Screening for neonatal hypercholesterolemia by measuring plasma apolipoprotein B on day 5 with an ELISA

Abstract To investigate the feasibility of a screening procedure for neonatal hypercholesterolemia using a sandwich-ELISA for plasma apolipoprotein B (apoB), we measured the concentration of plasma apoB in 121 newborns at the end of the first week of life. The mean (±SD) plasma apoB was 80.2±26.0 mg/dI. For the verification of the detection of ‘positive’ cases, 6 out of 7 infants with apoB levels within the top 5% (> 123 mg/dl) were consecutively followed up during the following 4 years. At an age ranging from 6 to 19 months 5 of these 6 children had to be classified as hyperlipoproteinemic, having levels of total cholesterol (TC) and/or triglycerides (TG) above the 90th percentile (according to Lipid Research Clinics data) and/or low density lipoprotein cholesterol (LDL-C) above the 95th percentile (in reference to results of the Bogalusa Heart Study). In three cases a positive family history with premature coronary death and in two other cases the occurrence of hypercholesterolemia in the probands and their mothers supported the diagnosis of familial dyslipidemia. From these data it is concluded that determining plasma apoB in 3 to 5 day old babies offers the possibility to detect hypercholesterolemia and other inherited forms of dyslipoproteinemia in newborns and represents, therefore, a technique which could be included in future screening programs.