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January 1975

Neonatal Familial Hypercholesterolemia

Author Affiliations

From Children's Hospital Research Foundation (Dr. Tsang), and Lipid Research Division and General Clinical Research Center (Drs. Glueck, Fallat, and Mellies), University of Cincinnati, College of Medicine.

Am J Dis Child. 1975;129(1):83-91. doi:10.1001/archpedi.1975.02120380057013

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.