Familial hypercholesterolemia in children and adolescentsMcCrindle, Brian W.Current Opinion in Lipidology: December 2012 - Volume 23 - Issue 6 - p 525–531 doi: 10.1097/MOL.0b013e3283587522 THERAPY AND CLINICAL TRIALS: Edited by Anton F. Stalenhoef and John Kastelein Abstract Author Information Abstract Purpose of review: This review provides an update and highlights the controversies regarding recent advances and recommendations regarding screening, diagnosis and treatment of children and adolescents with familial hypercholesterolemia. Recent findings: Both general cardiovascular risk and specific familial hypercholesterolemia guidelines for children and adolescents have recently been released. Universal lipid screening of children has been recommended, in addition to targeted screening. The role of genetic testing for targeted screening and diagnostic confirmation is less clear. Although lifestyle therapy remains of key importance, increasing evidence of safety and efficacy support the use of statin therapy. Early therapy has been associated with improvements in noninvasive measures of early atherosclerosis in children, which likely can be extrapolated to improved freedom from cardiovascular disease events over the lifespan, as has been observed in adults. The new guidelines provide general and specific recommendations as to how family history and additional risk factors and risk conditions should be incorporated in decisions regarding initiation of statin therapy at LDL-cholesterol cutpoints. Emerging evidence from observational studies are beginning to address concerns regarding the initiation at young ages and longer-term efficacy and safety. Summary: Children and adolescents with familial hypercholesterolemia can be identified and effective therapy with a statin initiated with consideration of the patients’ overall cardiovascular risk profile, remaining mindful of the uncertainties regarding long-term safety. Author Information Labatt Family Heart Centre, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada Correspondence to Dr Brian W. McCrindle, MD, MPH, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, Canada M5G 1X8. Tel: +1 416 813 7610; fax: +1 416 813 7547; e-mail: firstname.lastname@example.org Copyright © 2012 Wolters Kluwer Health, Inc. All rights reserved.