Prevention & lipidsCohort study
Genetic screening of children for familial hypercholesterolaemia: the VRONI study
- Population-based screening study
- two-step biochemical and genetic screening
- Southern Germany (Bavaria)
- up to 480 paediatricians
Authors' conclusion
The prevalence of FH determined in this study is significantly higher than previously published estimates (∼1:250), highlighting the importance of this condition for public health and supporting calls for a national paediatric screening programme, given the availability of effective treatment options.
Study context
- Population
- Children aged 4.8–14.9 years at routine paediatric examinations, Bavaria, from September 20201,670 genetically analysed
- Participants
- 25,431 children
- Outcome
- Prevalence of FH-causing variants
Main finding
As reported in the abstract
Overall prevalence of familial hypercholesterolaemia (FH)-causing variants
1:90
Predicted prevalence after adjustment for ascertainment bias (generalized linear mixed model)
1 in 163 (0.61%)
Positive among genetically analysed children
17% (283/1670)
Observational data: associations, not effects.
Further findings
Low-density lipoprotein cholesterol (LDL-C) ≥3.36 mmol/L (93rd percentile)
- Children with LDL-C ≥ 3.36 mmol/L
- 1689
FH-causing variants by LDL-C concentration
- LDL-C 3.36-3.49 mmol/L
- 4.7% (23/492)
- LDL-C above 5.17 mmol/L
- 78.6% (81/103)
Pathogenic variants by method
- Focused panel
- 157
- Next-generation sequencing
- 283
LDLR founder variant
- Carriers of founder variant (40 times more frequent than European average)
- 63
Benchmarks of FH-variant prevalence
- gnomAD (n = 622 057)
- 1:165
- UK Biobank (n = 48 741)
- 1:176
Original publication
Summarised from the published abstract; every number is checked against it