{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T08:20:09Z","timestamp":1793262009304,"version":"4.5.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T00:00:00Z","timestamp":1728345600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T00:00:00Z","timestamp":1728345600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>We assessed long-term real-world effectiveness and safety of lomitapide in patients with homozygous familial hypercholesterolemia (HoFH).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Retrospective case series of six patients with HoFH treated with lomitapide in an Italian clinic. Changes in low-density lipoprotein cholesterol (LDL-C) during lomitapide treatment were assessed. The effect on LDL-C of PCSK9 inhibitors, apheresis and lomitapide was evaluated. Additionally, high-density lipoprotein cholesterol (HDL-C), gastrointestinal tolerability, hepatic steatosis\/elasticity, transaminases, and cardiovascular events and symptoms were assessed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Median age at HoFH clinical and molecular diagnoses was 25 (range 2\u201349) and 40 (29\u201371) years, respectively. Five (83.3%) had prior cardiovascular events. One patient received apheresis, which was subsequently discontinued. All patients received PCSK9 inhibitors but discontinued due to minimal effectiveness. Median (range) age at lomitapide initiation was 44 (28\u201373) years, with a median 47 (18\u201385) months\u2019 treatment (mean dose 17.5 [5\u201340] mg\/day). Mean (SD) baseline LDL-C was 263.2 (148.1) mg\/dL, which decreased by 80% at nadir (52.8 [19.2] mg\/dL) and 69% at last follow-up (81.3 [30.5] mg\/dL). Four patients (66.7%) achieved LDL-C\u2009&lt;\u200970\u00a0mg\/dL sometime during follow-up, all of whom also achieved LDL-C\u2009&lt;\u200955\u00a0mg\/dL. Adverse events (AEs) were generally mild to moderate, hepatic steatosis was either absent or mild\/moderate and hepatic elasticity remained normal in all but two patients (&gt;\u200970 years old). All patients with reported cardiovascular symptoms had improvements in symptoms, and all patients reported stabilization or regression of intima-media thickness and atheromatous plaques.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These long-term, real-world data demonstrate that lomitapide substantially reduced LDL-C for up to seven years. Most patients achieved LDL-C goal at some point, consistent with published Phase III trial and real-world evidence data. No patient discontinued lomitapide treatment. Further long-term follow-up in a larger patient population will be important to determine cardiovascular and other outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03374-9","type":"journal-article","created":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T06:18:57Z","timestamp":1728368337000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Long-term effectiveness and safety of lomitapide in patients with homozygous familial hypercholesterolemia: an observational case series"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3146-9173","authenticated-orcid":false,"given":"Patrizia","family":"Suppressa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-7843-4400","authenticated-orcid":false,"given":"Chiara","family":"Coppola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-6967-9122","authenticated-orcid":false,"given":"Veronica","family":"Cocco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sallyann","family":"O\u2019Brien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,10,8]]},"reference":[{"issue":"22","key":"3374_CR1","doi-asserted-by":"publisher","first-page":"1742","DOI":"10.1161\/circulationaha.119.044795","volume":"2","author":"P Hu","year":"2020","unstructured":"Hu P, Dharmayat KI, Stevens CAT, et al. 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The analysis was performed in accordance with the Declaration of Helsinki and written informed consent was obtained for all patients.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Patrizia Suppressa, Chiara Coppola and Veronica Cocco declare no conflicts of interest. Sallyann O\u2019Brien is an employee of Chiesi Pharmaceuticals, Dublin, Ireland.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"370"}}