Paediatric familial hypercholesterolaemia screening in Europe: public policy background and recommendations

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Gidding S. S., Wiegman A., Groselj U., Freiberger T., Peretti N., Dharmayat K., ...More

EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY, vol.29, pp.2301-2311, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 29
  • Publication Date: 2022
  • Doi Number: 10.1093/eurjpc/zwac200
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, EMBASE, Food Science & Technology Abstracts, MEDLINE
  • Page Numbers: pp.2301-2311
  • Keywords: Cholesterol, Familial hypercholesterolaemia, Myocardial infarction, Preventive cardiology, LDL cholesterol, COST-EFFECTIVENESS, CHILDREN, PREVALENCE, DIAGNOSIS, SERVICES, PROGRAM, LIFE, CARE
  • Hacettepe University Affiliated: Yes


Familial hypercholesterolaemia (FH) is under-recognized and under-treated in Europe leading to significantly higher risk for premature heart disease in those affected. As treatment beginning early in life is highly effective in preventing heart disease and cost-effective in these patients, screening for FH is crucial. It has therefore now been recognized by the European Commission Public Health Best Practice Portal as an effective strategy. Model programmes exist in Europe to identify young individuals with FH, which are based on cascade screening of first-degree relatives of affected individuals, universal screening for high cholesterol, opportunistic screening of high-risk individuals, or a combination of the above approaches. Recommendations presented herein to improve identification of FH emphasize that every country should have an FH screening programme. These programmes should be adapted from existing strategies to best fit the individual country's healthcare system, governments should provide financial support for these programmes and related care, and further research to optimize care and implementations should be conducted.