Editorial Material
Cardiac & Cardiovascular Systems
Charles Amir German, Michael David Shapiro
Summary: This editorial discusses the impact of diabetes on coronary severity and cardiovascular outcomes in patients with heterozygous familial hypercholesterolemia as presented by Liu et al. The study found that diabetes plays a significant role in the progression of coronary artery disease and overall cardiovascular health in these patients.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Rafael Escate, Teresa Padro, Rosa Suades, Sandra Camino, Ovidio Muniz, Jose Luis Diaz-Diaz, Alessandro Sionis, Pedro Mata, Lina Badimon
Summary: The study investigated the predictive role of miRNAs in atherosclerotic plaque progression and clinical event presentation in FH patients, identifying miR-133a as the best predictor for CVE.
CARDIOVASCULAR RESEARCH
(2021)
Article
Cardiac & Cardiovascular Systems
Raul D. Santos, Andrea Ruzza, Bei Wang, Paul Maruff, Adrian Schembri, Ajay K. Bhatia, Francois Mach, Jean Bergeron, Isabelle Gaudet, Julie St Pierre, John J. P. Kastelein, G. Kees Hovingh, Albert Wiegman, Daniel Gaudet, Frederick J. Raal
Summary: This study examined the effects of 80 additional weeks of evolocumab treatment on cognitive function in paediatric patients with heterozygous FH. The results showed that evolocumab treatment had no negative impact on cognitive function in these patients.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Article
Medicine, General & Internal
Antonio J. Vallejo-Vaz, Christophe A. T. Stevens, Alexander R. M. Lyons, Kanika I. Dharmayat, Tomas Freiberger, G. Kees Hovingh, Pedro Mata, Frederick J. Raal, Raul D. Santos, Handrean Soran, Gerald F. Watts, Marianne Abifadel, Carlos A. Aguilar-Salinas, Khalid F. Alhabib, Mutaz Alkhnifsawi, Wael Almahmeed, Fahad Alnouri, Rodrigo Alonso, Khalid Al-Rasadi, Ahmad Al-Sarraf, Nasreen Al-Sayed, Francisco Araujo, Tester F. Ashavaid, Maciej Banach, Sophie Beliard, Marianne Benn, Christoph J. Binder, Martin P. Bogsrud, Mafalda Bourbon, Krzysztof Chlebus, Pablo Corral, Kairat Davletov, Olivier S. Descamps, Ronen Durst, Marat Ezhov, Dan Gaita, Jacques Genest, Urh Groselj, Mariko Harada-Shiba, Kirsten B. Holven, Meral Kayikcioglu, Weerapan Khovidhunkit, Katarina Lalic, Gustavs Latkovskis, Ulrich Laufs, Evangelos Liberopoulos, Marcos M. Lima-Martinez, Jie Lin, Vincent Maher, A. David Marais, Winfried Maerz, Erkin Mirrakhimov, Andre R. Miserez, Olena Mitchenko, Hapizah Nawawi, Borge G. Nordestgaard, Andrie G. Panayiotou, Gyorgy Paragh, Zaneta Petrulioniene, Belma Pojskic, Arman Postadzhiyan, Katarina Raslova, Ashraf Reda, Zeljko Reiner, Fouzia Sadiq, Wilson Ehidiamen Sadoh, Heribert Schunkert, Aleksandr B. Shek, Mario Stoll, Erik Stroes, Ta-Chen Su, Tavintharan Subramaniam, Andrey V. Susekov, Myra Tilney, Brian Tomlinson, Thanh Huong Truong, Alexandros D. Tselepis, Anne Tybjaerg-Hansen, Alejandra Vazquez Cardenas, Margus Viigimaa, Luya Wang, Shizuya Yamashita, Lale Tokgozoglu, Alberico L. Catapano, Kausik K. Ray
Summary: This study characterized the adult population with heterozygous familial hypercholesterolaemia using data from the FHSC global registry, highlighting the challenges in prevention and management of the condition. Early detection and greater use of combination therapies are needed to reduce the global burden of familial hypercholesterolaemia.
Article
Pharmacology & Pharmacy
Nick S. R. Lan, Archna Bajaj, Gerald F. Watts, Marina Cuchel
Summary: Familial hypercholesterolaemia (FH) is a common genetic disorder characterized by elevated LDL-C levels and increased risk of ASCVD. Many patients with FH do not achieve LDL-C goals despite treatment with statins and ezetimibe. New therapies targeting PCSK9 and ANGPTL3 have shown promising results in closing the treatment gap. This review discusses current and emerging treatment strategies for FH and emphasizes the importance of risk-stratification and implementation strategies for patient care.
PHARMACOLOGICAL RESEARCH
(2023)
Article
Pharmacology & Pharmacy
Leopoldo Perez de Isla, Rodrigo Alonso, Rosa Argueso, Ovidio Muniz-Grijalvo, Pilar Alvarez-Banos, Lina Badimon, Gerald F. Watts, Pedro Mata
Summary: This study investigated the predictors of resilience to atherosclerotic cardiovascular disease (ASCVD) in patients with familial hypercholesterolemia (FH). The research found that a low 10-year score in the SAFEHEART-Risk Equation was the only independent predictor of resilience to ASCVD in octogenarian FH patients. The application of this simple and validated risk equation may be useful in predicting FH patients who are ultra-resilient to ASCVD and may require less intensive healthcare resources.
JOURNAL OF CLINICAL LIPIDOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Ming-Ming Liu, Jia Peng, Yuan-Lin Guo, Na-Qiong Wu, Cheng-Gang Zhu, Ying Gao, Qian Dong, Jian-Jun Li
Summary: The study found that type 2 diabetes is an independent predictor of coronary artery disease severity and hard cardiovascular endpoints in patients with familial hypercholesterolemia. Patients with type 2 diabetes were more likely to have coronary artery disease and had an increased risk of hard cardiovascular events.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Anindita Chakraborty, Jing Pang, Dick C. Chan, Katrina L. Ellis, Amanda J. Hooper, Damon A. Bell, John R. Burnett, Eric K. Moses, Gerald F. Watts
Summary: This study investigated the detection of new cases of elevated Lp(a) during cascade testing of relatives of probands with a definite diagnosis of FH and elevated Lp(a). The findings suggest that a dual approach to cascade testing families for FH and high Lp(a) from appropriate probands can effectively identify new cases of FH and elevated Lp(a).
Review
Biochemistry & Molecular Biology
Paul N. Durrington, Bilal Bashir, Deepak Bhatnagar, Handrean Soran
Summary: This review examines the role of lipoprotein (a) in familial hypercholesterolemia and its contribution to atherosclerotic cardiovascular disease (ASCVD) risk. The mechanisms behind the increased lipoprotein (a) levels in familial hypercholesterolemia are likely related to hepatic production and genetic factors. The extent to which lipoprotein (a) further increases ASCVD risk in this population is still controversial.
CURRENT OPINION IN LIPIDOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Leopoldo Perez de Isla, Gerald F. Watts, Ovidio Muniz-Grijalvo, Jose Luis Diaz-Diaz, Rodrigo Alonso, Daniel Zambon, Francisco Fuentes-Jimenez, Marta Mauri, Teresa Padro, Jose Vidal-Pardo, Miguel A. Barba, Enrique Ruiz-Perez, Alfredo Michan, Juan D. Mediavilla, Antonio M. Hernandez, Manuel J. Romero-Jimenez, Lina Badimon, Pedro Mata
Summary: Knowledge of the features and factors of patients with familial hypercholesterolaemia (FH) who are protected from atherosclerotic cardiovascular disease (ASCVD) is important for clinical and prognostic care. This study found that resilient FH patients were characterized by being female, having a defective LDL-receptor mutation, higher levels of plasma HDL-C, lower levels of Lp(a), and an absence of hypertension.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Ailsa J. McKay, Laura H. Gunn, Kausik K. Ray
Summary: The study assessed the clinical decision-making value of the SAFEHEART tool in an English routine care cohort with familial hypercholesterolaemia (FH). The results showed that with recalibration, the tool has moderate utility at predicted risks of 10-30%.
Article
Cardiac & Cardiovascular Systems
Julius L. Katzmann, Maximilian Lehmann, Adrienn Tuennemann-Tarr, Ira An Haack, Alexander Dressel, Winfried Marz, Ulrich Laufs
Summary: Cutaneous manifestations are only present in a minority of contemporary patients with FH, including the subgroup with monogenic FH mutations. Although rare, the cutaneous signs have value in terms of specificity. However, the clinical characteristics shared by the majority of FH patients may be better suited for screening purposes.
Article
Cardiac & Cardiovascular Systems
Gerald F. Watts, Samuel S. Gidding, Robert A. Hegele, Frederick J. Raal, Amy C. Sturm, Laney K. Jones, Mitchell N. Sarkies, Khalid Al-Rasadi, Dirk J. Blom, Magdalena Daccord, Sarah D. de Ferranti, Emanuela Folco, Peter Libby, Pedro Mata, Hapizah M. Nawawi, Uma Ramaswami, Kausik K. Ray, Claudia Stefanutti, Shizuya Yamashita, Jing Pang, Gilbert R. Thompson, Raul D. Santos
Summary: Familial hypercholesterolaemia (FH) is a preventable cause of premature coronary artery disease and death. This guidance article from the International Atherosclerosis Society provides a comprehensive overview of FH care that includes recommendations on the detection and management of patients with FH, as well as strategies to maximize implementation.
NATURE REVIEWS CARDIOLOGY
(2023)
Article
Medicine, General & Internal
Tycho R. Tromp, Merel L. Hartgers, G. Kees Hovingh, Antonio J. Vallejo-Vaz, Kausik K. Ray, Handrean Soran, Tomas Freiberger, Stefano Bertolini, Mariko Harada-Shiba, Dirk J. Blom, Frederick J. Raal, Marina Cuchel
Summary: Patients with homozygous familial hypercholesterolaemia (HoFH) globally face issues of late diagnosis, under-treatment, and high risk of premature ASCVD. The use of multiple lipid-lowering therapy regimens is associated with lower LDL cholesterol levels and better outcomes. Significant global disparities exist in treatment regimens, control of LDL cholesterol levels, and cardiovascular event-free survival.
Article
Hematology
Martine Paquette, Sophie Bernard, Bertrand Cariou, Robert A. Hegele, Jacques Genest, Mark Trinder, Liam R. Brunham, Sophie Beliard, Alexis Baass
Summary: The FH-Risk-Score is a more accurate predictor of future ASCVD events than the SAFEHEART-RE, providing personalized cardiovascular risk assessment and treatment for patients with FH. Future studies are needed to validate its performance in different ethnic groups.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)