Screening for unknown hypercholesterolemia in a hospital population: A model for preventive medicine

Aim: The autosomal dominant hypercholesterolemia (ADH) is one of the most frequent monogenic diseases and it ’s strongly related to cardiovascular disease (myocardial infarction, stroke).Genes classically associated with ADH are LDL receptor gene (Familial hypercholesterolemia or FH), Apo B gene (Familial Detective ApoB or FDB) and PCSK9 (FH3). The frequency of heterozygous FH is estimated to be approxim ately 1/200 - 1/500 in general population; so, this disease is one of the most common monogenic syndromes.

Source: Atherosclerosis - August 1, 2017 Category: Cardiology Authors: Roberto Scicali, Roberta Platania, Giacomo Purrazzo, Alberto Giannone, Viviana Ferrara, Francesca Urbano, Agnese Filippello, Salvo Piro, Maria Agata Rabuazzo, Emanuele Farrugia, Venerando Rapisarda, Francesco Purrello Source Type: research