Basi genetiche ed aspetti terapeutici delle ipercolesterolemie familiari

Atherosclerosis represents a disease that begins in childhood and low-density lipo-protein cholesterol plays a pivotal role for the development of this pathology. Children and adolescents with highcholesterol levels are more likely, than their peers, to present cholesterol elevation as adults. The identification of genetic dyslipidemias associated with premature cardiovasculardisease is crucial during childhood in order to delay or prevent the atherosclerotic process. Guidelines for the diagnosis and treatment of hypercholesterolemia during pediatric age are available from the National Cholesterol Education Program. A heart-healthy diet limiting rotaiand saturated fat intake should begin at age 2 years and a large number of studies have demonstrated no adverse effects on nutritional status, growth, pubertal development and psychological aspects in children and adolescents. Pharmaco- therapy should be considered in children over l0 years of age when low-density lipoprotein cholesterol concentrations remain very high despite severe dietary therapy, especially when multiple riskFactors are present the only lipid-lowering drugs recommended until now for childhood and adolescence are the resins which although have been reported to be effective and well tolerated, have shown to be associated with very poor compliance because of unpalatability. The use of statins is increasing and seems to be effective and sale in children, even if current studies have enrolled only a small number of patients and evaluated efficacy and safety (for short-term follow-up). Recently, a new drug, ezetimibe, seems to be efficacious and is synergic to the cholesterol-lowering therapeutic effects of statins. This review provides an update on recent advances in the diagnosis, therapy, and follow-up of familial hypercholesterolemia during pediatric age and adolescence.