Conceptualization of Heterogeneity of Chronic Diseases and Atherosclerosis as a Pathway to Precision Medicine: Endophenotype, Endotype, and Residual Cardiovascular Risk

Abstract

The article discusses modern approaches to the conceptualization of pathogenetic heterogeneity in various branches of medical science. The concepts of endophenotype, endotype, and residual cardiovascular risk and the scope of their application in internal medicine and cardiology are considered. Based on the latest results of studies of the genetic architecture of atherosclerosis, five endotypes of atherosclerosis have been proposed. Each of the presented endotypes represents one or another pathophysiological mechanism of atherogenesis, having an established genetic substrate, a characteristic panel of biomarkers, and a number of clinical features. Clinical implications and perspectives for the study of endotypes of atherosclerosis are briefly reviewed.