FAMILIAL HYPERCHOLESTEROLEMIA (FH) IN CHILDREN AND ADOLESCENTS: OPTIMIZATION OF DETECTION FOR EARLY TREATMENT

The Familial Hypercholesterolemia (FH) is the most common co-autosomal dominant inherited condition in man. It is mainly caused by mutations in the following three genes: the encoding: the receiver of low-density lipoprotein LDL-C (most common), or apolipoprotein B100 proprotein convertase subutilisina / kexina type 9 (PCSK-9). The resulting chronic elevations in LDL-C levels entail the development of early atherosclerotic cardiovascular disease. The overall estimated prevalence for heterozygous HF ranges from about 1 / 200-250 1/500 and homozygous FH is 1/1 000 000. The childhood is the ideal period of life to discriminate between dyslipidemias FH and not FH. serum LDL-C≥190 mg / dL (2 measures up to 3 months), or LDL-C≥160 mg / dL with a family history of premature coronary disease or high levels of cholesterol increased basal in a parent or LDL -C≥130 mg / dL with positive genetic diagnosis in families may be used as the phenotypic criteria for diagnosis. It is the aim of this study make the early diagnosis of HF in a population sample of children, adolescents and adults Brazilian city of Campinas / SP.