Hypercholesterolemias: Pathogenesis and pathophysiological implications

Abstract

In this review, we provide an overview of recent literature data and practical knowledge related to hypercholesterolemias and their pathophysiological implications. Elevated blood lipid levels (hyperlipidaemias) are the most common metabolic disorders in global population. There is consensus regarding hypercholesterolemia, hypertension and cigarette smoking as the three main risk factors for atherothrombosis, with consequences such as cardiovascular and cerebrovascular diseases, being the leading cause of morbidity and mortality worldwide. In relation to this, familial hypercholesterolemia is the most deleterious precursor of coronary artery disease. This severest form of hyperlipidaemia refers to an inherited disorder of cholesterol metabolism due to defects in the receptor for low density lipoprotein (LDL). Besides, numerous factors, including drugs, can influence lipid status and significantly contribute to the development of secondary hypelipidaemias. Thus, inappropriate diet, obesity, diabetes mellitus and alcohol use, in particular, are commonly associated with high blood lipid levels. Therefore, secondary causes of high blood lipids should be considered in each patient with a lipid disorder before lipid-lowering therapy is started. Having in mind the increase of prevalence of lipid metabolism disorders in future, it is necessary to take preventive actions to decrease risk factors (inappropriate diet rich in carbohydrates and saturated fat, obesity, cigarette smoking, sedentary lifestyle and physical inactivity). However, although various studies related to this medical problem have been carried out, scientists are still far from a complete understanding of the molecular basis of this problem.