Screening for hypercholesterolaemia in 10,000 neonates in a multi-ethnic population

An immunoassay was developed for the detection of hypercholesterolaemia in dried blood spots collected from 6-day-old neonates. Blood spot samples (9,673) were subjected to immunoturbidimetric assay to determine the levels of apolipoprotein B (apoB), an index of plasma low density lipoprotein, and of apolipoprotein A-1 (apoA-1), an index of plasma high density lipoprotein. Infants with raised apoB or a reduced apoA-1/apoB ratio were recalled, retested and, if appropriate, referred to the Vascular Risk Clinic at King's College Hospital for medical management. A total of 189 were recalled for further testing; of whom 82 (45%) attended the recall clinic. A group of 16 families (24 individuals) had abnormal lipid profiles; of these, 7 families (14 individuals) had lipid profiles consistent with inherited hypercholesterolaemia.

Neonatal screening for hypercholesterolaemia using blood spot apolipoprotein measurements is feasible but ethnic variations in disease prevalence must be considered in the design of a screening programme.