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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Risk factors for cardiovascular events in patients with heterozygous familial hypercholesterolaemia: protocol for a

María Elena Mansilla-Rodríguez1, Manuel J Romero-Jimenez2, Alina Rigabert Sánchez-Junco3

  • 1Vascular Risk Unit, Hospital Infanta Elena, Huelva, Spain.

BMJ Open
|March 29, 2023
PubMed

Insights

This systematic review identifies risk factors for cardiovascular events in patients with heterozygous familial hypercholesterolaemia (heFH). Understanding these predictors is crucial for managing this common genetic condition and preventing premature heart disease.

Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • Heterozygous familial hypercholesterolaemia (heFH) is a primary genetic cause of early atherosclerotic cardiovascular disease.
  • Accurate diagnosis relies on genetic testing, highlighting the importance of identifying at-risk individuals.

Observation:

  • This systematic review will comprehensively search multiple databases until June 2023 for studies on heFH.
  • Risk of bias will be assessed using established tools for various study designs, including RCTs and observational studies.

Findings:

  • The review will synthesize evidence on risk factors predicting cardiovascular events in genetically diagnosed heFH patients.
  • Data quality will be evaluated using the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach.

Implications:

  • Findings will inform clinical practice and patient management strategies for heFH.
  • This research aims to improve cardiovascular event prediction and prevention in individuals with heFH.
Abstract

Keywords:
Coronary heart diseaseGENETICSLipid disordersRisk managementVascular medicine

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