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Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease
Cholesterol is an essential component of cell barrier formation and signaling transduction involved in many essential physiologic processes. For this reason, cholesterol metabolism must be tightly controlled. Cell cholesterol is mainly acquired from two sources: Dietary cholesterol, which is absorbe...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275065/ https://www.ncbi.nlm.nih.gov/pubmed/30388787 http://dx.doi.org/10.3390/ijms19113426 |
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author | Benito-Vicente, Asier Uribe, Kepa B. Jebari, Shifa Galicia-Garcia, Unai Ostolaza, Helena Martin, Cesar |
author_facet | Benito-Vicente, Asier Uribe, Kepa B. Jebari, Shifa Galicia-Garcia, Unai Ostolaza, Helena Martin, Cesar |
author_sort | Benito-Vicente, Asier |
collection | PubMed |
description | Cholesterol is an essential component of cell barrier formation and signaling transduction involved in many essential physiologic processes. For this reason, cholesterol metabolism must be tightly controlled. Cell cholesterol is mainly acquired from two sources: Dietary cholesterol, which is absorbed in the intestine and, intracellularly synthesized cholesterol that is mainly synthesized in the liver. Once acquired, both are delivered to peripheral tissues in a lipoprotein dependent mechanism. Malfunctioning of cholesterol metabolism is caused by multiple hereditary diseases, including Familial Hypercholesterolemia, Sitosterolemia Type C and Niemann-Pick Type C1. Of these, familial hypercholesterolemia (FH) is a common inherited autosomal co-dominant disorder characterized by high plasma cholesterol levels. Its frequency is estimated to be 1:200 and, if untreated, increases the risk of premature cardiovascular disease. This review aims to summarize the current knowledge on cholesterol metabolism and the relation of FH to cholesterol homeostasis with special focus on the genetics, diagnosis and treatment. |
format | Online Article Text |
id | pubmed-6275065 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-62750652018-12-15 Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease Benito-Vicente, Asier Uribe, Kepa B. Jebari, Shifa Galicia-Garcia, Unai Ostolaza, Helena Martin, Cesar Int J Mol Sci Review Cholesterol is an essential component of cell barrier formation and signaling transduction involved in many essential physiologic processes. For this reason, cholesterol metabolism must be tightly controlled. Cell cholesterol is mainly acquired from two sources: Dietary cholesterol, which is absorbed in the intestine and, intracellularly synthesized cholesterol that is mainly synthesized in the liver. Once acquired, both are delivered to peripheral tissues in a lipoprotein dependent mechanism. Malfunctioning of cholesterol metabolism is caused by multiple hereditary diseases, including Familial Hypercholesterolemia, Sitosterolemia Type C and Niemann-Pick Type C1. Of these, familial hypercholesterolemia (FH) is a common inherited autosomal co-dominant disorder characterized by high plasma cholesterol levels. Its frequency is estimated to be 1:200 and, if untreated, increases the risk of premature cardiovascular disease. This review aims to summarize the current knowledge on cholesterol metabolism and the relation of FH to cholesterol homeostasis with special focus on the genetics, diagnosis and treatment. MDPI 2018-11-01 /pmc/articles/PMC6275065/ /pubmed/30388787 http://dx.doi.org/10.3390/ijms19113426 Text en © 2018 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Benito-Vicente, Asier Uribe, Kepa B. Jebari, Shifa Galicia-Garcia, Unai Ostolaza, Helena Martin, Cesar Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease |
title | Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease |
title_full | Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease |
title_fullStr | Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease |
title_full_unstemmed | Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease |
title_short | Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease |
title_sort | familial hypercholesterolemia: the most frequent cholesterol metabolism disorder caused disease |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275065/ https://www.ncbi.nlm.nih.gov/pubmed/30388787 http://dx.doi.org/10.3390/ijms19113426 |
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