Screening for genetic mutations in children and adolescents with dyslipidemia: importance of early identification and implications of missed diagnoses

Introduction: Disorders of lipid metabolism caused by genetic mutations, acquired risk factors and risk conditions, or both, are common in children. While some manifest clinical signs and symptoms, children with genetic mutations such as familial hypercholesterolemia are asymptomatic and generally of normal weight. Nonetheless, life-long elevation of cholesterol plays a key role in the initiation and progression of atherosclerosis, starting in childhood, and increases risk of premature cardiovascular disease-related events, such as myocardial infarction and stroke. Areas covered: Genetic mutations and acquired risk factors and conditions that cause dyslipidemia are outlined. Current guidelines for screening, interpretation of test results, implementation of therapy and monitoring are reviewed, and the role of genetic testing is discussed. Expert opinion: In addition to a heart healthy lifestyle, those with inherited disorders of lipid metabolism often benefit from timely medical intervention to reduce or postpone morbidity and avoid premature mortality. The ability to identify this vulnerable population creates the opportunity to prevent development of premature cardiovascular disease-related events by effective management of genetic and acquired risk factors. As universal cholesterol screening of children becomes standard practice, healthcare professionals need to be familiar with the care and follow-up of those at moderate to high risk.