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Related Experiment Video

Updated: Nov 15, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical

Fernando Sabatel-Pérez1,2, Joaquín Sánchez-Prieto1, Víctor Manuel Becerra-Muñoz2

  • 1Department of Cardiology, Complejo Hospitalario Universitario de Toledo, 45004 Toledo, Spain.

Journal of Clinical Medicine
|March 6, 2021
PubMed
Summary
This summary is machine-generated.

Active screening for familial hypercholesterolemia index cases (FH-IC) using centralized data significantly improves FH diagnosis. This strategy enhances detection rates and supports universal screening efforts.

Keywords:
atherosclerosis preventionearly detectionfamilial hypercholesterolemiagenetic screening

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Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Public Health

Background:

  • Familial hypercholesterolemia index cases (FH-IC) are often underdiagnosed and undertreated due to a lack of universal detection strategies.
  • Effective screening protocols are crucial for identifying individuals with FH and initiating timely management.

Purpose of the Study:

  • To evaluate the diagnostic yield of an active screening strategy for FH-IC based on centralized analytical data.
  • To assess the effectiveness of using the Dutch Lipid Clinic Network (DLCN) criteria in identifying potential FH cases for genetic testing.

Main Methods:

  • A clinical screening of 469 individuals with severe hypercholesterolemia (LDL-C ≥220 mg/dL) was conducted from 2016 to 2019.
  • Patients with DLCN scores ≥6 were genetically tested; a subset with DLCN scores of 3-5 was also tested for comparative analysis.
  • Genetic confirmation of FH was pursued for individuals meeting specific DLCN criteria.

Main Results:

  • FH was genetically confirmed in 57 out of 84 patients (67.9%) with DLCN ≥6, indicating an overall prevalence of 12.2%.
  • Prior to the study, only 36.8% of genetically confirmed FH patients had a clinical diagnosis.
  • The active genetic screening strategy led to a 2.3-fold increase in FH detection (p < 0.001).

Conclusions:

  • A sequential, active screening strategy for FH-IC effectively increases diagnostic yield.
  • This approach optimizes resource utilization and can facilitate the implementation of universal and family-based cascade screening for FH.
  • Improved diagnostic rates are essential for better management of familial hypercholesterolemia.