Transition of care from childhood/adolescence to adulthood in familial hypercholesterolemia

Ariana Maia; Liliana Fonseca; Isabel Palma

doi:10.1515/jpem-2025-0127

Article

Transition of care from childhood/adolescence to adulthood in familial hypercholesterolemia

Ariana Maia , Liliana Fonseca and Isabel Palma

Published/Copyright: May 6, 2025

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 38 Issue 9

Abstract

Familial hypercholesterolemia (FH) is a common genetic disorder with a co-dominant inheritance pattern, characterized by persistently elevated levels of atherogenic low-density lipoprotein cholesterol (LDL-C) and a significantly increased risk of premature atherosclerotic cardiovascular disease. Given that the cardiovascular risk associated with elevated LDL-C begins in early childhood and progresses over time, early identification and long-term management are crucial. Implementing effective screening programs, genetic testing, and timely initiation of lipid-lowering therapy are essential strategies to mitigate future coronary events, improve quality of life, and reduce morbidity and mortality. This document outlines strategies and recommendations to improve early detection, genetic screening, and holistic management of individuals affected by FH, with particular emphasis on facilitating a structured transition from pediatric to adult healthcare services to ensure continuity of care and sustained treatment adherence.

Keywords: familial hypercholesterolemia; dyslipidaemia; transition of care; paediatric screening; genetic testing; cascade screening

Corresponding author: Ariana Maia, MD, Serviço de Endocrinologia, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal, E-mail: arianamaia@hotmail.com

Research ethics: Not applicable.
Informed consent: Not applicable.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflict of interest: The authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

References

1. Bouhairie, VE, Goldberg, AC. Familial hypercholesterolemia. Cardiol Clin 2015;33:169–79. https://doi.org/10.1016/j.ccl.2015.01.001.Search in Google Scholar PubMed PubMed Central

2. Migliara, G, Baccolini, V, Rosso, A, D’Andrea, E, Massimi, A, Villari, P, et al.. Familial hypercholesterolemia: a systematic review of guidelines on genetic testing and patient management. Front Public Health 2017;5:252. https://doi.org/10.3389/fpubh.2017.00252.Search in Google Scholar PubMed PubMed Central

3. Mach, F, Baigent, C, Catapano, AL, Koskinas, KC, Casula, M, Badimon, L, et al.. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS). Eur Heart J. 2019;41:111-88.10.1093/eurheartj/ehz455Search in Google Scholar PubMed

4. Watts, GF, Gidding, SS, Hegele, RA, Raal, FJ, Sturm, AC, Jones, LK, et al.. International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia. Nat Rev Cardiol 2023;20:845–69. https://doi.org/10.1038/s41569-023-00892-0.Search in Google Scholar PubMed

5. Cuchel, M, Raal, FJ, Hegele, RA, Al-Rasadi, K, Arca, M, Averna, M, et al.. Update on European Atherosclerosis society consensus statement on homozygous familial hypercholesterolaemia: new treatments and clinical guidance. Eur Heart J 2023;44:2277–91. https://doi.org/10.1093/eurheartj/ehad197.Search in Google Scholar PubMed PubMed Central

6. Wiegman, A, Gidding, SS, Watts, GF, Chapman, MJ, Ginsberg, HN, Cuchel, M, et al.. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J 2015;36:2425–37. https://doi.org/10.1093/eurheartj/ehv157.Search in Google Scholar PubMed PubMed Central

7. Watts, GF, Gidding, SS, Mata, P, Pang, J, Sullivan, DR, Yamashita, S, et al.. Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care. Nat Rev Cardiol 2020;17:360–77. https://doi.org/10.1038/s41569-019-0325-8.Search in Google Scholar PubMed

8. Scientific Steering Committee on behalfofthe Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ (Clin Res ed) 1991;303:893–6.10.1136/bmj.303.6807.893Search in Google Scholar PubMed PubMed Central

9. Gidding, SS, Champagne, MA, de Ferranti, SD, Defesche, J, Ito, MK, Knowles, JW, et al.. The Agenda for familial hypercholesterolemia: a scientific statement from the American heart association. Circulation 2015;132:2167–92. https://doi.org/10.1161/cir.0000000000000297.Search in Google Scholar

10. Brunham, LR, Ruel, I, Aljenedil, S, Rivière, JB, Baass, A, Tu, JV, et al.. Canadian cardiovascular society position statement on familial hypercholesterolemia: update 2018. Can J Cardiol 2018;34:1553–63. https://doi.org/10.1016/j.cjca.2018.09.005.Search in Google Scholar PubMed

11. Harada-Shiba, M, Arai, H, Ohmura, H, Okazaki, H, Sugiyama, D, Tada, H, et al.. Guidelines for the diagnosis and treatment of adult familial hypercholesterolemia 2022. J Atherosclerosis Thromb 2023;30:558–86. https://doi.org/10.5551/jat.cr005.Search in Google Scholar

12. Harada-Shiba, M, Ohta, T, Ohtake, A, Ogura, M, Dobashi, K, Nohara, A, et al.. Guidance for pediatric familial hypercholesterolemia 2017. J Atherosclerosis Thromb 2018;25:539–53. https://doi.org/10.5551/jat.cr002.Search in Google Scholar

13. Schmitt, C, Yohannan, TM. Transitioning adolescents and young adults with lipid disorders to adult health care. Curr Atheroscler Rep 2024;26:693–700. https://doi.org/10.1007/s11883-024-01244-0.Search in Google Scholar PubMed PubMed Central

14. Khera, AV, Won, HH, Peloso, GM, Lawson, KS, Bartz, TM, Deng, X, et al.. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J Am Coll Cardiol 2016;67:2578–89. https://doi.org/10.1016/j.jacc.2016.03.520.Search in Google Scholar PubMed PubMed Central

15. Warden, BA, Fazio, S, Shapiro, MD. Familial hypercholesterolemia: genes and beyond. In: Feingold, KR, Anawalt, B, Blackman, MR, Boyce, A, Chrousos, G, Corpas, E, et al., editors. Endotext. South Dartmouth (MA): MDText.com, Inc. Copyright © 2000-2024. MDText.com, Inc.; 2000.Search in Google Scholar

16. Ibrahim, S, Reeskamp, LF, Stroes, ESG, Watts, GF. Advances, gaps and opportunities in the detection of familial hypercholesterolemia: overview of current and future screening and detection methods. Curr Opin Lipidol 2020;31:347–55. https://doi.org/10.1097/mol.0000000000000714.Search in Google Scholar PubMed

17. Morris, JK, Wald, DS, Wald, NJ. The evaluation of cascade testing for familial hypercholesterolemia. Am J Med Genet 2012;158a:78–84. https://doi.org/10.1002/ajmg.a.34368.Search in Google Scholar PubMed

18. Wald, DS, Bestwick, JP. Reaching detection targets in familial hypercholesterolaemia: comparison of identification strategies. Atherosclerosis 2020;293:57–61. https://doi.org/10.1016/j.atherosclerosis.2019.11.028.Search in Google Scholar PubMed

19. Watts, GF, Sullivan, DR, Hare, DL, Kostner, KM, Horton, AE, Bell, DA, et al.. Integrated guidance for enhancing the care of familial hypercholesterolaemia in Australia. Heart Lung Circ 2021;30:324–49. https://doi.org/10.1016/j.hlc.2020.09.943.Search in Google Scholar PubMed

20. Zhang, Y, Pletcher, MJ, Vittinghoff, E, Clemons, AM, Jacobs, DRJr., Allen, NB, et al.. Association between cumulative low-density lipoprotein cholesterol exposure during young adulthood and middle age and risk of cardiovascular events. JAMA cardiology 2021;6:1406–13. https://doi.org/10.1001/jamacardio.2021.3508.Search in Google Scholar PubMed PubMed Central

