[Familial hypercholesterolemia in children and adolescents]

Familial hypercholesterolemia in children and adolescents. Familial hypercholesterolemia is a common genetic disease. The dominant autosomal heterozygous form is most common in relation to the pathogenic mutation of a single gene responsible for a significant rise in LDL-cholesterol levels in childhood. In the absence of treatment, this abnormality exposes to a risk of early cardiovascular diseases in men and women. This pathology is totally asymptomatic in childhood. A lipid check-up should be proposed in case of a familial history of early cardiovascular diseases or severe dyslipidemia, if a mutation is already known in parents or if familial history is unknown. The diagnosis is suspected if LDL-cholesterol is > 1,6 g/L. A genetic assessment will be proposed according to family history and evolution. Management begins in childhood with the initial introduction of specific dietary measures. However, these are often insufficient requiring statin therapy from the age of 8.