Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated plasma levels of low density lipoprotein cholesterol (LDL-C) and high risk of premature atherosclerotic cardiovascular disease (ASCVD). HoFH is caused by pathogenic variants in several genes, such as LDLR, APOB and PCSK9 responsible for autosomal dominant hypercholesterolemia (ADH) and LDLRAP1 responsible for autosomal recessive hypercholesterolemia (ARH). Aim of this study was the review of the clinical and molecular features of patients with HoFH identified in Italy from 1989 to 2019.

Source: Atherosclerosis - September 7, 2020 Category: Cardiology Authors: Stefano Bertolini, Sebastiano Calandra, Marcello Arca, Maurizio Averna, Alberico L. Catapano, Patrizia Tarugi, The ItalianStudy Group of Homozygous Familial Hypercholesterolemia Source Type: research