| Summary: | BACKGROUND: Familial hypercholesterolemia (FH) is an inherited disorder of lipoprotein metabolism characterized by highly elevated total cholesterol (TC) concentrations early in life, independent of environmental influences. Around 1 in 200 to 1 in 500 persons in North America and Europe are estimated to have heterozygous FH. When untreated, FH is associated with a high incidence of premature clinical atherosclerotic cardiovascular disease. CONCLUSIONS: We found no direct evidence of the effect of screening on intermediate or health outcomes. The evidence describing the diagnostic yield of screening for FH in children is minimal. There is good evidence of the effectiveness of statins in reducing LDL-C and TC concentrations in studies up to 2 years long and limited evidence of a statin effect on measures of atherosclerosis. Statins were generally well-tolerated in the short term, although reversible elevations of liver enzymes and/or creatine kinase concentrations were noted in some studies and a decrease in dehydroepiandrosterone sulfate was noted in one study. Bile-acid binding resins were commonly associated with adverse gastrointestinal symptoms and poor palatability. Long-term harms are unknown. Randomized trials of screening for FH in U.S. youth are needed, as are longer-term treatment trials evaluating the benefits and harms of medications in children and adolescents with FH.
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