Familial Hypercholesterolemia and Lipoprotein(a): A Gordian Knot in Cardiovascular Prevention
Familial hypercholesterolemia (FH) is the most frequent genetic disorder resulting in increased low-density lipoprotein cholesterol (LDL-C) levels from childhood, leading to premature atherosclerotic cardiovascular disease (ASCVD) if left untreated. FH diagnosis is based on clinical criteria and/or...
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MDPI AG
2022-11-01
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| author | Amalia Despoina Koutsogianni Petros Spyridonas Adamidis Fotios Barkas Evangelos Liberopoulos Ta-Chen Su Shizuya Yamashita George Liamis Manfredi Rizzo |
| author_facet | Amalia Despoina Koutsogianni Petros Spyridonas Adamidis Fotios Barkas Evangelos Liberopoulos Ta-Chen Su Shizuya Yamashita George Liamis Manfredi Rizzo |
| author_sort | Amalia Despoina Koutsogianni |
| collection | DOAJ |
| description | Familial hypercholesterolemia (FH) is the most frequent genetic disorder resulting in increased low-density lipoprotein cholesterol (LDL-C) levels from childhood, leading to premature atherosclerotic cardiovascular disease (ASCVD) if left untreated. FH diagnosis is based on clinical criteria and/or genetic testing and its prevalence is estimated as being up to 1:300,000–400,000 for the homozygous and ~1:200–300 for the heterozygous form. Apart from its late diagnosis, FH is also undertreated, despite the available lipid-lowering therapies. In addition, elevated lipoprotein(a) (Lp(a)) (>50 mg/dL; 120 nmol/L), mostly genetically determined, has been identified as an important cardiovascular risk factor with prevalence rate of ~20% in the general population. Novel Lp(a)-lowering therapies have been recently developed and their cardiovascular efficacy is currently investigated. Although a considerable proportion of FH patients is also diagnosed with high Lp(a) levels, there is a debate whether these two entities are associated. Nevertheless, Lp(a), particularly among patients with FH, has been established as a significant cardiovascular risk factor. In this narrative review, we present up-to-date evidence on the pathophysiology, diagnosis, and treatment of both FH and elevated Lp(a) with a special focus on their association and joint effect on ASCVD risk. |
| first_indexed | 2024-03-09T18:50:56Z |
| format | Article |
| id | doaj.art-7bb048e765b5438bbef51a7e38660c86 |
| institution | Directory Open Access Journal |
| issn | 2218-1989 |
| language | English |
| last_indexed | 2024-03-09T18:50:56Z |
| publishDate | 2022-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Metabolites |
| spelling | doaj.art-7bb048e765b5438bbef51a7e38660c862023-11-24T05:50:26ZengMDPI AGMetabolites2218-19892022-11-011211106510.3390/metabo12111065Familial Hypercholesterolemia and Lipoprotein(a): A Gordian Knot in Cardiovascular PreventionAmalia Despoina Koutsogianni0Petros Spyridonas Adamidis1Fotios Barkas2Evangelos Liberopoulos3Ta-Chen Su4Shizuya Yamashita5George Liamis6Manfredi Rizzo7Department of Internal Medicine, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, GreeceDepartment of Internal Medicine, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, GreeceDepartment of Hygiene and Epidemiology, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece1st Propaedeutic Department of Medicine, School of Medicine, National and Kapodistrian University of Athens, Laiko General Hospital, 10679 Athens, GreeceDepartments of Environmental and Occupational Medicine and Internal Medicine, National Taiwan University College of Medicine, National Taiwan University Hospital, Taipei 10617, TaiwanDepartment of Cardiology, Rinku General Medical Center, Rinku Ourai Kita 2-23, Osaka 598-8577, JapanDepartment of Internal Medicine, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, GreeceDepartment of Internal Medicine and Medical Specialties, School of Medicine, University of Palermo, 90133 Palermo, ItalyFamilial hypercholesterolemia (FH) is the most frequent genetic disorder resulting in increased low-density lipoprotein cholesterol (LDL-C) levels from childhood, leading to premature atherosclerotic cardiovascular disease (ASCVD) if left untreated. FH diagnosis is based on clinical criteria and/or genetic testing and its prevalence is estimated as being up to 1:300,000–400,000 for the homozygous and ~1:200–300 for the heterozygous form. Apart from its late diagnosis, FH is also undertreated, despite the available lipid-lowering therapies. In addition, elevated lipoprotein(a) (Lp(a)) (>50 mg/dL; 120 nmol/L), mostly genetically determined, has been identified as an important cardiovascular risk factor with prevalence rate of ~20% in the general population. Novel Lp(a)-lowering therapies have been recently developed and their cardiovascular efficacy is currently investigated. Although a considerable proportion of FH patients is also diagnosed with high Lp(a) levels, there is a debate whether these two entities are associated. Nevertheless, Lp(a), particularly among patients with FH, has been established as a significant cardiovascular risk factor. In this narrative review, we present up-to-date evidence on the pathophysiology, diagnosis, and treatment of both FH and elevated Lp(a) with a special focus on their association and joint effect on ASCVD risk.https://www.mdpi.com/2218-1989/12/11/1065familial hypercholesterolemialipoprotein(a)cardiovascular diseasehypolipidemic treatmentcholesterol |
| spellingShingle | Amalia Despoina Koutsogianni Petros Spyridonas Adamidis Fotios Barkas Evangelos Liberopoulos Ta-Chen Su Shizuya Yamashita George Liamis Manfredi Rizzo Familial Hypercholesterolemia and Lipoprotein(a): A Gordian Knot in Cardiovascular Prevention Metabolites familial hypercholesterolemia lipoprotein(a) cardiovascular disease hypolipidemic treatment cholesterol |
| title | Familial Hypercholesterolemia and Lipoprotein(a): A Gordian Knot in Cardiovascular Prevention |
| title_full | Familial Hypercholesterolemia and Lipoprotein(a): A Gordian Knot in Cardiovascular Prevention |
| title_fullStr | Familial Hypercholesterolemia and Lipoprotein(a): A Gordian Knot in Cardiovascular Prevention |
| title_full_unstemmed | Familial Hypercholesterolemia and Lipoprotein(a): A Gordian Knot in Cardiovascular Prevention |
| title_short | Familial Hypercholesterolemia and Lipoprotein(a): A Gordian Knot in Cardiovascular Prevention |
| title_sort | familial hypercholesterolemia and lipoprotein a a gordian knot in cardiovascular prevention |
| topic | familial hypercholesterolemia lipoprotein(a) cardiovascular disease hypolipidemic treatment cholesterol |
| url | https://www.mdpi.com/2218-1989/12/11/1065 |
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