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Screening for familial hyper-beta-lipoproteinaemia in children in hospital
Insights
Screening all children for familial hyper-beta-lipoproteinaemia using plasma cholesterol is not recommended. Further lipoprotein studies are advised for children with a family history of early heart disease.
Area of Science:
- Pediatrics
- Biochemistry
- Cardiovascular Health
Background:
- Plasma cholesterol levels are routinely measured in hospitalized children.
- Familial hyperlipoproteinaemia (FH) is a genetic condition affecting lipid levels.
- Early identification of hypercholesterolaemia in children is crucial for cardiovascular health.
Purpose of the Study:
- To assess the utility of plasma cholesterol screening in identifying familial hyper-beta-lipoproteinaemia (FH) in hospitalized children.
- To investigate the causes of hypercholesterolaemia in children without known familial disorders.
- To determine the prevalence of FH and secondary hyperlipoproteinaemia in a pediatric hospital population.
Main Methods:
- Plasma cholesterol estimations were performed on 1391 children admitted to the hospital.
- Children under 1 year and those with known familial hyperlipoproteinaemia were excluded.
- Repeat cholesterol measurements and family studies were conducted for children with elevated levels.
Main Results:
- The mean plasma cholesterol concentration was 4.28 mmol/l.
- 68 children had cholesterol levels exceeding 5.93 mmol/l.
- Familial hyper-beta-lipoproteinaemia (FH) was diagnosed in 3 children; 8 had secondary hypercholesterolaemia; 6 had environmentally induced hypercholesterolaemia.
Conclusions:
- Routine plasma cholesterol screening for FH in the general childhood population is not currently recommended.
- Lipoprotein studies are recommended for children from families with a history of FH or early coronary heart disease.
- Further research is needed to understand the environmental and polygenic factors contributing to childhood hypercholesterolaemia.
Abstract:
1510 plasma cholesterol estimations were made in 1391 children admitted to hospital as part of a biochemical profile. Babies under 1 year and children known to have familial hyperlipoproteinaemia were excluded. The mean concentration was 4-28 mmol/l +/- 1-04 (1 SD) (165-3 mg/100 ml +/- 38-6), and levels exceeded 5-93 mmol/l (229 mg/100 ml) in 68 children. Repeat estimations on 55 of these children showed 34 still to have values greater than 5-93 mmol/l and family studies were performed in 19 of these. In 8 children hypercholesterolaemia was secondary and no familial lipoprotein disorder was present. Familial hyper-beta-lipoproteinaemia (FH) was diagnosed in 3 children and in 2 of the families there was a history of early ischaemic heart disease. In 2 children the diagnosis was in doubt. In the remaining 6 children FH and secondary hyperlipoproteinaemia were excluded so the hypercholesterolaemia was presumably environmentally induced, possibly in association with polygenic inheritance. In the present state of knowledge screening of the childhood population for FH by means of plasma cholesterol determinations cannot be recommended. Studies of lipoproteins should, however, be made in children from families known to have FH or early coronary heart disease.