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Cascade screening for familial hypercholesterolemia: Practical consequences.

Leonora Louter1, Joep Defesche2, Jeanine Roeters van Lennep1

  • 1Department of Internal Medicine, Division Vascular Medicine, Erasmus MC, Rotterdam, The Netherlands.

Atherosclerosis. Supplements
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PubMed
Summary
This summary is machine-generated.

Familial Hypercholesterolemia (FH) screening identifies individuals with high cholesterol to prevent cardiovascular disease (CVD). Recent Dutch healthcare changes reduced participation, highlighting the need for effective cascade screening strategies.

Keywords:
Cardiovascular diseaseFamilial hypercholesterolemiaGenetic cascadeLDL-CholesterolLipidsLipoproteinsPrevention

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Area of Science:

  • Genetics
  • Cardiology
  • Public Health

Background:

  • Familial Hypercholesterolemia (FH) is an autosomal dominant genetic disorder.
  • Mutations in the LDLR gene cause elevated LDL cholesterol, increasing premature cardiovascular disease (CVD) risk.
  • Early lipid-lowering treatment can normalize CVD risk.

Purpose of the Study:

  • To review the practical consequences of implementing and executing FH cascade screening.
  • To highlight lessons learned from the Dutch FH cascade screening program.
  • To discuss the impact of recent healthcare system changes on FH screening participation.

Main Methods:

  • Review of a nationwide, government-subsidized FH cascade screening program in the Netherlands (1994-2014).
  • Analysis of data from a central national FH patient database.
  • Discussion of the transition to integrated healthcare system screening since 2014.

Main Results:

  • Over 28,000 FH patients identified and registered in the Netherlands between 1994 and 2014.
  • Integration into regular healthcare since 2014, coordinated by treating physicians.
  • Significant decline in family member participation due to new healthcare regulations preventing active approach.

Conclusions:

  • Genetic cascade screening is crucial for identifying FH patients and preventing CVD.
  • The Dutch experience demonstrates challenges in maintaining screening participation after healthcare system integration.
  • Adapting strategies is essential to sustain effective FH cascade screening and CVD prevention.