NEONATAL DIAGNOSIS OF FAMILIAL TYPE-II HYPERLIPOPROTEINÆMIA

The possible detection at birth of children affected with familial hyper-cholesterolæmia (one form of familial type-II hyperlipoproteinæmia) was studied in twenty-nine infants who had one parent with the disorder. In sixteen, the cord-blood plasma concentration of low-density-lipoprotein (L.D.L.) cholesterol exceeded a preselected cut-off limit of 41 mg. per 100 ml. representing the upper 5th percentile for L.D.L. cholesterol in a control population. Thirteen children had a cord-blood L.D.L. cholesterol below this level, and the mean in this group was indistinguishable from that in the controls. All seven with normal L.D.L. cholesterols at birth remained in the normal range at follow-up. Eleven of twelve who had a high L.D.L. cholesterol at birth later had obvious hyperbetalipoproteinæmia. Three of the children re-examined would have been considered normal at birth had the upper 5% for cholesterol concentration (92 mg. per 100 ml.) been used for diagnosis rather than L.D.L. cholesterol. It is concluded that L.D.L. measurement in cord blood allows the identification of children with familial hypercholesterolæmia when one parent is known to have the disorder.