Effectiveness of childhood universal screening for familial hypercholesterolaemia: systematic review
Abstract
Background: Familial hypercholesterolaemia (FH) is an inherited condition characterised by very high lifelong levels of low-density lipoprotein cholesterol leading to an increased risk of atherosclerotic cardiovascular disease (CVD). In the context of impactful preventive public health, CVDs are gaining growing attention. FH remains a condition with a high prevalence yet is underdiagnosed. Unless detected by cascade testing or opportunistically, FH is often only identified after a cardiovascular event. To inform decision-making, this systematic review evaluates whether universal screening for FH in children is clinically effective and safe.
Methods: Electronic searches were conducted in November 2025 across seven databases from inception, supplemented by grey literature searches. Outcomes of interest were case characteristics, morbidity, mortality, surrogate markers, safety, quality of life, and resource use. Population-based observational studies were considered. Screening, data extraction and quality were independently performed by two reviewers.
Results: Of 7,758 records identified and 299 full texts screened, 18 publications on 10 studies met the inclusion criteria. No comparative studies of universal screening were identified. Substantial heterogeneity was observed in the context, screening methods, and populations screened. Screening ages ranged from 1 to 17 years old. Screening typically occurred alongside existing health checks, using non-fasted capillary samples for cholesterol testing, and genetic confirmation. Across four studies, 5% to 8% of children exceeded screening thresholds and required further testing. FH prevalence was reported as 1 in 413 (Slovenia), 1 in 273 (England), and 1 in 150 (Australian pilot). No studies reported safety, morbidity, mortality, resource use or quality of life in children.
Conclusions: Universal screening may help identify FH in children but a lack of long-term comparative evidence of effectiveness limits interpretation.
Key messages: • There is a lack of long-term comparative evidence on effectiveness of universal screening for FH. However, available evidence suggests that universal screening may help identify FH in children.
• The substantial heterogeneity in context, methods, and populations, alongside lack of long-term outcomes across studies limits comparison of the effectiveness of universal FH screening in children.
Related
- Universal cervical length screening and vaginal progesterone: Distinguishing strategy effectiveness from treatment efficacy
- Effectiveness of psychosocial and therapeutic interventions for children and adolescents with adverse childhood experiences: A systematic review and meta‐analysis
- Systematic review of atropine cost-effectiveness in childhood myopia management
- Cost-effectiveness of digital breast tomosynthesis versus digital mammography for breast cancer screening: a systematic literature review
- Clinical impact of early vs. late treatment in familial hypercholesterolaemia: a systematic review
BibTeX
@article{umeokwoaka2026effectiveness,
title = {{Effectiveness of childhood universal screening for familial hypercholesterolaemia: systematic review}},
author = {VC Umeokwoaka and LE Comber and OM Jenkins and A Maher and M O’Neill and M Ryan},
journal = {The European Journal of Public Health},
year = {2026},
month = oct,
doi = {10.1093/eurpub/ckag169.242},
url = {https://doi.org/10.1093/eurpub/ckag169.242},
note = {CC BY-NC 4.0},
}
RIS
TY - JOUR
TI - Effectiveness of childhood universal screening for familial hypercholesterolaemia: systematic review
AU - VC Umeokwoaka
AU - LE Comber
AU - OM Jenkins
AU - A Maher
AU - M O’Neill
AU - M Ryan
PY - 2026
DA - 2026/10/01
JO - The European Journal of Public Health
DO - 10.1093/eurpub/ckag169.242
UR - https://doi.org/10.1093/eurpub/ckag169.242
AB - Background: Familial hypercholesterolaemia (FH) is an inherited condition characterised by very high lifelong levels of low-density lipoprotein cholesterol leading to an increased risk of atherosclerotic cardiovascular disease (CVD). In the context of impactful preventive public health, CVDs are gaining growing attention. FH remains a condition with a high prevalence yet is underdiagnosed. Unless detected by cascade testing or opportunistically, FH is often only identified after a cardiovascular event. To inform decision-making, this systematic review evaluates whether universal screening for FH in children is clinically effective and safe. Methods: Electronic searches were conducted in November 2025 across seven databases from inception, supplemented by grey literature searches. Outcomes of interest were case characteristics, morbidity, mortality, surrogate markers, safety, quality of life, and resource use. Population-based observational studies were considered. Screening, data extraction and quality were independently performed by two reviewers. Results: Of 7,758 records identified and 299 full texts screened, 18 publications on 10 studies met the inclusion criteria. No comparative studies of universal screening were identified. Substantial heterogeneity was observed in the context, screening methods, and populations screened. Screening ages ranged from 1 to 17 years old. Screening typically occurred alongside existing health checks, using non-fasted capillary samples for cholesterol testing, and genetic confirmation. Across four studies, 5% to 8% of children exceeded screening thresholds and required further testing. FH prevalence was reported as 1 in 413 (Slovenia), 1 in 273 (England), and 1 in 150 (Australian pilot). No studies reported safety, morbidity, mortality, resource use or quality of life in children. Conclusions: Universal screening may help identify FH in children but a lack of long-term comparative evidence of effectiveness limits interpretation. Key messages: • There is a lack of long-term comparative evidence on effectiveness of universal screening for FH. However, available evidence suggests that universal screening may help identify FH in children. • The substantial heterogeneity in context, methods, and populations, alongside lack of long-term outcomes across studies limits comparison of the effectiveness of universal FH screening in children.
SN - 1101-1262
SN - 1464-360X
ER -