Hypercholesterolemic and normal neonates from hypercholesterolemic kindreds were studied for 6 to 30 months. Sixteen of 22 hypercholesterolemic neonates and eight of 11 normal neonates came from families with "monogenic" hyperlipoproteinemia. At 6 or 12 months of age, plasma cholesterol level was > 200 mg/100 ml in eight of the 16 neonates with hypercholesterolemia. Four of these eight had cholesterol levels ≥290 mg/100 ml at ages 6 to 18 months. On low cholesterol intake, at ages 6 to 12 months, five of seven infants with hypercholesterolemia had cholesterol levels < 200 mg/100 ml. One of eight normal neonates from families with hypercholesterolemia had cholesterol levels > 200 mg/100 ml at ages 6 to 12 months. Neonatal diagnosis of familial hypercholesterolemia provides an opportunity for long-term primary prevention in a group at high genetic risk for premature ischemic heart disease.
Reginald C. Tsang, Charles J. Glueck, Ronald W. Fallat, Margot Mellies. Neonatal Familial Hypercholesterolemia. Am J Dis Child. 1975;129(1):83–91. doi:10.1001/archpedi.1975.02120380057013