Hypercholesterolemia Family Essential

Familial essential hypercholesterolemia: understanding and treatment

Familial essential hypercholesterolemia (FHH) is a genetic disorder characterized by elevated levels of cholesterol in the blood. It is an inherited disease that can lead to serious health problems, including cardiovascular disease. In this article, we will review the basic aspects of HSE, including its causes, symptoms, and treatments.

The causes of familial essential hypercholesterolemia are due to the presence of mutations in the genes responsible for cholesterol metabolism. One of the most well-known mutations is related to the low-density lipoprotein (LDL) receptor in the body. This receptor is responsible for removing excess LDL cholesterol from the blood. When the receptor is mutated, LDL does not function properly, causing it to be insufficiently removed and accumulate in the blood.

Blood cholesterol level is the main indicator of HSE. High levels of cholesterol, especially LDL cholesterol, can lead to the formation of atherosclerotic plaques in the arteries, which increases the risk of cardiovascular disease, including heart attack and stroke.

Symptoms of HSE can vary, but often do not cause obvious clinical manifestations. However, some patients may experience xanthomas, yellowish deposits of cholesterol in various tissues, including tendons and skin. More serious manifestations of HSE may include hypertension, coronary artery disease, and fatal cardiovascular complications.

Treatment of HSE is aimed at lowering blood cholesterol levels and reducing the risk of cardiovascular complications. Treatment is based on lifestyle changes, including a healthy diet, physical activity and smoking cessation. However, in some cases, medications such as statins, which effectively lower cholesterol, may be necessary.

In addition to treatment, it is important to carry out regular monitoring of blood cholesterol levels and examinations to identify possible complications. Early detection and effective management of HSE play an important role in preventing serious health consequences.

In conclusion, familial essential hypercholesterolemia is an inherited disorder characterized by elevated blood cholesterol levels. It is associated with genetic mutations that impair the processing and removal of LDL cholesterol from the body. High cholesterol levels can increase the risk of heart disease, so early detection and effective treatment of HSE are important measures to maintain health.

Article on the topic: "Hypercholesterolemia familial essential"

Hypercholesterol essential familial hypertension is a chronic progressive hereditary increase in serum cholesterol levels (hypercholesterolemia). Genetic factors are mainly responsible for