{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T01:58:14Z","timestamp":1783475894107,"version":"3.55.0"},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T00:00:00Z","timestamp":1708387200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"LIPIGEN"},{"DOI":"10.13039\/501100009962","name":"SISA Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009962","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>The availability of novel lipid-lowering therapies (LLTs) has remarkably changed the clinical management of homozygous familial hypercholesterolaemia (HoFH). The impact of these advances was evaluated in a cohort of 139 HoFH patients followed in a real-world clinical setting.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>The clinical characteristics of 139 HoFH patients, along with information about LLTs and low-density lipoprotein cholesterol (LDL-C) levels at baseline and after a median follow-up of 5 years, were retrospectively retrieved from the records of patients enrolled in the LIPid transport disorders Italian GEnetic Network-Familial Hypercholesterolaemia (LIPIGEN-FH) Registry. The annual rates of major atherosclerotic cardiovascular events (MACE-plus) during follow-up were compared before and after baseline. Additionally, the lifelong survival free from MACE-plus was compared with that of the historical LIPIGEN HoFH cohort. At baseline, LDL-C level was 332 \u00b1 138\u2005mg\/dL. During follow-up, the potency of LLTs was enhanced and, at the last visit, 15.8% of patients were taking quadruple therapy. Consistently, LDL-C decreased to an average value of 124\u2005mg\/dL corresponding to a 58.3% reduction (Pt &amp;lt; 0.001), with the lowest value (\u223c90\u2005mg\/dL) reached in patients receiving proprotein convertase subtilisin\/kexin type 9 inhibitors and lomitapide and\/or evinacumab as add-on therapies. The average annual MACE-plus rate in the 5-year follow-up was significantly lower than that observed during the 5 years before baseline visit (21.7 vs. 56.5 per 1000 patients\/year; P = 0.0016).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Our findings indicate that the combination of novel and conventional LLTs significantly improved LDL-C control with a signal of better cardiovascular prognosis in HoFH patients. Overall, these results advocate the use of intensive, multidrug LLTs to effectively manage HoFH.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/eurjpc\/zwae036","type":"journal-article","created":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T05:01:14Z","timestamp":1708405274000},"page":"1038-1047","source":"Crossref","is-referenced-by-count":16,"title":["Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry"],"prefix":"10.1093","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9174-4667","authenticated-orcid":false,"given":"Laura","family":"D\u2019Erasmo","sequence":"first","affiliation":[{"name":"Department of Translational and Precision Medicine, Sapienza University of Rome , Viale dell\u2019Universit\u00e0 37, Rome 00185 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Bini","sequence":"additional","affiliation":[{"name":"Department of Translational and Precision Medicine, Sapienza University of Rome , Viale dell\u2019Universit\u00e0 37, Rome 00185 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5124-5361","authenticated-orcid":false,"given":"Manuela","family":"Casula","sequence":"additional","affiliation":[{"name":"IRCCS MultiMedica, Sesto San Giovanni , Milan , Italy"},{"name":"Epidemiology and Preventive Pharmacology Service (SEFAP), Department of Pharmacological and Biomolecular Sciences, University of Milan , Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Gazzotti","sequence":"additional","affiliation":[{"name":"SISA Foundation , Via Balzaretti, 7, 20133 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Bertolini","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Genova , Genova , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastiano","family":"Calandra","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia , Modena , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Tarugi","sequence":"additional","affiliation":[{"name":"Department of Life Sciences, University of Modena and Reggio Emilia , Modena , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3558-9209","authenticated-orcid":false,"given":"Maurizio","family":"Averna","sequence":"additional","affiliation":[{"name":"Department of Health Promotion, Mother and Child Care, Internal Medicine, University of Palermo , Palermo , Italy"},{"name":"Medical Specialties \u2018G. 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