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New Trends and Therapies for Familial Hypercholesterolemia

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...

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Autores principales: Alnouri, Fahad, Santos, Raul D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9696955/
https://www.ncbi.nlm.nih.gov/pubmed/36431115
http://dx.doi.org/10.3390/jcm11226638
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author Alnouri, Fahad
Santos, Raul D.
author_facet Alnouri, Fahad
Santos, Raul D.
author_sort Alnouri, Fahad
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description 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.
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spelling pubmed-96969552022-11-26 New Trends and Therapies for Familial Hypercholesterolemia Alnouri, Fahad Santos, Raul D. J Clin Med Review 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. MDPI 2022-11-09 /pmc/articles/PMC9696955/ /pubmed/36431115 http://dx.doi.org/10.3390/jcm11226638 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Alnouri, Fahad
Santos, Raul D.
New Trends and Therapies for Familial Hypercholesterolemia
title New Trends and Therapies for Familial Hypercholesterolemia
title_full New Trends and Therapies for Familial Hypercholesterolemia
title_fullStr New Trends and Therapies for Familial Hypercholesterolemia
title_full_unstemmed New Trends and Therapies for Familial Hypercholesterolemia
title_short New Trends and Therapies for Familial Hypercholesterolemia
title_sort new trends and therapies for familial hypercholesterolemia
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9696955/
https://www.ncbi.nlm.nih.gov/pubmed/36431115
http://dx.doi.org/10.3390/jcm11226638
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