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

Author:

Gidding Samuel S1ORCID,Wiegman Albert2ORCID,Groselj Urh3,Freiberger Tomas45,Peretti Noel67,Dharmayat Kanika I8,Daccord Magdalena1,Bedlington Nicola1,Sikonja Jaka3ORCID,Ray Kausik K8,Santos Raul D91011,Halle Martin1213ORCID,Tokgözoğlu Lale14,Gutiérrez-Ibarluzea Iñaki15,Pinto Fausto J1617,Geanta Marius1

Affiliation:

1. The European FH Patient Network (FH Europe), Star House, Star Hill , Rochester, Kent ME1 1UX , UK

2. Department of Paediatrics, Amsterdam University Medical Centers, University of Amsterdam , Meibergdreef 9, 1105 AZ Amsterdam , The Netherlands

3. Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana , Bohoričeva ulica 20, Ljubljana , Slovenia

4. Centre for Cardiovascular Surgery and Transplantation , Pekařská 53, 656 91 Brno , Czech Republic

5. Medical Faculty, Masaryk University , Kamenice 5, 625 00 Brno , Czech Republic

6. Department of Pediatric Gastroenterology-Hepatology and Nutrition, Hospices Civil de Lyon HCL, Hôpital Femme Mere Enfant HFME, Bron , France

7. Univ-Lyon, CarMeN Laboratory, INSERM U1060, INRAE U1397, Université Claude Bernard Lyon-1 , Oullins, Lyon , France

8. Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, Imperial College London , St Dunstan’s Road, London W6 8RP , UK

9. Heart Institute (InCor), University of Sao Paulo Medical School Hospital , Sao Paulo , Brazil

10. Preventive Medicine Centre and Cardiology Program, Hospital Israelita Albert Einstein , Sao Paulo , Brazil

11. International Atherosclerosis Society (IAS) , Milan , Italy

12. Department of Prevention and Sports Medicine, Faculty of Medicine, University Hospital ‘Klinikum rechts der Isar’, Technical University Munich , Munich , Germany

13. DZHK (Deutsches Zentrum für Herz-Kreislauf-Forschung), partner site Munich, Munich Heart Alliance , Munich , Germany

14. Department of Cardiology, Hacettepe University, Ankara , Turkey

15. Head of Knowledge Management and Health Technology Assessment, Basque Foundation for Health Innovation and Research (BIOEF) , Ronda de Azkue, 1, 48902 Barakaldo (Bizkaia), Basque Country , Spain

16. World Heart Federation , Geneva , Switzerland

17. Cardiovascular Department, CCUL, CAML, Lisbon School of Medicine, University of Lisbon , Portugal

Abstract

Abstract 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.

Funder

FH Europe

Slovenian Presidency

European Union

Publisher

Oxford University Press (OUP)

Subject

Cardiology and Cardiovascular Medicine,Epidemiology

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