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Review Article
Update on Familial Hypercholesterolemia: Diagnosis, Cardiovascular Risk, and Novel Therapeutics
Sang-Hak Lee
Endocrinol Metab. 2017;32(1):36-40.   Published online January 19, 2017
DOI: https://doi.org/10.3803/EnM.2017.32.1.36
  • 4,034 View
  • 57 Download
  • 11 Web of Science
  • 10 Crossref
AbstractAbstract PDFPubReader   

In recent studies, the reported prevalence of heterozygous familial hypercholesterolemia (FH) has been higher than in previous reports. Although cascade genetic screening is a good option for efficient identification of affected patients, diagnosis using only clinical criteria is more common in real clinical practice. Cardiovascular risk is much higher in FH patients due to longstanding low density lipoprotein cholesterol (LDL-C) burden and is also influenced by other risk factors. Although guidelines emphasize aggressive LDL-C reduction, the majority of patients cannot reach the LDL-C goal by conventional pharmacotherapy. Novel therapeutics such as proprotein convertase subtilisin/kexin type 9 inhibitors have shown strong lipid lowering efficacy and are expected to improve treatment results in FH patients.

Citations

Citations to this article as recorded by  
  • Effectiveness and Safety of a Fixed-Dose Combination of Valsartan and Rosuvastatin (Rovatitan® Tablet) in Patients with Concomitant Hypertension and Hyperlipidemia: An Observational Study
    Kwang Je Lee, Jae-Kean Ryu, Yun-Hyeong Cho, Won Yong Shin, Jeong Su Kim, Young Won Yoon, Ji Yong Jang, Won Ho Kim, Jong Wook Beom, Seok-Min Kang
    Drug Design, Development and Therapy.2023; Volume 17: 1047.     CrossRef
  • Role of PCSK9 Inhibitors in Patients with Familial Hypercholesterolemia
    Brian Tomlinson, Nivritti Gajanan Patil, Manson Fok, Christopher Wai Kei Lam
    Endocrinology and Metabolism.2021; 36(2): 279.     CrossRef
  • Identification and Functional Characterization of a Low-Density Lipoprotein Receptor Gene Pathogenic Variant in Familial Hypercholesterolemia
    Hong-Yan Shu, Wei Zhang, Cong-Cong Zheng, Man-Yun Gao, Yong-Cun Li, Yan-Gang Wang
    Frontiers in Genetics.2021;[Epub]     CrossRef
  • Gut Microbiota and Complications of Type-2 Diabetes
    Camelia Oana Iatcu, Aimee Steen, Mihai Covasa
    Nutrients.2021; 14(1): 166.     CrossRef
  • LDLR Gene Mutation p.Asp360His and Familial Hypercholesterolemia in a Mexican Community
    Teresita De Jesús Hernández Flores, Juan Ramón González García, Yoaly Josefina Sánchez López, Norma Alejandra Vázquez Cárdenas, Ana Gabriela Colima Fausto, Sergio Yair Rodríguez Preciado, María Teresa Magaña Torres
    Archives of Medical Research.2020; 51(2): 153.     CrossRef
  • A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient
    Lilla Juhász, István Balogh, László Madar, Beáta Kovács, Mariann Harangi
    Cureus.2020;[Epub]     CrossRef
  • Efficacy and Safety of a Fixed-Dose Combination of Candesartan and Rosuvastatin on Blood Pressure and Cholesterol in Patients With Hypertension and Hypercholesterolemia: A Multicenter, Randomized, Double-Blind, Parallel Phase III Clinical Study
    Kyoung Im Cho, Bo Hyun Kim, Yong Hyun Park, Jeong-Cheon Ahn, Sang Hyun Kim, Wook Jin Chung, Weon Kim, Il Suk Sohn, Jin Ho Shin, Yong Jin Kim, Kiyuk Chang, Cheol Woong Yu, Soe Hee Ahn, Seok Yeon Kim, Jae Kean Ryu, Jong Young Lee, Bum Kee Hong, Taek Jong Ho
    Clinical Therapeutics.2019; 41(8): 1508.     CrossRef
  • Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia
    Mary P. McGowan, Seyed Hamed Hosseini Dehkordi, Patrick M. Moriarty, P. Barton Duell
    Journal of the American Heart Association.2019;[Epub]     CrossRef
  • Autosomal recessive hypercholesterolemia: Case report
    Zaneta Petrulioniene, Urte Gargalskaite, Violeta Mikstiene, Rimvydas Norvilas, Egle Skiauteryte, Algirdas Utkus
    Journal of Clinical Lipidology.2019; 13(6): 887.     CrossRef
  • Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population
    Khalid Khalaf Alharbi, May Salem Alnbaheen, Fawiziah Khalaf Alharbi, Rana M. Hasanato, Imran Ali Khan
    Annals of Saudi Medicine.2017; 37(6): 425.     CrossRef
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Original Article
Obesity and Metabolism
Sex Factors in the Metabolic Syndrome as a Predictor of Cardiovascular Disease
Sunghwan Suh, Jongha Baek, Ji Cheol Bae, Kyoung-Nyoun Kim, Mi Kyoung Park, Duk Kyu Kim, Nam H. Cho, Moon-Kyu Lee
Endocrinol Metab. 2014;29(4):522-529.   Published online December 29, 2014
DOI: https://doi.org/10.3803/EnM.2014.29.4.522
  • 4,681 View
  • 37 Download
  • 16 Web of Science
  • 17 Crossref
AbstractAbstract PDFPubReader   
Background

Metabolic syndrome (MetS) is a condition characterized by a cluster of metabolic disorders and is associated with increased risk of cardiovascular disease (CVD). This study analyzed data from the Korean Health and Genome Study to examine the impact of MetS on CVD.

