Identification of novel biomarkers to distinguish polygenic and monogenic dyslipidemia

Abstract

Objectives: This project aims to identify novel biomarkers to distinguish polygenic and monogenic dyslipidaemia, by an integrative approach, based on the detailed characterization of the lipid profile ID of patients with severe dyslipidaemia. This is expected to contribute to an early and accurate diagnosis, allowing the implementation of a successful therapeutic plan that can be applied still in childhood to effectively abolish/decrease the patient’s cardiovascular risk. Background: Dyslipidaemia is one of the major cardiovascular risk factors. It can be due to primary causes (i.e. monogenic, characterized by a single gene mutation, or dyslipidaemia of polygenic/environmental causes), or secondary to specific disorders such as obesity, diabetes mellitus or hypothyroidism. Monogenic patients present the most severe phenotype and so they need to be identified at an early age, allowing the implementation of pharmacologic treatment able to decrease cardiovascular risk. However, the majority of hyperlipidemic patients most likely have a polygenic disease that can be controlled just by the implementation of a healthy lifestyle. Thus, the distinction between monogenic and polygenic dyslipidaemia is important for a prompt diagnosis, cardiovascular risk assessment, counselling and treatment. In spit of this, none of the current standard biomarkers (i.e. total cholesterol, LDL-c, HDL-c, triglycerides), can effectively make that discrimination between patients.