21. Masson, W, Corral, P, Barbagelata, L, Lavalle-Cobo, A, Nogueira, JP, Siniawski, D, et al.. Reduction of cardiovascular events with the use of lipid-lowering medication in patients with familial hypercholesterolemia or severe primary hypercholesterolemia: a systematic review. J clin lipidol 2022;16:562–73. https://doi.org/10.1016/j.jacl.2022.07.004.Search in Google Scholar PubMed

22. Lloyd-Jones, DM, Morris, PB, Ballantyne, CM, Birtcher, KK, Covington, AM, DePalma, SM, et al.. 2022 ACC expert consensus decision pathway on the role of nonstatin therapies for LDL-cholesterol lowering in the management of atherosclerotic cardiovascular disease risk: a report of the American college of Cardiology solution set oversight committee. J Am Coll Cardiol. 2022;80:1366-418, https://doi.org/10.1016/j.jacc.2022.07.006.Search in Google Scholar PubMed

23. Ballantyne, CM, Banach, M, Bays, HE, Catapano, AL, Laufs, U, Stroes, ESG, et al.. Long-term safety and efficacy of bempedoic acid in patients with atherosclerotic cardiovascular disease and/or heterozygous familial hypercholesterolemia (from the CLEAR harmony open-label extension study). Am J Cardiol 2022;174:1–11. https://doi.org/10.1016/j.amjcard.2022.03.020.Search in Google Scholar PubMed

24. Kim, GK, Yee, JK, Bansal, N. Algorithms for treating dyslipidemia in youth. Curr Atheroscler Rep 2023;25:495–507. https://doi.org/10.1007/s11883-023-01122-1.Search in Google Scholar PubMed

25. Poornima, IG, Pulipati, VP, Brinton, EA, Wild, RA. Update on statin use in pregnancy. Am J Med 2023;136:12–4. https://doi.org/10.1016/j.amjmed.2022.08.029.Search in Google Scholar PubMed PubMed Central

26. Sliwinski, SK, Gooding, H, de Ferranti, S, Mackie, TI, Shah, S, Saunders, T, et al.. Transitioning from pediatric to adult health care with familial hypercholesterolemia: listening to young adult and parent voices. J clin lipidol 2017;11:147–59. https://doi.org/10.1016/j.jacl.2016.11.001.Search in Google Scholar PubMed PubMed Central

27. Por, J, Golberg, B, Lennox, V, Burr, P, Barrow, J, Dennard, L. Transition of care: health care professionals’ view. J Nurs Manag 2004;12:354–61. https://doi.org/10.1111/j.1365-2834.2004.00428.x.Search in Google Scholar PubMed

28. Gleeson, H, McCartney, S, Lidstone, V. Everybody’s business’: transition and the role of adult physicians. Clin Med 2012;12:561–6. https://doi.org/10.7861/clinmedicine.12-6-561.Search in Google Scholar PubMed PubMed Central

29. Nordestgaard, BG, Chapman, MJ, Humphries, SE, Ginsberg, HN, Masana, L, Descamps, OS, et al.. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013;34:3478–90a. https://doi.org/10.1093/eurheartj/eht273.Search in Google Scholar PubMed PubMed Central

30. Austin, MA, Hutter, CM, Zimmern, RL, Humphries, SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004;160:407–20. https://doi.org/10.1093/aje/kwh236.Search in Google Scholar PubMed

Received: 2025-03-08

Accepted: 2025-04-23

Published Online: 2025-05-06

Published in Print: 2025-09-25

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Articles in the same Issue

https://doi.org/10.1515/jpem-2025-0127

Keywords for this article

familial hypercholesterolemia; dyslipidaemia; transition of care; paediatric screening; genetic testing; cascade screening