{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T00:55:52Z","timestamp":1792457752876,"version":"4.5.0"},"reference-count":27,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,12,24]],"date-time":"2024-12-24T00:00:00Z","timestamp":1734998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100018293","name":"Amryt Pharma","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018293","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>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 <jats:italic>LDLR<\/jats:italic>, 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\u20132013 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.<\/jats:p>","DOI":"10.3389\/fendo.2024.1515846","type":"journal-article","created":{"date-parts":[[2024,12,24]],"date-time":"2024-12-24T05:11:18Z","timestamp":1735017078000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience"],"prefix":"10.3389","volume":"15","author":[{"given":"Gabriella","family":"Iannuzzo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilenia Lorenza","family":"Calcaterra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Gentile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Stanzione","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"de Ruberto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Donata","family":"di Taranto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Cardiero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuliana","family":"Fortunato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo Di","family":"Minno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,12,24]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"17093","DOI":"10.1038\/nrdp.2017.93","article-title":"Familial hypercholesterolaemia","volume":"3","author":"Defesche","year":"2017","journal-title":"Nat Rev Dis Primers"},{"key":"B2","doi-asserted-by":"publisher","first-page":"64","DOI":"10.3390\/ph16010064","article-title":"Current treatment options in homozygous familial hypercholesterolemia","volume":"16","author":"Kayikcioglu","year":"2022","journal-title":"Pharmaceuticals"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(21)02001-8","article-title":"Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study","volume":"399","author":"Tromp","year":"2022","journal-title":"Lancet"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1097\/MOL.0000000000000853","article-title":"New algorithms for treating homozygous familial hypercholesterolemia","volume":"33","author":"Tromp","year":"2022","journal-title":"Curr Opin Lipidol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61731-0","article-title":"Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study","volume":"381","author":"Cuchel","year":"2013","journal-title":"Lancet"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1007\/s12325-019-00985-8","article-title":"Real-world outcomes with lomitapide use in paediatric patients with homozygous familial hypercholesterolaemia","volume":"36","author":"Ben-Omran","year":"2019","journal-title":"Adv Ther"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1093\/eurjpc\/zwae036","article-title":"Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry","volume":"31","author":"D\u2019Erasmo","year":"2024","journal-title":"Eur J Prevent Cardiol"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1111\/liv.15497","article-title":"Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia","volume":"43","author":"Larrey","year":"2023","journal-title":"Liver Int"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacl.2020.08.006","article-title":"Long-term safety and efficacy of lomitapide in patients with homozygous familial hypercholesterolemia: Five-year data from the Lomitapide Observational Worldwide Evaluation Registry (LOWER)","volume":"14","author":"Underberg","year":"2020","journal-title":"J Clin Lipidol"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehu274","article-title":"Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. 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