семейная гиперхолестеринемия, моногенная дислипидемия, наследование, холестерин, липопротеиды низкой плотности, familial hypercholesterolemia, monogenic dyslipidemia, inheritance, cholesterol, low density lipoprotein, Medicine

Familial hypercholesterolemia (FHC) is the most common and most severe form of monogenic dyslipidemia with early and rapidly progressing atherosclerosis and its complications [1--4, 12, 14]. Without treatment, the prognosis for patients with FHC is as heavy as for AIDS patients. For the first time the molecular defect - absence or dysfunction of the LDL receptor (LDL-R), the main route for cholesterol catabolism in humans [2, 3, 12, 13] - was described with regard to this genetic disease. The article analyzes a clinical case of the disease in a 9-year-old boy.