Clinico-genåtical peculiarities of probands with familial hypercholesterolemia and members of their families, observed during 10 years and more

Abstract

Target. Track the dynamics of dyslipidemia (DLP) over 10 years in children with confirmed mutations in the low density lipoprotein receptor gene as they grow older; assess the severity of DLP in patients with different mutations; to determine the influence of the gender of mutation carriers on the severity of the manifestation of coronary heart disease (IHD). Material and methods. We examined a group of 45 probands with typed mutations in the gene for the low density lipoprotein (LDL) receptor, as well as their available relatives. In all patients, plasma levels of cholesterol (CS), triglycerides (TG), LDL cholesterol, high density lipoprotein cholesterol (HDL) were determined and the nature of clinical (vascular) lesions was assessed. Results. Due to the high heterogeneity of mutations in familial hypercholesterolemia, we were unable to identify the relationship between the type of mutation and the severity of the disease. As a rule, IHD complications are less common and occur in a milder form in women - carriers of mutations than in men. A possible reason for these gender differences is the higher HDL levels in women. We did not reveal a definite unidirectional dynamics of manifestations of atherosclerosis in children of probands with mutations in the LDL receptor gene. Conclusions. The only reliably established lipid factor that prevents the development of atherosclerosis in patients with genetically confirmed familial hypercholesterolemia is a high level of HDL.