R. Wray et al., SCREENING FOR HYPERLIPIDEMIA IN CHILDHOOD - RECOMMENDATIONS OF THE BRITISH-HYPERLIPIDEMIA-ASSOCIATION, Journal of the Royal College of Physicians of London, 30(2), 1996, pp. 115-118
Children with familial hypercholesterolaemia are at high risk of devel
oping coronary artery disease in early adulthood. The diagnosis should
therefore be made in childhood. Population screening identifies a sma
ll number of children with major genetically determined disorders of l
ipid metabolism and a large number with polygenic hypercholesterolaemi
a of uncertain prognostic significance. Selective screening based on a
family history of familial hypercholesterolaemia or premature coronar
y artery disease is an appropriate strategy for identifying most child
ren with familiar hypercholesterolaemia. A non-fasting total cholester
ol measurement is a suitable screening test: if the concentration exce
eds 5.5 mmol/l, a fasting measurement of total cholesterol, high-densi
ty lipoprotein cholesterol and triglyceride is required. The diagnosis
in a child under 16 years should be based on finding a total choleste
rol concentration greater than 6.7 mmol/l and a low-density lipoprotei
n cholesterol concentration above 4.0 mmol/l on at least two measureme
nts taken more than one month apart. Children should not usually be sc
reened 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.