Hypercholesterolemia Familial

Hypercholesterolemia Familial: Understanding and Managing High Cholesterol

Introduction:

Familial hypercholesterolemia, also known as familial idiopathic hypercholesterolemia or familial essential hypercholesterolemia, is a genetic disorder of lipid metabolism that results in elevated blood cholesterol levels. This condition is one of the most common inherited forms of hyperlipidemia and is a risk factor for the development of cardiovascular diseases such as atherosclerosis and coronary heart disease. In this article we will look at the causes, symptoms and management options for familial hypercholesterolemia.

Causes of familial hypercholesterolemia:

Familial hypercholesterolemia is caused by impaired lipid metabolism associated with hereditary mutations. One of the most common mutations is associated with LDL (low-density lipoprotein) receptors, which play a key role in the reverse transport of cholesterol from the blood to the liver. Disruption of the function of these receptors leads to the accumulation of LDL cholesterol in the blood and an increase in its level.

Symptoms of familial hypercholesterolemia:

One of the characteristic signs of familial hypercholesterolemia is elevated blood cholesterol levels, especially LDL cholesterol levels. However, most people with this disorder have no noticeable symptoms. This condition often goes undetected until cardiovascular complications such as angina or myocardial infarction occur.

Management of familial hypercholesterolemia:

Management of familial hypercholesterolemia includes both non-drug and drug methods. An important aspect of control is lifestyle changes, as diet and physical activity can significantly affect cholesterol levels. It is recommended to consume a diet rich in vegetables, fruits, and fish high in Omega-3 fatty acids, as well as limiting the consumption of saturated fats and trans fats.

In cases where non-drug methods do not provide sufficient control of cholesterol levels, drug treatment may be prescribed. The most commonly used drugs are statins, which reduce cholesterol synthesis in the liver, and other drugs, such as bile acid absorption inhibitors or drugs that increase cholesterol excretion.

In addition, it is important to regularly monitor your blood cholesterol levels through tests and visit your doctor to assess your overall health and risk of developing cardiovascular disease.

Conclusion:

Familial hypercholesterolemia is an inherited disorder of lipid metabolism that leads to elevated blood cholesterol levels. This condition is a risk factor for cardiovascular disease and requires management to reduce the risk of complications. Non-drug methods such as lifestyle changes, including a healthy diet and physical activity, play an important role in controlling cholesterol levels. In some cases, drug treatment may be required, which is prescribed by a doctor depending on the individual characteristics of the patient.

It is important to remember that familial hypercholesterolemia is a chronic condition, and regular monitoring and following your doctor's recommendations will help control cholesterol levels and reduce the risk of cardiovascular complications.

Familial hypercholestrinemia should be considered one of the most difficult problems in the modern endocrinological arsenal. This disease presupposes the presence of a number of biochemical and morphological changes in the human body that provoke a disease of lipoprotein metabolism due to a long-term increase in the level of cholesterol in the blood. Based on the fact that the main substrate for the synthesis of cholesterol in our body is the liver, if we have diabetes, the functioning of this organ is impaired. As a result, the level of cholesterol in the blood increases and hyperlipidemia develops. Due to disruption of cholesterol synthesis processes, the body is not able to carry out the process of atherogenic transformation of the endogenous lipoprotein complex and, as a result, the vascular wall is exposed to disease. Thus, the formation of atherosclerotic plaques occurs, leading to coronary heart disease and other diseases of atherosclerosis and arteries. There is a distinction between hypolipoperfective hypercholesteremia, which is hereditary, when the risk of developing the disease is high, and hyperlipoperrecurrent hypercholesteremia, which is associated with human aging and the presence of diseases of the digestive system. This problem has a fairly large social significance, which is primarily due to the rapid increase in the number of people whose age exceeds 40 years, which is directly related to the development of atherosclerosis. Also relevant is the emergence of young patients with an increased content of harmful hostierin with a high body mass index and smoking.

What is hypercholesterolia? It should be understood that this pathology cannot be detected due to the receipt of one-time test results. To reliably determine the cholesterol content in blood serum, it is necessary to take 2 test tubes on the 3-4th day of the menstrual cycle on an empty stomach when the stearin level is as low as possible. Interpretation of the results of a cholesterol test is a comprehensive urine test in combination with generally accepted auxiliary laboratory methods to obtain an accurate result, consultation with a specialist is necessary. In addition to studying the amount of cholesterol, it is necessary to compare the results obtained with reference values ​​for the corresponding age category.

How to recognize hypercholesterolemia? This disease is detected due to the progression of cholesterol deposits in the vessels of the neck and arms, the earlier appearance of cracks in the vascular wall due to mechanical damage to the vessels by atherosclerotic plaques, which leads to pain. Quite often, their symptomatic manifestations are observed in the form of inflammatory changes and increased permeability