Universal Screening for Familial Hypercholesterolemia in Children

Abstract

Most participants who were referred from a national database of universal screening results for hypercholesterolemia had genetically confirmed FH. Data for family history may not suffice for reliable identification of patients through selective and cascade screening.

International Developments in the Care of Familial Hypercholesterolemia: Where Now and Where to Next?

“…In contrast to European and Australasian recommendations, the National Lipid Association in the United States recommends universal screening for hypercholesterolemia in the young, emphasizing the importance of early detection 15,29) . This approach needs to be widely tested, but initial reports from Slovenia are encouraging 33) .…”

“…Since 1995, a national screening program was adopted in Slovenia (population approx. 2 million) in children at the age of 5 years 33) . By 2013, ~20,000 children had been screened; 272 were identified to meet the screening criteria of total cholesterol 6 or 5 mmol/L with a family history of cardiovascular complications and of these, 155 (57%) were found to carry FH genetic mutations.…”

Are Genetic Tests for Atherosclerosis Ready for Routine Clinical Use?

“…A recent study in Slovenia, which has the only current country-wide screening program of children, suggested that multifactorial hypercholesterolemia accounts for a substantial percentage (43%) of the identified FH cases and is less likely to have an associated positive family history. 18 Some of these polygenic FH cases can also be captured using genetic testing. Risk scores using 6 and 12 single nucleotide polymorphisms (SNPs) associated with LDLC levels have been developed and shown to have good discrimination in separating FH cases with no known mutation from healthy controls, though the clinical utility is less clear.…”

Universal Cholesterol Screening in Childhood: A Systematic Review

“…Twenty-one, including nine new studies published since 2005 [19][20][21][22][23][24][25][26][27] , were eligible for inclusion as shown in Figure 2. Three studies described different components of a large school-based screening intervention (the CARDIAC project) 20,22,24 ; the rest represented separate studies.…”

“…Thirteen studies addressed screening in children aged 12 years and younger 19,20,26,[28][29][30][31][32] , four studies addressed adolescents [33][34][35][36] , and four studies addressed both young children and adolescents. 21,[37][38][39] Seventeen studies were from the United States, two from the UK 19,35 , one from Slovenia 26 , and one from Denmark.…”