1097 DILEMMAS OF NEWBORN SCREENING FOR HYPERLIPOPROTEINEMIA

Abstract

The incidence of congenital hyperlipidemia and early detection for institution of dietary and/or drug therapy is most desired by a society beset with major related health problems. Between January 30, 1975 to June 30, 1980, 12510 infants were studied with lipid screening (cholesterol, triglyceride, and lipoprotein electrophoresis). Repeated specimens and careful family histories were taken on infants with abnormal values. 51 infants had hyperlipidemia (0.4 per cent). One infant had glycogen storage disease. 71 per cent of the families had a history of hypertension and/or heart disease and 43 per cent, diabetes. 84 per cent of the hyperlipoproteinemic children placed on dietary therapy responded with lower triglyceride and cholesterol values and improved lipoprotein electrophoretic patterns. Diagnosis of hyperlipoproteinemia in the newborn is expensive and requires repeated testing and family history for confirmation. Dietary therapy is effective in lowering lipid values in the majority of children. Immediate family members, e.g.,parents, uncles, aunts, and grandparents have major medical problems. Strong family history of medically associated diseases should dictate future screening in infancy. Although blood lipids are effectively lowered by diet, large controlled studies are necessary to prove preventive aspects.