are cases when the concentration of lipids exceeds the norm in very young people, and sometimes even in children. It is possible that this is due to familial hypercholesterolemia. This severe hereditary pathology often leads to severe pathologies of the heart. Such a disease requires immediate treatment and constant use of special drugs.
Inheritance
Family hypercholesterolemia is inherited as an autosomal dominant trait. This means that the disease is transmitted to the child from the father or mother in 50% of cases. If the affected parent has only one abnormal gene, then the first signs of the diseaseare found in a child not immediately, but only in adulthood (about 30-40 years). In this case, doctors say that the person has inherited familial heterozygous hypercholesterolemia from their parents.
A parent can also carry two copies of the defective gene. This type of inheritance is called homozygous. In this case, the disease is much more severe. If a child suffers from familial homozygous hypercholesterolemia, then signs of atherosclerosis appear even in childhood. In adolescence, severe diseases of the heart and blood vessels can be diagnosed. This can only be prevented with the help of drug therapy and constant monitoring of blood cholesterol levels.
The homozygous form of the pathology is observed if the child had both parents sick. In this case, 25% of children inherit two mutated genes at once.
Since familial hypercholesterolemia is inherited in an autosomal dominant manner, the disease occurs with the same frequency in boys and girls. However, in women, the first signs of pathology appear about 10 years later than in men.
As already mentioned, familial hypercholesterolemia is inherited only in half of the cases. That is, approximately 50% of newborns are born he althy even to sick parents. Can they pass the disease on to their children in the future? According to the laws of genetics, this is impossible, because these people did not receive a defective gene. This disease cannot be passed down through generations.
Prevalence
Family hypercholesterolemiais one of the most common genetic diseases. Approximately 1 newborn out of 500 is born with this pathology. When doctors detect a persistent increase in cholesterol in a patient, then in about 5% of cases this deviation is hereditary. Therefore, the collection of anamnesis plays an important role in the diagnosis. It is necessary to find out if the patient's parents suffered from early atherosclerosis, as well as heart and vascular diseases.
Pathogenesis
The LDLR gene is responsible for the processing of cholesterol in the body. Normally, lipids entering the body bind to special receptors and penetrate into tissues. Therefore, their plasma levels are low.
If a person has a mutation in the LDLR gene, then the function of the receptors deteriorates, and their number also decreases. Especially strong deviations from the norm are noted in the homozygous form of pathology. In this case, the receptors may be completely absent.
As a result of dysfunction of receptors, lipids are not absorbed by cells and end up in the blood. This leads to the formation of plaques in the vessels. The blood flow is disturbed, as well as the nutrition of the brain and heart muscle. In advanced cases, ischemia occurs, and then a stroke or heart attack.
Provoking factors
The main cause of familial hereditary hypercholesterolemia is a mutation in the LDLR gene. However, there are additional adverse factors that can provoke an early onset of the disease or lead to an aggravation of symptoms. These include:
- Abuse of fatty foods. Large quantity incominglipids with food with weak receptors significantly worsens the patient's condition.
- Obesity. Obese people often have high blood cholesterol levels.
- Medication taking. Glucocorticoid hormones, blood pressure medications, immunomodulators and immunosuppressants can increase cholesterol levels.
A person suffering from familial hypercholesterolemia needs to watch their weight and nutrition. You also need to be careful when taking medication.
Symptomatics
For a long time, the pathology can be asymptomatic. A person most often learns about the disease only by the results of a blood test for biochemistry. With familial hypercholesterolemia, the level of lipids in the analysis is sharply increased.
A characteristic symptom of the disease is the appearance of cholesterol deposits (xanthomas) on the tendons. They look like bumps on the elbows, knees, buttocks and fingers. This leads to inflammation of the joints and tendons. Such manifestations of pathology in the heterozygous form of the disease occur at the age of 30-35 years.
In homozygous hypercholesterolemia, xanthomas can be detected already in childhood. Cholesterol deposits are found not only in the tendons, but also on the cornea of the eye.
Patients often have a gray line around the iris. It has the shape of a half ring. Doctors call this sign of hypercholesterolemia the "senile arc".
At an early age in humansthere may be pain in the region of the heart. This is a sign of ischemia. Due to blockage of blood vessels with cholesterol plaques, myocardial nutrition worsens.
