Clinical Management of Familial Hypercholesterolemia in Children.

Abstract

Familial Hypercholesterolemia (FH) is one of the best-characterized inborn errors of metabolism, with an estimated prevalence of 1:250 in the general population. Only approximately 10% of the affected subjects are diagnosed and, therefore, under medical care, including drug therapy or, in severe cases, apheresis. Screening at the age of 6-10 years would be useful and cost-effective. There is enough evidence that children and adolescents with FH should be treated in order to reduce elevated Total cholesterol and LDL-c levels and, therefore, avoid the risk of early cardiovascular diseases. As FH was described more than 130 years ago, it is surprising that the knowledge of that very important metabolic disorder is insufficient. The present report describes clinical and pathophysiological characteristics and nutritional and medical therapies in children with familial hypercholesterolemia.