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Updated: Dec 27, 2025

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Published on: July 21, 2012
Conceptualization of Heterogeneity of Chronic Diseases and Atherosclerosis as a Pathway to Precision Medicine:
Vadim V Genkel1, Igor I Shaposhnik1
1Department of Internal Medicine, Federal State Budgetary Educational Institution of Higher Education "South-Ural State Medical University" of the Ministry of Healthcare of the Russian Federation, Vorovskogo St. 64, 454092 Chelyabinsk, Russia.
Insights
This study explores endotypes, which are distinct pathophysiological mechanisms of atherosclerosis. Identifying these endotypes aids in understanding cardiovascular risk and personalizing internal medicine and cardiology treatments.
Area of Science:
- Internal Medicine
- Cardiology
- Medical Science
Background:
- Pathogenetic heterogeneity is crucial in understanding disease mechanisms.
- Endophenotypes, endotypes, and residual cardiovascular risk are key concepts.
- Atherosclerosis research increasingly focuses on personalized medicine approaches.
Purpose of the Study:
- To review modern conceptualizations of pathogenetic heterogeneity.
- To examine the application of endophenotype and endotype concepts in internal medicine and cardiology.
- To propose five endotypes of atherosclerosis based on genetic and pathophysiological insights.
Main Methods:
- Review of modern medical science literature on pathogenetic heterogeneity.
- Analysis of genetic architecture studies of atherosclerosis.
- Integration of biomarker panels and clinical features for endotype definition.
Main Results:
- Five distinct endotypes of atherosclerosis have been proposed.
- Each endotype is linked to specific pathophysiological mechanisms, genetic substrates, biomarkers, and clinical features.
- These endotypes offer a framework for understanding atherogenesis.
Conclusions:
- Endotypes provide a refined approach to conceptualizing atherosclerosis.
- Understanding atherosclerosis endotypes has significant clinical implications for internal medicine and cardiology.
- Further research into endotypes will advance personalized treatment strategies for cardiovascular disease.
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.
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