Inherited Dyslipidemia VS Environmental Dyslipidemia in Portuguese Children

Abstract

Hypercholesterolemia is an important cardiovascular risk (CV) factor that can be due to environmental or genetic causes. Identification of a young population with high CV risk allows early intervention and prevention, delaying or abolishing occurrence of CHD in adult life. Familial Hypercholesterolemia (FH) is associated with major risk of CV events and usually results from mutations in three different genes involved in lipid metabolism such as LDLR, APOB and PCSK9 genes. The Portuguese FH Study is established in the National Institute of Health, Lisbon, since 1999 where the biochemical characterization and DNA diagnosis have been performed for patients with clinical diagnosis of FH and cascade screening in relatives of the affected index patients.