Headache and dizziness attacks may also occur. Quite often at patients there is a persistent arterial hypertension. Due to pathological changes in the vessels, cerebral circulation is disrupted.
Complications
Family hypercholesterolemia is a serious disease that can be fatal if left untreated. The most dangerous consequences of pathology are myocardial infarction and stroke. Damage to the heart and blood vessels is often noted at a young age. The risk of developing such pathologies depends on the form of the disease, as well as on the age and gender of the person.
When the disease is heterozygous, patients experience the following effects:
- Half of men and 12% of women have heart and brain ischemia before the age of 50.
- By the age of 70, 100% of men and 75% of women with this disease have vascular and heart pathologies.
In the homozygous form of pathology, diseases of the coronary vessels are noted in childhood. This type of hypercholesterolemia is difficult to treat. Even with timely therapy, the risk of a heart attack remains very high.
Diagnosis
The main method for diagnosing familial hypercholesterolemia is a blood test for cholesterol and low-density lipids. Patients have a persistent increase in the amount of fat in the plasma.
Carry out an ECG withstress test. In patients, an unfavorable reaction of the heart muscle to the load and signs of ischemia is determined. The study helps determine the risk of developing a heart attack.
To reveal the hereditary nature of the disease, a genetic blood test is done. This allows you to accurately determine the etiology of hypercholesterolemia. However, such a test is carried out only in specialized laboratories. This is an expensive study, besides this, the analysis is done for a rather long time. Therefore, the treatment of pathology is most often started without waiting for the results of a genetic test.
Treatment of the heterozygous form
With a heterozygous form of the disease, the patient is recommended to reconsider his lifestyle and diet. Prescribe a diet with limited fat intake, but high in fiber. It is forbidden to eat spicy, smoked and fatty foods. It is recommended to eat more vegetables and fruits. It is important for patients to remember that without following a diet, drug treatment will not have any effect.
It is also recommended that patients include the following foods in their diet:
- rice;
- vegetable oil;
- nuts;
- corn.
These meals contain substances that lower cholesterol.
Patients are shown moderate physical activity and an active lifestyle. You must completely stop smoking and drinking alcohol.
However, these measures are not enough for a steady declinecholesterol levels. Therefore, patients are advised to take statins. These drugs help to normalize the concentration of lipids in the blood. In many cases lifelong use of the following drugs is indicated:
- "Simvastatin".
- "Lovastatin".
- "Atorvastatin".
In addition, drugs are prescribed that reduce the formation of cholesterol in the liver, for example, Holistyramine or Clofibrate, as well as Nicotinic acid.
Treatment of the homozygous form
This form of the disease is the most severe and treatable with great difficulty. With homozygous hypercholesterolemia, the patient has to administer high doses of statins. But even such therapy does not always work.
In such cases, the patient is given plasmapheresis. The blood is passed through a special apparatus and purified from lipids. This procedure has to be carried out constantly.
In very severe cases, liver transplantation is indicated. They also perform an operation on the ileum. As a result of such a surgical intervention, the entry of cholesterol into the blood is reduced.
Forecast
Prognosis for heterozygous form of the disease is more favorable than for homozygous. However, without treatment, 100% of men and 75% of women die of a heart attack or stroke around the age of 70.
The homozygous form of hypercholesterolemia has a very serious prognosis. In the absence of therapy, patients can die by the age of 30. Buteven with treatment, there is a very high risk of heart attack.
In recent years, medical scientists have been conducting research into the treatment of this dangerous disease. Protein drugs are being developed for treatment. Gene therapy is also being explored.
Prevention
At present, specific prevention of this disease has not been developed. Modern medicine cannot affect mutated genes. It is possible to detect this disease in an unborn child only with the help of prenatal diagnostic methods.
Every couple planning a pregnancy should be examined and consulted by a geneticist. This is especially necessary in cases where one of the future parents suffers from hypercholesterolemia of unknown etiology.
If a person has high cholesterol at a young age, then you need to undergo a genetic test for hereditary hypercholesterolemia. If the diagnosis is confirmed, it is necessary to take statins for life and follow a diet. This will help prevent an early heart attack or stroke.
