Case conference concerning 9-year-old boy having 20 mmol/lcholesterol: from diagnosis to effective treatment

Abstract

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.

Keywords

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