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6.Familial hypercholesterolemia

Familia hypercholesterolemia




Familial hypercholesterolemia (FH) is an inherited genetic disorder that causes high levels of low-density lipoprotein (LDL) cholesterol in the blood. It affects approximately 1 in 250 individuals worldwide and is one of the most common inherited disorders leading to premature heart disease.


FH is caused by a mutation in one of several genes responsible for cholesterol metabolism. This mutation leads to a reduced ability of cells in the body to remove LDL cholesterol from the bloodstream. As a result, individuals with FH have significantly elevated levels of LDL cholesterol in their blood from birth, which can lead to the development of atherosclerosis and subsequent heart disease at a young age.

6.Familial hypercholesterolemia


Symptoms of FH include the development of fatty deposits on the skin called xanthomas, which are typically seen on the hands, elbows, and knees. In addition, individuals with FH may experience chest pain, heart attacks, or strokes at a younger age than the general population.

Diagnosis of FH involves a combination of physical examination, blood tests, and genetic testing. A family history of early-onset heart disease is also a strong indicator of the presence of FH.

Treatment for FH typically involves a combination of lifestyle changes and medication. Lifestyle changes may include adopting a heart-healthy diet, increasing physical activity, and avoiding tobacco products. Medications used to treat FH include statins, which lower LDL cholesterol levels, and other medications such as ezetimibe, which inhibit cholesterol absorption in the intestine.

For individuals with severe FH, treatment may also involve a procedure called LDL apheresis. This involves removing LDL cholesterol from the blood through a machine similar to a dialysis machine. LDL apheresis is typically reserved for individuals with severe FH who have not responded to other treatments.

In conclusion, Familial hypercholesterolemia is a genetic disorder that leads to high levels of LDL cholesterol in the blood, leading to the development of premature heart disease. Early diagnosis and treatment are critical to preventing the development of heart disease and improving outcomes for individuals with FH. If you suspect that you or a family member may have FH, it is important to speak with your healthcare provider and undergo testing.

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