What Is the Optimum Approach to Screening for Familial Hypercholesterolemia in Children?

The area of screening and treatment for dyslipidemia in children and adolescents has been controversial. One reason for this is that dyslipidemia is heterogeneous with multiple underlying causes, including genetic and lifestyle causes. One area that is less controversial is that of familial hypercholesterolemia (FH). Familial hypercholesterolemia is due to a genetic abnormality impacting the structure, function, or metabolism of the low-density lipoprotein (LDL) receptor, resulting in elevated plasma LDL cholesterol (LDL-C). There is a variety of gene variants that can underlie FH, including those involving the LDL receptor, apolipoprotein B, or proprotein subtilisin/kexin type 9 (PLSK9), which result in marked elevation of plasma LDL-C from birth and, without intervention, throughout life.