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.

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