Skip to main content

ORIGINAL RESEARCH article

Front. Endocrinol.
Sec. Translational and Clinical Endocrinology
Volume 15 - 2024 | doi: 10.3389/fendo.2024.1515846

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

Provisionally accepted
Gabriella Iannuzzo Gabriella Iannuzzo *Ilenia Lorenza Calcaterra Ilenia Lorenza Calcaterra Marco Gentile Marco Gentile Claudia Stanzione Claudia Stanzione Francesca De Ruberto Francesca De Ruberto Maria Donata Di Taranto Maria Donata Di Taranto Giovanna Cardiero Giovanna Cardiero Giuliana Fortunato Giuliana Fortunato Matteo Di Minno Matteo Di Minno
  • University of Naples Federico II, Naples, Italy

The final, formatted version of the article will be published soon.

    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 well as the possible deleterious interactions with other drugs. In this context, we decided to report the main available evidence on the management and monitoring of HoFH patients treated with lomitapide and to accompany this literature review with a description of our clinical experience with a subset of six HoFH patients. In conclusion, this paper aims to address an important topic for HoFH-related clinical practice that, to our knowledge, is not yet formally regulated by proper national and/or international guidelines.

    Keywords: HoFH, Hypercholesterolemia, Lomitapide, Management, Monitoring

    Received: 23 Oct 2024; Accepted: 28 Nov 2024.

    Copyright: © 2024 Iannuzzo, Calcaterra, Gentile, Stanzione, De Ruberto, Donata Di Taranto, Cardiero, Fortunato and Minno. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Gabriella Iannuzzo, University of Naples Federico II, Naples, Italy

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.