Abstract
Familial hypercholesterolemia (CGHS) is a monogenic disease with a predominantly autosomal dominant type of inheritance, accompanied by a significant increase in the level of low-density lipoprotein cholesterol in the blood, and as a result, premature development and progressive course of atherosclerosis, usually at a young age. One of the common causes of the disease is a mutation in the PCSK9 gene. Proprotein convertase subtilisin/kexin type 9 (PCSK9) is the main link in the regulation of blood lipid metabolism due to its direct participation in the degradation of LDL receptors. Currently, only evolocumab is used as PCSK9 inhibitors in children over 12 years of age in the Russian Federation, which has proven the safety and steady reduction of LDL cholesterol in pediatric patients with HES. Another representative of this pharmacological group is alirocumab, which is currently indicated only for people over the age of 18, due to the lack of evidence in children.
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