Особенности диагностики семейной гиперхолестеринемии у детей

Familial hypercholesterolemia is autosomal dominant hereditary disorder developing in in humans since birth and it is characterized by low-density lipoproteins concentration increase in blood. Lack of timely diagnostics and therapy for familial hypercholesterolemia is associated with early development of atherosclerosis, cardiovascular pathology and mortality in first 30–40 days of life. Despite the fact that the optimal period for revealing of disease is childhood, diagnostics of the disease has extremely low quality among children. The article presents screening methods and criteria of familial hypercholesterolemia diagnostics among children.