Клинико-генетические особенности пробандов с семейной гиперхолестеринемией и членов их семей, наблюдавшихся в Санкт-Петербурге на протяжении 10 лет и более

Aim of the current study was tofollow development of dyslipidaemia in children of probands with verified mutations of the LDL receptor gene as these children were growing up; to compare severity of atherosclerotic complications inpatients with different LDL receptorgene mutations, and to compare atherosclerotic diseaseprogress in males andfemales withfamilial hypercholesterolemia (FH). Methods. We were following probands with FH and their available relatives with LDL receptor gene mutations, including children, during 10 years. In all patients total blood plasma cholesterol, triglycerides, LDL cholesterol and high-density lipoprotein (HDL) cholesterol were monitored and FH clinical manifestations (artery lesions) during progress of the disease were documented. Results. Due to high heterogeneity of FH-causing mutations in St. Petersburg, wefailed to establish interrelations between type of LDL receptorgene mutation and severity of the atherosclerosis manifestations. As a rule, complications of coronary heart disease arefound less commonly and tend to be less severe in females rather than in males. One possible explanation of these differences may be a higher level of antiatherogenic HDL in FH females compared to FH males. We failed to find evident progression of atherosclerosis in proband’s children with LDL receptor gene mutations during period of research. Conclusions. High level of HDL is the only one proved lipid factor preventing atherosclerosis development in patients withgenetically verified familial hypercholesterolemia.