Familial hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease. The pathogenesis of this disease is the absence or abnormality of LDL receptors on the surface of cell membranes, leading to abnormal LDL metabolism in the body, resulting in an increase in plasma total cholesterol (TC) levels and low density lipoprotein-cholesterol (LDL-C) levels.

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