Familial Hypercholesterolemia: Do HDL Play a Role?
Cardiovascular disease (CVD) in heterozygous familial hypercholesterolemia (HeFH), the most frequent monogenic disorder of human metabolism, is largely driven by low-density lipoprotein (LDL) cholesterol concentrations. Since the CVD rate differs considerably in this population, beyond the lifetime...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-07-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/9/7/810 |
| _version_ | 1827687866207043584 |
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| author | Juan Pedro-Botet Elisenda Climent David Benaiges |
| author_facet | Juan Pedro-Botet Elisenda Climent David Benaiges |
| author_sort | Juan Pedro-Botet |
| collection | DOAJ |
| description | Cardiovascular disease (CVD) in heterozygous familial hypercholesterolemia (HeFH), the most frequent monogenic disorder of human metabolism, is largely driven by low-density lipoprotein (LDL) cholesterol concentrations. Since the CVD rate differs considerably in this population, beyond the lifetime LDL cholesterol vascular accumulation, other classical risk factors are involved in the high cardiovascular risk of HeFH. Among other lipoprotein disturbances, alterations in the phenotype and functionality of high-density lipoproteins (HDL) have been described in HeFH patients, contributing to the presence and severity of CVD. In fact, HDL are the first defensive barrier against the burden of high LDL cholesterol levels owing to their contribution to reverse cholesterol transport as well as their antioxidant and anti-inflammatory properties, among others. In this context, the present narrative review aimed to focus on quantitative and qualitative abnormalities in HDL particles in HeFH, encompassing metabolic, genetic and epigenetic aspects. |
| first_indexed | 2024-03-10T09:44:58Z |
| format | Article |
| id | doaj.art-5ce7ac5b33934a63b9499cc405a091ab |
| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-10T09:44:58Z |
| publishDate | 2021-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-5ce7ac5b33934a63b9499cc405a091ab2023-11-22T03:17:26ZengMDPI AGBiomedicines2227-90592021-07-019781010.3390/biomedicines9070810Familial Hypercholesterolemia: Do HDL Play a Role?Juan Pedro-Botet0Elisenda Climent1David Benaiges2Endocrinology and Nutrition Department, Hospital del Mar, 08003 Barcelona, SpainEndocrinology and Nutrition Department, Hospital del Mar, 08003 Barcelona, SpainEndocrinology and Nutrition Department, Hospital del Mar, 08003 Barcelona, SpainCardiovascular disease (CVD) in heterozygous familial hypercholesterolemia (HeFH), the most frequent monogenic disorder of human metabolism, is largely driven by low-density lipoprotein (LDL) cholesterol concentrations. Since the CVD rate differs considerably in this population, beyond the lifetime LDL cholesterol vascular accumulation, other classical risk factors are involved in the high cardiovascular risk of HeFH. Among other lipoprotein disturbances, alterations in the phenotype and functionality of high-density lipoproteins (HDL) have been described in HeFH patients, contributing to the presence and severity of CVD. In fact, HDL are the first defensive barrier against the burden of high LDL cholesterol levels owing to their contribution to reverse cholesterol transport as well as their antioxidant and anti-inflammatory properties, among others. In this context, the present narrative review aimed to focus on quantitative and qualitative abnormalities in HDL particles in HeFH, encompassing metabolic, genetic and epigenetic aspects.https://www.mdpi.com/2227-9059/9/7/810familial hypercholesterolemiacardiovascular diseasehigh density lipoproteinsHDL functionalitygeneticsepigenetics |
| spellingShingle | Juan Pedro-Botet Elisenda Climent David Benaiges Familial Hypercholesterolemia: Do HDL Play a Role? Biomedicines familial hypercholesterolemia cardiovascular disease high density lipoproteins HDL functionality genetics epigenetics |
| title | Familial Hypercholesterolemia: Do HDL Play a Role? |
| title_full | Familial Hypercholesterolemia: Do HDL Play a Role? |
| title_fullStr | Familial Hypercholesterolemia: Do HDL Play a Role? |
| title_full_unstemmed | Familial Hypercholesterolemia: Do HDL Play a Role? |
| title_short | Familial Hypercholesterolemia: Do HDL Play a Role? |
| title_sort | familial hypercholesterolemia do hdl play a role |
| topic | familial hypercholesterolemia cardiovascular disease high density lipoproteins HDL functionality genetics epigenetics |
| url | https://www.mdpi.com/2227-9059/9/7/810 |
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