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Familial hypercholesterolaemia (FH) is an important autosomal dominant cause of early-onset atheroma and coronary artery disease. Most affected individuals are heterozygotes, with an estimated population frequency of 1 in 500, and have one affected parent. Much more rarely, children may be homozygous, with an estimated frequency of 1 in a million, and with two affected parents. The development of more effective treatments for this condition have raised questions about the optimum timing of initiation of treatment and therefore of targeted investigations in children.
In addition, the rising rate of obesity in adults and children is associated with an increasing risk of cardiovascular disease in those without a family history of hypercholesterolaemia. Early identification of those children with both obesity and raised cholesterol levels could help to modify subsequent cardiovascular risk. In the USA, the American Academy of Pediatrics (AAP) has updated its guidance on cholesterol in childhood.1 It advocates including targeted screening of children with cardiovascular risk factors including children between the ages of 2 and 10 years with a body mass index (BMI) at or above the 85th percentile. Key points are summarised below. In the UK, the National Institute for Health and Clinical Excellence (NICE) recommends considering investigating children with a BMI at or above the 98th centile for age.2
In the UK, NICE has published a clinical guideline in August 2008, covering both adults and children with FH.3 This includes the diagnosis and management of both heterozygous and homozygous forms. The recommendations are not graded, but are supported by detailed evidence tables. The guideline is accompanied by a slide set to assist implementation, a costing report, audit standards and recommendations for further research. Selected points from this guideline follow.
Box 1 Simon Broome diagnostic criteria
Diagnose a person with definite familial hypercholesterolaemia (FH) if they have the following:
Total cholesterol …
Competing interests: None declared.
↵i Age and sex-related red, grey and green zones are set out in Appendix E of the guideline. For girls under the age of 15 years with a relative with FH, an LDL-C of 3.8 mmol/l and above is in the red zone, and is likely to indicate a clinical diagnosis of FH. For boys this level is 3.5 mmol/l.
↵ii 190 mg/dl = 4.9 mmol/l. 160 mg/dl = 4.1 mmol/l. 130 mg/dl = 3.3 mmol/l.