An Overview of Familial Hypercholesterolemia in Children and Adolescents-The Story So Far

Familial hypercholesterolemia (FH), characterized by elevated serum cholesterol concentrations from birth onwards, is inherited in an autosomal dominant manner and is classified into heterozygous FH (HeFH) and homozygous FH.

This review provides an overview of existing data on FH, with a focus on diagnostic, screening, and treatment approaches.

FH is consistently underdiagnosed due to the absence of clinical symptoms during childhood in the most common heterozygous form. If left untreated, persistent exposure to markedly elevated low-density lipoprotein-cholesterol levels confers a significantly increased risk for premature atherosclerotic cardiovascular disease development. Because symptoms are typically absent in HeFH, the "gold standard" diagnostic method is genetic testing, which, however, is not widely accessible. The implementation of screening strategies is also important for early detection. Dietary and lifestyle interventions are the first-line therapeutic approach for HeFH, often combined with pharmacotherapy, predominantly using statins. For homozygous FH, dietary and lifestyle modifications along with aggressive pharmacotherapy should be initiated upon diagnosis. High-intensity statins in combination with ezetimibe or proprotein convertase subtilisin/kexin type 9 inhibitors are usually required for optimal lipid control.

Given its rapidly progressive course and the risk of developing unfavorable cardiovascular outcomes early in the life course, timely and effective diagnosis and management of FH are crucial.