Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
Authors' conclusion
Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation.
Study context
- Population
- Children and adolescents <18 years with clinical or genetic diagnosis of heterozygous familial hypercholesterolaemia (HeFH) at entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry, Oct 2015–Jan 2021
- Participants
- 11,848 children · 55 registries · 48 countries
- Outcome
- Current identification and management of children and adolescents with familial hypercholesterolaemia
Methodological detailsinternational registry (FHSC), 55 regional or national registries in 48 countries
- International registry (FHSC)
- 55 regional or national registries in 48 countries
Main finding
As reported in the abstract
- Median age at registry entry
- 9.6 years (IQR 5.8-13.2)
- Genetically confirmed diagnosis
- 10 099 (89.9%) of 11 235
- Clinical diagnosis
- 1136 (10.1%)
- Genetic diagnosis, high-income countries
- 9427 [92.4%] of 10 202
- Genetic diagnosis, non-high-income countries
- 199 [48.0%] of 415
- Index cases
- 3414 (31.6%) of 10 804
- Not taking lipid-lowering medication (LLM)
- 7557 (72.4%) of 10 428
- LDL-C in those not taking LLM, median
- 5.00 mmol/L (IQR 4.05-6.08)
- Unadapted adult clinical criteria vs genetic diagnosis could miss children and adolescents with FH
- 50-75%
Observational data: associations, not effects.
Original publication
Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. Lancet. Published 12 December 2023. doi:10.
Summarised from the published abstract; every number is checked against it