Гетерозиготная семейная гиперхолестеринемия в Санкт-Петербурге вследствие дефекта гена рецептора липопротеидов низкой плотности

Aim to analyze how commonly Familial hypercholesterolemia (FH) is transmittedfrom one of parents-probands to children; to evaluate peculiarities of the blood lipid spectra in males andfemales sufferingfrom FH and their sons and daughters; to compare thefrequency and expression of clinical features in differentiated groups and, when possible, to establish the nature of genetic defect underlying FH. Materials and methods. During last two decades we have followed 60 probands with FH and two groups of their children: 40 persons with heterozygous FH (group 1) and 43 persons without this pathology (group 2). Blood lipid spectra was measured several times in all subjects. In 47 probands we have studied the coding region of the low density lipoprotein receptor (LDLR) by conformation-sensitive electrophoresis of DNA and by DNA sequencing. Results. FH was transferred to half of the progeny (50% of children) both from fathers and from mothers. Clinical features of hypercholesterolemia were mainly observed in the group of males-probands older than 40 years. In 93% of these persons coronary heart disease was registered and during our observation 38% of them finished by lethal end-point. In the group of sons with FH (age 31±3.5) and in the group of daughters with FH (age 40±3.1) clinical manifestations were recorded in singletons. Out of 47 probands studied genetically LDL receptor gene mutations were revealed in 29. Conclusion. In persons with FH the most important risk factor for coronary heart disease must be considered male sex and age after40-45 Out of 29 probands with different variants of the genetic defect only two variants were repeated 5 (in 10 persons), all other variants (each of them) spread only in the single family.