Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels * , **

被引:61
作者
Bianconi, Vanessa [1 ]
Banach, Maciej [2 ,3 ]
Pirro, Matteo [1 ]
机构
[1] Univ Perugia, Hosp Santa Maria Misericordia, Dept Med, Unit Internal Med, Piazzale Menghini 1, I-06129 Perugia, Italy
[2] Med Univ Lodz, WAM Univ Hosp Lodz, Dept Hypertens, Chair Nephrol & Hypertens, Zeromskiego 113, PL-90549 Lodz, Poland
[3] Polish Mothers Mem Hosp Res Inst PMMHRI, Lodz, Poland
关键词
Familial hypercholesterolemia; LDL-C; Cardiovascular; Risk; Predictor; Genetic; Phenotype; CORONARY-HEART-DISEASE; LOW-DENSITY-LIPOPROTEIN; STATIN-TREATED PATIENTS; INTIMA-MEDIA THICKNESS; ASSOCIATION EXPERT PANEL; ARTERY-DISEASE; SUBCLINICAL ATHEROSCLEROSIS; ELEVATED LIPOPROTEIN(A); ENDOTHELIAL DYSFUNCTION; ALL-CAUSE;
D O I
10.1016/j.tcm.2020.03.004
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Familial hypercholesterolemia (FH) is a common genetic cause of elevated low-density lipoprotein cholesterol (LDL-C) due to defective clearance of circulating LDL particles. All FH patients are at high risk for premature cardiovascular disease (CVD) events due to their genetically determined lifelong exposure to high LDL-C levels. However, different rates of CVD events have been reported in FH patients, even among those with the same genetic mutations and comparable LDL-C levels. Hence, additional CVD risk modifiers, beyond LDL-C, may contribute to increase CVD risk in the FH population. In this review, we discuss the overall CVD risk burden of the FH population. Additionally, we revise the prognostic impact of several traditional and emerging predictors of CVD risk and we provide an overview of the role of specific tools to stratify CVD risk in FH patients in order to ensure them a more personalized treatment approach. @& nbsp;2020 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY license. ( http://creativecommons.org/licenses/by/4.0/ )
引用
收藏
页码:205 / 215
页数:11
相关论文
共 123 条
[1]   Diagnostic performance of various familial hypercholesterolaemia diagnostic criteria compared to Dutch lipid clinic criteria in an Asian population [J].
Abdul-Razak, Suraya ;
Rahmat, Radzi ;
Kasim, Alicezah Mohd ;
Rahman, Thuhairah Abdul ;
Muid, Suhaila ;
Nasir, Nadzimah Mohd ;
Ibrahim, Zubin ;
Kasim, Sazzli ;
Ismail, Zaliha ;
Ghani, Rohana Abdul ;
Sanusi, Abdul Rais ;
Rosman, Azhari ;
Nawawi, Hapizah .
BMC CARDIOVASCULAR DISORDERS, 2017, 17
[2]   Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis [J].
Akioyamen, Leo E. ;
Genest, Jacques ;
Shan, Shubham D. ;
Reel, Rachel L. ;
Albaum, Jordan M. ;
Chu, Anna ;
Tu, Jack V. .
BMJ OPEN, 2017, 7 (09)
[3]   Risk stratification of patients with familial hypercholesterolemia in a multi-ethnic cohort [J].
Allard, Matthew D. ;
Saeedi, Ramesh ;
Yousefi, Masoud ;
Frohlich, Jiri .
LIPIDS IN HEALTH AND DISEASE, 2014, 13
[4]   Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors [J].
Alonso, R. ;
Mata, N. ;
Castillo, S. ;
Fuentes, F. ;
Saenz, P. ;
Muniz, O. ;
Galiana, J. ;
Figueras, R. ;
Diaz, J. L. ;
Gomez-Enterria, P. ;
Mauri, M. ;
Piedecausa, M. ;
Irigoyen, L. ;
Aguado, R. ;
Mata, P. .
ATHEROSCLEROSIS, 2008, 200 (02) :315-321
[5]   Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN) [J].
Averna, Maurizio ;
Cefalu, Angelo B. ;
Casula, Manuela ;
Noto, Davide ;
Arca, Marcello ;
Bertolini, Stefano ;
Calandra, Sebastiano ;
Catapano, Alberico L. ;
Tarugi, Patrizia .
ATHEROSCLEROSIS SUPPLEMENTS, 2017, 29 :11-16
[6]   Association between phenotypic familial hypercholesterolaemia and telomere length in US adults: results from a multi-ethnic survey [J].
Banach, Maciej ;
Mazidi, Mohsen ;
Mikhailidis, Dimitri P. ;
Toth, Peter P. ;
Jozwiak, Jacek ;
Rysz, Jacek ;
Watts, Gerald F. .
EUROPEAN HEART JOURNAL, 2018, 39 (40) :3635-3640
[7]   High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry OCR [J].
Beliard, Sophie ;
Boccara, Franck ;
Cariou, Bertrand ;
Carrie, Alain ;
Collet, Xavier ;
Farnier, Michel ;
Ferrieres, Jean ;
Krempf, Michael ;
Peretti, Noel ;
Rabes, Jean-Pierre ;
Varret, Mathilde ;
Vimont, Alexandre ;
Charriere, Sybil ;
Bruckert, Eric .
ATHEROSCLEROSIS, 2018, 277 :334-340
[8]   Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication [J].
Benn, Marianne ;
Watts, Gerald F. ;
Tybjaerg-Hansen, Anne ;
Nordestgaard, Borge G. .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, 97 (11) :3956-3964
[9]   Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia [J].
Bertolini, S ;
Pisciotta, L ;
Di Scala, L ;
Langheim, S ;
Bellocchio, AB ;
Masturzo, P ;
Cantafora, A ;
Martini, S ;
Averna, M ;
Pes, G ;
Stefanutti, C ;
Calandra, S .
ATHEROSCLEROSIS, 2004, 174 (01) :57-65
[10]   Association Between Familial Hypercholesterolemia and Prevalence of Type 2 Diabetes Mellitus [J].
Besseling, Joost ;
Kastelein, John J. P. ;
Defesche, Joep C. ;
Hutten, Barbara A. ;
Hovingh, G. Kees .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2015, 313 (10) :1029-1036