Universal Screening Bests Family Hx to ID of Familial Hypercholesterolemia in Children

Family history alone is inadequate for identifying children with familial hypercholesterolemia (FH), according to a study published Sept. 15 in the Journal of the American College of Cardiology. A universal cholesterol screening program may be effective for earlier identification of these children with FH, who are at 100-fold elevated risk for cardiovascular complications in early adulthood without timely intervention. Current recommendations call for screening children in the United States between nine and 11 years of age, although the exact form of screening (universal or based on family history) is not unanimously agreed upon. Prospective, epidemiological studies are lacking in children, so Slovenia’s experience with universal screening (US) for hypercholesterolemia in 5-year-old children is "useful," experts say. In the current study, 272 Slovenian children (mean referral age 7.3 years) were identified through US to have elevated total cholesterol (TC; higher than 6 mmol/l or higher than 5 mmol/l plus a family history positive for premature cardiovascular complications). These children subsequently were genotyped for variants in four genes associated with FH (LDLR, PCSK9, APOB [exon 26], and APOE). The researchers found that more than half of the referred children (57 percent) carried disease-causing FH variants (38.6 percent in LDLR, 18.4 percent in […]