New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience.

ABSTRACT: Familial hypercholesterolemia (FH) is a genetic disease, usually with onset during childhood, characterized by elevated blood LDL cholesterol levels and potentially associated with severe cardiovascular complications. Concerning mutated genes in FH, such as LDLR, a small subset of FH patients presents a homozygous genotype, resulting in homozygous FH (HoFH) disease with a generally aggressive phenotype. Besides statins, ezetimibe and PCSK9 inhibitors, lomitapide (an anti-ApoB therapy) was also approved in 2012-2013 as an adjunctive treatment for HoFH. Despite its clinical efficacy, lomitapide administration should be done with caution because of the possible occurrence of side effects, such as hepatosteatosis, increased blood transaminase levels and gastrointestinal symptoms, as wel

SUBMITTER: Iannuzzo G 

PROVIDER: S-EPMC11703714 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature