{"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":1783475894037,"version":"3.55.0"},"reference-count":83,"publisher":"MDPI AG","issue":"22","license":[{"start":{"date-parts":[[2022,11,9]],"date-time":"2022-11-09T00:00:00Z","timestamp":1667952000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development","doi-asserted-by":"publisher","award":["303734\/2018-3"],"award-info":[{"award-number":["303734\/2018-3"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Familial hypercholesterolemia (FH) is associated with an elevated risk of atherosclerosis. The finding of monogenic defects indicates higher atherosclerotic risk in comparison with hypercholesterolemia of other etiologies. However, in heterozygous FH, cardiovascular risk is heterogeneous and depends not only on high cholesterol levels but also on the presence of other biomarkers and genes. The development of atherosclerosis risk scores specific for heterozygous FH and the use of subclinical coronary atherosclerosis imaging help with identifying higher-risk individuals who may benefit from further cholesterol lowering with PCSK9 inhibitors. There is no question about the extreme high risk in homozygous FH, and intensive LDL-cholesterol-lowering therapy must be started as soon as possible. These patients have gained life free of events in comparison with the past, but a high atherosclerosis residual risk persists. Furthermore, there is also the issue of aortic and supra-aortic valve disease development. Newer therapies such as inhibitors of microsomal transfer protein and angiopoietin-like protein 3 have opened the possibility of LDL-cholesterol normalization in homozygous FH and may provide an alternative to lipoprotein apheresis for these patients. Gene-based therapies may provide more definite solutions for lowering high LDL cholesterol and consequent atherosclerosis risk for people with FH.<\/jats:p>","DOI":"10.3390\/jcm11226638","type":"journal-article","created":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T02:07:48Z","timestamp":1668046068000},"page":"6638","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["New Trends and Therapies for Familial Hypercholesterolemia"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2315-8367","authenticated-orcid":false,"given":"Fahad","family":"Alnouri","sequence":"first","affiliation":[{"name":"Cardiovascular Prevention Unit, Department of Adult Cardiology, Prince Sultan Cardiac Centre, Riyadh 12233, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9860-6582","authenticated-orcid":false,"given":"Raul D.","family":"Santos","sequence":"additional","affiliation":[{"name":"Lipid Clinic Heart Institute (InCor), Medical School Hospital, University of Sao Paulo, Sao Paulo 05403-000, Brazil"},{"name":"Academic Research Organization, Hospital Israelita Albert Einstein, Sao Paulo 05652-900, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2578","DOI":"10.1016\/j.jacc.2016.03.520","article-title":"Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients with Severe Hypercholesterolemia","volume":"67","author":"Khera","year":"2016","journal-title":"J. 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