European Atherosclerosis Society consensus statement:
Implementation science and practice
Processes for implementation should be integrated into care models for children and adolescents with FH to ensure effective translation of evidence into practice.
Key strategies that should be considered include personalised care plans, shared decision making, improved communication tools, multi-disciplinary teams, and use of digital technologies. Support from advocacy groups, analyses of quality clinical registry data, and government funding are essential for establishing centres of excellence and providing access to new therapies.
Future research and conclusions
Further research into paediatric FH is necessary, as indicated in Box 4. A focus should be on providing high-level evidence for the effective use of implementation science. The proposed LDL-C cutoffs for diagnostic criteria are based on observational data and the proposed LDL-C treatment goals have not yet been tested in clinical trials.
Despite major advances, FH remains underdiagnosed and undertreated. Early detection and treatment before puberty are crucial to improve long‑term adherence to FH treatment and reduce the lifetime cumulative LDL‑C burden, thereby substantially reducing the cardiovascular risk.
We strongly encourage all countries to establish paediatric screening programmes, with the age range for screening chosen to best fit country-specific countries, but ideally within the first decade of life.
To improve diagnostic sensitivity, we propose lower LDL‑C thresholds for suspecting FH in a child than those presented in the 2015 EAS consensus on FH in children. We also suggest measuring Lp(a) at least once from age 5 and, if elevated, testing Lp(a) in parents and grandparents.
Updated guidance is provided for management of both HeFH and HoFH. For HeFH, we propose lower LDL‑C treatment goals than those presented in the 2015 EAS consensus on FH in children. These revised goals are now achievable in most children with no more than two drugs because of the availability of new lipid‑lowering therapies.
Future research is required as indicated above, with the goal of ensuring that all individuals with FH are identified in childhood, start on best standard of care before puberty, and adhere to such care throughout their lifespan.
| Box 4 Proposals for future studies in paediatric FH |
| 1. Establish thresholds in imaging for excessive subclinical atherosclerosis |
| 2. Cost-effectiveness studies to compare screening strategies |
| 3. Develop more reliable tools to be used for newborn screening |
| 4. Include FH in genomic newborn screening studies |
| 5. Demonstrate the benefit of polygenic risk scores in children |
| 6. Investigate the effectiveness of a cholesterol-lowering diet on ASCVD incidence and mortality |
| 7. Examine the combined risk of FH and elevated Lp(a) in childhood |
We would like to express our sincere appreciation to all authors and contributors of this consensus paper for their outstanding work, expertise, and dedication throughout the process. Their collaborative efforts, thoughtful discussions, and commitment to scientific excellence have been essential in shaping this important and timely publication.
We also extend our gratitude for their engagement and willingness to contribute beyond the manuscript itself, supporting related activities such as the development of this website and dissemination efforts. Their contributions play a key role in ensuring that the key messages of the consensus reach a wide audience and have meaningful impact in the field.
Thank you all for your invaluable contributions;
Albert Wiegman, Mafalda Bourbon, Tomas Freiberger, Samuel S. Gidding, Susanne Greber-Platzer, Urh Groselj, Kirsten B. Holven, Lisa C. Hudgins, Steve E. Humphries, Barbara A. Hutten, Daiana Ibarretxe, Cristina Pederiva, Noel Peretti, Frederick J. Raal, Uma Ramaswami, Veronika Sanin, Raul D. Santos, Elisabeth Steinhagen-Thiessen, Gerald F Watts, Rosie Perkins, Marianne Benn, Christoph J. Binder, Stefano Romeo, Jeanine Roeters van Lennep