Methods

A total of 8,898 subjects (4,241 males and 4,657 females), 40 to 69 years of age, were enrolled and evaluated for the development of new onset CVD from 2001 to 2012 (median 8.1 years of follow-up).

Results

The prevalence of MetS at baseline was 22.0% (932/4,241) and 29.7% (1,383/4,657) in males and females, respectively. MetS was associated with increased risk of coronary heart disease (CHD; hazard ratio [HR], 1.818; 95% confidence interval [CI], 1.312 to 2.520 in males; HR, 1.789; 95% CI, 1.332 to 2.404 in females) and CVD (HR, 1.689; 95% CI, 1.295 to 2.204 in males; HR, 1.686; 95% CI, 1.007 to 2.192 in females). Specifically, MetS was associated with risk of future stroke in females only (HR, 1.486; 95% CI, 1.007 to 2.192). Among MetS components, abdominal obesity and hypertension were independent predictors of both CHD and CVD. In addition, a higher number of MetS components correlated with higher CVD risk.

Conclusion

MetS is a significant risk factor for the development of CVD although its impact varies between sexes.

Citations

Citations to this article as recorded by  
  • Cardiovascular age of workers with different employment categories
    Byung-Kook Lee, Jaeouk Ahn, Nam-Soo Kim, Jungsun Park, Yangho Kim
    Archives of Environmental & Occupational Health.2022; 77(3): 243.     CrossRef
  • Effects of Anthocyanin-rich Berries on the Risk of Metabolic Syndrome: A Systematic Review and Meta-analysis
    Mikkel Roulund Wilken, Max Norman Tandrup Lambert, Christine Bodelund Christensen, Per Bendix Jeppesen
    Review of Diabetic Studies.2022; 18(1): 42.     CrossRef
  • Rate and risk factors of metabolic components and component combinations according to hypertension status in Tibetans in a cross-sectional study
    Jihong Hu, Brian Thompson, Shuxia Wang, Minhao Guo, Chunjuan Yan, Fengfeng Ding, Peng Guo, Li Chen, Zhuoma Cao, Jianzong Wang
    Medicine.2022; 101(43): e31320.     CrossRef
  • Gender differences in changes in metabolic syndrome status and its components and risk of cardiovascular disease: a longitudinal cohort study
    Azra Ramezankhani, Fereidoun Azizi, Farzad Hadaegh
    Cardiovascular Diabetology.2022;[Epub]     CrossRef
  • The Association of Metabolic Syndrome with the development of cardiovascular disease among Kazakhs in remote rural areas of Xinjiang, China: a cohort study
    Wenwen Yang, Shuxia Guo, Haixia Wang, Yu Li, Xianghui Zhang, Yunhua Hu, Heng Guo, Kui Wang, Yizhong Yan, Jingyu Zhang, Jiaolong Ma, Lei Mao, Lati Mu, Jiaming Liu, Yanpeng Song, Changjing Li, Zhuo Ma, Rulin Ma, Jia He
    BMC Public Health.2021;[Epub]     CrossRef
  • Serum Arylsulfatase and Acid Phosphatase Activity in Patients with Metabolic Syndrome as a Result of Oxidative Damage to Lysosomes
    Dorota M. Olszewska-Słonina
    Protein & Peptide Letters.2021; 28(11): 1246.     CrossRef
  • Validation of Risk Prediction Models for Atherosclerotic Cardiovascular Disease in a Prospective Korean Community-Based Cohort
    Jae Hyun Bae, Min Kyong Moon, Sohee Oh, Bo Kyung Koo, Nam Han Cho, Moon-Kyu Lee
    Diabetes & Metabolism Journal.2020; 44(3): 458.     CrossRef
  • The Prevalence of Obesity and Metabolic Syndrome in the Korean Military Compared with the General Population
    Jung Hwan Lee, Da Hea Seo, Min Jung Nam, Geon Hui Lee, Dong Hee Yang, Min Joo Lee, Ung-Rim Choi, Seongbin Hong
    Journal of Korean Medical Science.2018;[Epub]     CrossRef
  • Relationship between serum bilirubin levels and cardiovascular disease
    Sunghwan Suh, Young Rak Cho, Mi Kyoung Park, Duk Kyu Kim, Nam H. Cho, Moon-Kyu Lee, Christian Herder
    PLOS ONE.2018; 13(2): e0193041.     CrossRef
  • Comparison Between Metabolic Syndrome and the Framingham Risk Score as Predictors of Cardiovascular Diseases Among Kazakhs in Xinjiang
    Wenwen Yang, Rulin Ma, Xianghui Zhang, Heng Guo, Jia He, Lei Mao, Lati Mu, Yunhua Hu, Yizhong Yan, Jiaming Liu, Jiaolong Ma, Shugang Li, Yusong Ding, Mei Zhang, Jingyu Zhang, Shuxia Guo
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  • Impact of interactions among metabolic syndrome components on the development of cardiovascular disease among Kazakhs in Xinjiang
    Wenwen Yang, Xiang Gao, Xianghui Zhang, Yunhua Hu, Heng Guo, Kui Wang, Yizhong Yan, Jia He, Jingyu Zhang, Jiaolong Ma, Lei Mao, Lati Mu, Jiaming Liu, Shugang Li, Yusong Ding, Mei Zhang, Rulin Ma, Shuxia Guo, Mahesh Narayan
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    Journal of the Korean Medical Association.2017; 60(9): 746.     CrossRef
  • Metabolic Syndrome Is a Strong Risk Factor for Minor Ischemic Stroke and Subsequent Vascular Events
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    Won-Young Lee
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