Lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants.

ABSTRACT:

Background

Homozygous familial hypercholesterolemia (HoFH) is a rare inherited disorder of lipoprotein metabolism caused by pathogenic variants in both alleles of key low-density lipoprotein receptor (LDLR)-mediated pathway genes, resulting in very high LDL cholesterol (LDL-C) levels from birth. The microsomal triglyceride transfer protein (MTP) inhibitor lomitapide, is an effective treatment for lowering LDL-C in HoFH that acts independently of LDLR. This study investigated the response to lomitapide treatment and the potential impact of MTTP gene variants in a cohort of patients with HoFH.

Methods

Data were extracted from medical records of patients diagnosed with HoFH and receiving treatment with lomitapide in addition to background statin + ezetimibe + PCSK9 inhibitor th

SUBMITTER: Kolovou G 

PROVIDER: S-EPMC12522312 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature