Review
Peripheral Vascular Disease
Marianne Klevmoen, Janneke W. C. M. Mulder, Jeanine E. Roeters van Lennep, Kirsten B. Holven
Summary: This review summarizes research findings on sex differences in familial hypercholesterolemia (FH) across the lifespan. Girls with FH have higher levels of total- and low-density lipoprotein cholesterol (LDL-C) from childhood onward. By the age of 30, women with FH have a higher LDL-C burden compared to men. In adulthood, women are diagnosed later, receive less treatment, and have higher LDL-C levels, leading to an increased risk of atherosclerotic cardiovascular disease.
CURRENT ATHEROSCLEROSIS REPORTS
(2023)
Article
Cardiac & Cardiovascular Systems
Yaodong Wang, Jinchun He
Summary: This study aimed to analyze the correlation between overweight and obesity-related indicators and cardiovascular risk predictors in patients with familial hypercholesterolemia (FH) and to evaluate their mutual predictive properties.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Pharmacology & Pharmacy
Anandita Agarwala, Elena Deych, Laney K. Jones, Amy C. Sturm, Karen Aspry, Zahid Ahmad, Christie M. Ballantyne, Anne C. Goldberg
Summary: This study retrospectively examined the burden and risk factors of premature ASCVD in men and women with FH. The results showed a high prevalence of premature ASCVD in both genders, and significant differences were observed in predictive factors and lipid treatment outcomes for women with premature ASCVD.
JOURNAL OF CLINICAL LIPIDOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Manuel Jesus Romero-Jimenez, Maria Elena Mansilla-Rodriguez, Eva Nadiejda Gutierrez-Cortizo
Summary: Familial hypercholesterolemia patients have heterogeneous risk of cardiovascular disease, and it is necessary to stratify their risk to identify those who require intensive therapies.
CURRENT OPINION IN LIPIDOLOGY
(2023)
Review
Medicine, General & Internal
Anna Louise Pouncey, Mark Woodward
Summary: Cardiovascular disease is the leading cause of death in women, with ischaemic heart disease, stroke, and peripheral arterial disease being major components. However, there is a lack of knowledge about the risk factors and efficacy of treatment in women, resulting in reduced opportunities for prevention and management.
Article
Chemistry, Medicinal
Chrysoula Boutari, Christos V. V. Rizos, Michalis Doumas, George Liamis, Ioannis Skoumas, Loukianos Rallidis, Anastasia Garoufi, Genovefa Kolovou, Konstantinos Tziomalos, Emmanouil Skalidis, Vasileios Kotsis, George Sfikas, Vaia Lambadiari, Panagiotis Anagnostis, Eleni Bilianou, Georgia Anastasiou, Iosif Koutagiar, Estela Kiouri, Achilleas Attilakos, Vana Kolovou, Evangelos Zacharis, Christina Antza, Evangelos Liberopoulos
Summary: Familial hypercholesterolemia (FH) and type 2 diabetes mellitus (T2DM) are both associated with a high risk of atherosclerotic cardiovascular disease (ASCVD). A study found that FH patients with T2DM had a higher prevalence of ASCVD, coronary artery disease (CAD), and stroke compared to those without T2DM. T2DM was significantly associated with prevalent ASCVD even after adjusting for various factors. FH patients with T2DM were also more likely to undergo coronary revascularization procedures. These findings highlight the importance of risk stratification and treatment intensity in FH patients.
Article
Medicine, General & Internal
Etienne Khoury, Diane Brisson, Nathalie Roy, Gerald Tremblay, Daniel Gaudet
Summary: This study identified female sex, high levels of high-density lipoprotein (HDL)-C, elevated concentrations of adiponectin, and non-smoking as important markers contributing to a reduced risk of cardiovascular disease (CVD) and cardiovascular event (CVE)-free survival in individuals with familial hypercholesterolemia (FH), beyond LDL-C levels.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Peripheral Vascular Disease
Antonio Gallo, Reed Mszar, Marcio Hiroshi Miname
Summary: The high variability of cardiovascular risk in heterozygous familial hypercholesterolemia (HeFH) poses a challenge for therapeutic management. This review summarizes the recent findings on the non-invasive detection of subclinical atherosclerotic cardiovascular disease in HeFH patients using cardiovascular imaging, aiming to improve diagnosis and treatment of this undertreated and late-diagnosed disease.
CURRENT ATHEROSCLEROSIS REPORTS
(2022)
Article
Medicine, General & Internal
Liv J. Mundal, Jannicke Igland, Karianne Svendsen, Kirsten B. Holven, Trond P. Leren, Kjetil Retterstol
Summary: This study aimed to investigate the association between familial hypercholesterolemia (FH) and risk of dementia, as well as the relationship between statin use and dementia risk in individuals with FH. The findings showed that individuals with FH did not have an excess risk of dementia compared to age-matched and sex-matched controls, and there was no association between statin use and dementia risk in patients with FH.
Article
Medicine, General & Internal
Zhiyong Du, Fan Li, Long Jiang, Linyi Li, Yunhui Du, Huahui Yu, Yan Luo, Yu Wang, Haili Sun, Chaowei Hu, Jianping Li, Ya Yang, Xiaolu Jiao, Luya Wang, Yanwen Qin
Summary: This study comprehensively characterizes the metabolic features and risk factors of homozygous familial hypercholesterolemia (HoFH) using metabolic systems strategies. The study findings suggest that besides LDL-C, various bioactive metabolites in multiple pathways may contribute to cardiovascular complications in HoFH patients. Additionally, a small panel of metabolites was identified as potential predictors of cardiovascular events in HoFH patients.
Article
Peripheral Vascular Disease
Ming-Ming Liu, Jia Peng, Rui-Xia Xu, Yuan-Lin Guo, Cheng-Gang Zhu, Na-Qiong Wu, Jian-Jun Li
Summary: This study aimed to investigate the impact of hypertension on the severity of coronary artery atherosclerosis and cardiovascular outcomes in patients with heterozygous familial hypercholesterolemia (HeFH). The results showed that patients with hypertension had more severe coronary stenosis and a higher incidence of cardiovascular events. Furthermore, the control of blood pressure in patients with hypertension was associated with worse outcomes.
JOURNAL OF HYPERTENSION
(2022)
Article
Medicine, General & Internal
Antonio Gallo, Philippe Giral, David Rosenbaum, Alessandro Mattina, Ali Kilinc, Alain Giron, Khaoula Bouazizi, Moussa Gueda Moussa, Joe-Elie Salem, Alain Carrie, Valerie Carreau, Sophie Beliard, Randa Bittar, Philippe Cluzel, Eric Bruckert, Alban Redheuil, Nadjia Kachenoura
Summary: The study revealed early changes in myocardial tissue characteristics in patients with Familial Hypercholesterolemia (FH), suggesting the need for further research to better understand and prevent the underlying pathophysiological processes.
Article
Medicine, General & Internal
Andrea Aparicio, Francisco Villazon, Lorena Suarez-Gutierrez, Juan Gomez, Ceferino Martinez-Faedo, Edelmiro Mendez-Torre, Pablo Avanzas, Rut alvarez-Velasco, Elias Cuesta-Llavona, Claudia Garcia-Lago, David Neuhalfen, Eliecer Coto, Rebeca Lorca
Summary: Familial hypercholesterolemia (FH) is a common genetic disorder associated with premature atherosclerotic cardiovascular (CV) disease (ASCVD). However, it is often not diagnosed correctly. Initiating lipid-lowering therapy (LLT) early in life can significantly reduce ASCVD risk in FH patients. Genetic testing can be useful in identifying FH.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Julia Krzeminska, Ewelina Mlynarska, Ewa Radzioch, Magdalena Wronka, Jacek Rysz, Beata Franczyk
Summary: Familial hypercholesterolemia (FH) is a commonly overlooked disease that leads to cardiovascular incidents through elevated LDL-C levels. In addition to conventional treatment options, there are new therapies available, with evinacumab being a promising drug for treatment.
Article
Pharmacology & Pharmacy
Martine Paquette, Simon Faubert, Nathalie Saint-Pierre, Alexis Baass, Sophie Bernard
Summary: This study compared the changes in LDL-C levels following the use of PCSK9 inhibitors in men, women, and pre-and post-menopausal women. The results showed that men had a greater reduction in LDL-C compared to women, while no difference was observed between pre-and post-menopausal women. Further research is needed to determine if this difference has a meaningful impact on long-term cardiovascular risk.
JOURNAL OF CLINICAL LIPIDOLOGY
(2023)