Family hypercholesterolaemia at children: clinic, diagnostics, treatment

Abstract

The Family Hypercholesterolaemias (FH) are a group of genetic disorders which lead to substantial increase of level of a cholesterol in a blood and an increased risk of early development of atherosclerosis and, therefore, increased mortality from coronary heart disease. FH – one of the most common metabolic disorders that occurs at the person already since the birth. Early diagnostics as identification of FH at children’s age will allow to begin early treatment is of great importance and to prevent development of cardiovascular pathology in the future. Criteria of phenotypical and genetic diagnostics of FH are given in article. Despite rough interest in this disease around the world, in Russia it remains poorly studied, especially among the children’s population. There is no detection system, routing of inspection, observation and registration of sick children, the low level of genetic consultation becomes perceptible. It testifies to need of significant improvement of knowledge and a comprehension of this pathology both for society, and among health workers.