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LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for
Martin Prøven Bogsrud1, Tonje Talsnes Stava1,2, Knut Erik Berge1
1Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, P.O. Box 4950 Nydalen, NO-0484 Oslo, Norway.
Insights
Cholesterol screening for familial hypercholesterolaemia (FH) is ineffective in newborns due to significant LDL cholesterol overlap. However, it becomes effective for children aged 1 year and older, identifying most FH cases.
Area of Science:
- Pediatric Cardiology
- Clinical Genetics
- Public Health Screening
Background:
- Familial hypercholesterolaemia (FH) is a genetic condition leading to high cholesterol.
- Universal cholesterol screening in children, followed by genetic testing, is proposed for FH detection.
- The efficacy of cholesterol-based screening in a national program requires investigation.
Purpose of the Study:
- To evaluate the effectiveness of cholesterol screening for identifying familial hypercholesterolaemia (FH) in children.
- To compare cholesterol levels in newborns and children with and without FH mutations.
- To determine the feasibility of cholesterol-based screening for FH across different age groups.
Main Methods:
- Utilized data from the Norwegian national family cascade screening program (1998-2023).
- Compared cholesterol levels (umbilical cord and venous blood) in newborns and children aged 1-12 years.
- Analyzed data from 113 newborns and 1346 children, differentiating between FH variant positive and negative individuals.
Main Results:
- Newborns with FH had higher LDL cholesterol (LDL-C) but with wide overlap, limiting screening efficacy (55.7% to 75.4% detection).
- Screening efficacy in newborns was consistent across subgroups (sex, variant type).
- In children aged 1-12 years, LDL-C effectively discriminated between FH and non-FH, with 88.4% to 94.1% detection rates.
Conclusions:
- Cholesterol-based screening for FH is not reliable in newborns due to significant overlap in LDL-C levels.
- Screening for FH using cholesterol levels is feasible and effective from 1 year of age onwards.
- This study provides unique insights into LDL-C overlap in pediatric FH using national screening data.
Background And Aims:
Cholesterol screening in children, with subsequent genetic testing of top percentile, has been suggested as an efficient universal screening approach in familial hypercholesterolaemia (FH). The potential cholesterol-based screening efficacy was investigated in a national genetically based screening programme.
Methods:
Data were from the Norwegian national family cascade screening programme in FH children from 1998 to 2023. Cholesterol levels [umbilical cord in newborns (n = 113) and venous blood in children 1-12 years old (n = 1346)] in variant positive and variant negative children were compared.
Results:
LDL cholesterol (LDL-C) was higher in FH newborns vs non-FH newborns [1.22 (.48) vs .68 (.32) mmol/L, P < .001], but overlapped widely. Cut-off levels corresponding to the 95th and 85th percentile would only identify 55.7% and 75.4% of newborns with FH, respectively. Screening efficacy in newborns did not differ in subgroups: boys and girls, null and non-null variants, variant gene, and neither for total cholesterol nor for non-HDL cholesterol. In all other age groups (from 1 to 12 years), LDL-C discriminated highly between mutation FH and non-FH children. Cut-off levels corresponding to 95th and 85th percentile of LDL-C would identify 88.4% and 94.1% of 1-12-year-old children with FH, respectively.
Conclusions:
Previous studies investigating lipid or genetic screening approaches for FH have limitations of only performing genetic testing in children with high LDL-C levels. The present study is the first to show the true LDL-C overlap in children with FH vs non-FH by utilizing unique data from a national family cascade screening programme. Cholesterol-based screening approaches for FH only seem feasible from 1 year of age onward.
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