Olga Maliachova and Stella Stabouli* Pages 3672 - 3677 ( 6 )
Familial hypercholesterolemia is a hereditary genetic disorder predisposing in premature atherosclerosis and cardiovascular complications. Early diagnosis as well as effective treatment strategies in affected children are challenges among experts. Universal screening and cascade screening among families with familial hypercholesterolemia are being controversially discussed. Diagnosis of familial hypercholesterolemia in children and adolescents is usually based on clinical phenotype upon LDL-C levels and family history of premature cardiovascular and/or elevated LDL-C. Treatment approaches for familial hypercholesterolemia in the pediatric population are multidisciplinary and aim to reduce total cardiovascular risk. The most widely recommended and effective pharmacotherapy in the pediatric age group is currently statins. Ezetimibe and bile acid sequestrants are usually used as second-line agents. New therapeutic approaches, such as mipomersen and PCSK9 inhibitors seem promising. The main gap of evidence remains the lack of longitudinal follow up studies investigating cardiovascular outcomes, side effects, and effectiveness of treatment starting from childhood. Evidence would be expected in the near future by cohort and registry studies.
Familial hypercholesterolemia, children, adolescents, LDL cholesterol, carotid intima-media thickness, lipid-lowering treatment, statins.
1st Department of Pediatrics, Aristotle University Thessaloniki, Hippocratio General Hospital, Thessaloniki, 1st Department of Pediatrics, Aristotle University Thessaloniki, Hippocratio General Hospital, Thessaloniki