MOLECULAR ASPECTS OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA IN IBERO-AMERICAN COUNTRIES

Background and Aims: Homozygous Familial Hypercholesterolemia (HoFH) is a rare disorder, affecting 1 in 300,000 to 1,000,000 people in the general population. It is estimated that there are 600 to 1,800 HoFH in the Ibero-America, most of them not diagnosed and/or not treated adequately. The objective of this work is to describe molecular characteristics of HoFH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay.