Abstract
Summary: Quantitation of cord blood low density lipoprotein cholesterol (C-LDL), kindred studies, and longitudinal assessment allows the neonatal diagnosis of familial hypobetalipoproteinemia. To assess the relationship between neonatal hypobetalipoproteinemia and C-LDL in later infancy, kindred studies with follow-up were carried out in 11 families with a hypobetalipoproteinemic neonatal propositus, and in two families with normal neonates and hypobetalipoproteinemic adult propositi. Neonatal and familial hypobetalipoproteinemia was diagnosed in one kindred by quantitation of cord blood C-LDL, four-generation vertical transmission, and by demonstration of persistent hypobetalipoproteinemia in later infancy. In a second kindred, the neonate and her father, grandfather, and half-siblings had hypobetalipoproteinemia, but her C-LDL was normal (96 mg/dl) at age 6 months. Whether this unexpectedly normal C-LDL will persist, with a resultant “false positive” diagnosis at birth, can only be determined by longitudinal study. In a third kindred the hypobetalipoproteinemic neonate retained low C-LDL at age 2 years, the mother had borderline-low C-LDL levels, but there were no living siblings or maternal first degree relatives and familial hypobetalipoproteinemia could not be confirmed. The remaining eight hypobetalipoproteinemic neonates had normal C-LDL on follow-up examination; kindred studies failed to reveal familial hypobetalipoproteinernia. Two neonates with normal cord blood C-LDL, born to hypobetalipoproteinemic parents, retained normal C-LDL levels in infancy.
The recent evidence of the protective “anti-coronary risk” nature of low C-LDL (in familial hypobetalipoproteinemia) and elevated C-HDL (in familial hyperalphalipoproteinemia) has augmented interest in neonates having an exceptionally low value of C-LDL and a high value of high density lipoprotein cholesterol (C-HDL). Cord blood and kindred lipoprotein studies may identify families having heritable “anti-coronary risk” factors.
Speculation: Cord blood and kindred Lipoprotein studies focused on the lower 2.5th percentile for C-LDL may identify families having heritable “anti-coronary” risk factors.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Glueck, C., Mellies, M., Tsang, R. et al. Neonatal Hypobetalipoproteinemia. Pediatr Res 12, 665–668 (1978). https://doi.org/10.1203/00006450-197805000-00010
Issue Date:
DOI: https://doi.org/10.1203/00006450-197805000-00010