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Screening for hyperlipidaemia in childhood. Recommendations of the British Hyperlipidaemia Association
Insights
Early diagnosis of familial hypercholesterolaemia in children is crucial to prevent early coronary artery disease. Selective screening using family history and cholesterol levels is recommended for effective identification.
Area of Science:
- Pediatric Cardiology
- Clinical Lipidology
- Preventive Cardiology
Background:
- Familial hypercholesterolaemia (FH) poses a significant risk for early coronary artery disease in affected children.
- Childhood diagnosis of FH is essential for timely intervention and risk management.
- Population screening has limited yield for FH, identifying mostly polygenic hypercholesterolaemia of unclear significance.
Purpose of the Study:
- To outline an appropriate screening and diagnostic strategy for familial hypercholesterolaemia in children.
- To emphasize the importance of early identification for preventing premature cardiovascular disease.
Main Methods:
- Selective screening based on family history of FH or premature coronary artery disease.
- Initial non-fasting total cholesterol measurement, with abnormal results triggering further fasting lipid profile.
- Diagnostic criteria for FH in children under 16 years, requiring elevated total and LDL cholesterol on multiple measurements.
Main Results:
- Selective screening effectively identifies children with FH.
- Non-fasting total cholesterol > 5.5 mmol/l warrants further investigation.
- Specific lipid concentration thresholds (Total Cholesterol > 6.7 mmol/l, LDL-C > 4.0 mmol/l) confirm FH diagnosis in children.
Conclusions:
- Selective screening is the preferred strategy for identifying children with FH.
- Early diagnosis, ideally before age 10, and specialist referral are vital for managing FH.
- Screening should commence after age two, with a focus on timely intervention to mitigate cardiovascular risk.
Abstract:
Children with familial hypercholesterolaemia are at high risk of developing coronary artery disease in early adulthood. The diagnosis should therefore be made in childhood. Population screening identifies a small number of children with major genetically determined disorders of lipid metabolism and a large number with polygenic hypercholesterolaemia of uncertain prognostic significance. Selective screening based on a family history of familial hypercholesterolaemia or premature coronary artery disease is an appropriate strategy for identifying most children with familial hypercholesterolaemia. A non-fasting total cholesterol measurement is a suitable screening test: if the concentration exceeds 5.5 mmol/l, a fasting measurement of total cholesterol, high-density lipoprotein cholesterol and triglyceride is required. The diagnosis in a child under 16 years should be based on finding a total cholesterol concentration greater than 6.7 mmol/l and a low-density lipoprotein cholesterol concentration above 4.0 mmol/l on at least two measurements taken more than one month apart. Children should not usually be screened before the age of two years, but the aim should be to diagnose heterozygous familial hypercholesterolaemia before the age of 10 years. Affected children should be referred for specialist care.