Les dyslipidémies héréditaires

Lipid transport in the intravascular compartment is ensured by several classes of lipoproteins possessing specific physicochemical and metabolic characteristics. Abnormalities of lipoprotein metabolism leading to extreme plasmatic concentrations (concentrations below the 5th percentile or above the 95th percentile of the distribution) of cholesterol or triglycerides are frequently due to mutations of genes directly involved in this metabolism. Thus, over the last decades, the study of these hereditary dyslipidemias has allowed a better understanding of this metabolism and its pathophysiology. The major part of their large phenotypic diversity has been explained by the identification of the molecular aetiology of several of these disorders. Genetic diagnosis, guided by clinical and biochemical parameters, allows, besides the possibility of family screening, to offer a dietary and/or medical treatment to reduce or eliminate possible consequences of metabolic disorders induced by the causal molecular defect.