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
Gastroenterology & Hepatology
Dominique Larrey, Laura D'Erasmo, Sallyann O'Brien, Marcello Arca, Italian Working Grp Lomitapide
Summary: This study aimed to assess the long-term hepatic safety of lomitapide and found that it is well tolerated with no clinically significant elevations in hepatic biomarkers and hepatic stiffness remained normal.
LIVER INTERNATIONAL
(2023)
Article
Cardiac & Cardiovascular Systems
Alexandre M. Belanger, Leo E. Akioyamen, Isabelle Ruel, Lindsay Hales, Jacques Genest
Summary: Aortic stenosis (AS) is a common complication in patients with Homozygous familial hypercholesterolaemia (HoFH). Over the past few decades, the survival rate of HoFH patients has significantly improved with the use of statins and lipoprotein apheresis, and there has been a change in the phenotype of aortic stenosis.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
M. Doortje Reijman, Anja Schweizer, Amy L. H. Peterson, Eric Bruckert, Christian Stratz, Joep C. Defesche, Robert A. Hegele, Albert Wiegman
Summary: Inclisiran is a promising new therapeutic option for lowering LDL-C levels in adults with atherosclerotic cardiovascular disease, and ongoing studies are investigating its efficacy, safety, and tolerability in adolescents diagnosed with familial hypercholesterolaemia. The trials aim to assess the impact of Inclisiran in adolescents with homozygous or heterozygous familial hypercholesterolaemia, with primary endpoints focused on changes in LDL-C levels over time.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Marta Futema, Uma Ramaswami, Lukas Tichy, Martin P. Bogsrud, Kirsten B. Holven, Jeanine Roeters van Lennep, Albert Wiegman, Olivier S. Descamps, Anne De Leener, Elodie Fastre, Michal Vrablik, Tomas Freiberger, Harald Esterbauer, Hans Dieplinger, Susanne Greber-Platzer, Ana M. Medeiros, Mafalda Bourbon, Vasiliki Mollaki, Euridiki Drogari, Steve E. Humphries
Summary: The most common cause of familial hypercholesterolaemia in children from eight European countries was found to be LDLR mutation, with significant variations in the prevalence of APOB p.(Arg3527Gln) mutation across different countries. LDLR-FH was associated with higher concentrations of LDL-C and a family history of coronary heart disease compared to APOB-FH in children.
Article
Cardiac & Cardiovascular Systems
Frederick Raal, Nyda Fourie, Russell Scott, Dirk Blom, Matthys De Vries Basson, Meral Kayikcioglu, Kate Caldwell, David Kallend, Evan Stein, LIBerate HeFH Investigators
Summary: This study evaluated the safety and efficacy of lerodalcibep in patients with heterozygous familial hypercholesterolemia who required additional LDL-C lowering. The results showed that lerodalcibep significantly reduced LDL-C levels and achieved the recommended targets by the European Society of Cardiology, with a safety profile similar to placebo.
EUROPEAN HEART JOURNAL
(2023)
Review
Cardiac & Cardiovascular Systems
Adam Kramer, Leo E. Akioyamen, Seohyuk Lee, Alexandre Belanger, Isabelle Ruel, Lindsay Hales, Jacques Genest, Liam R. Brunham
Summary: This study aimed to assess the prevalence and age-of-onset of major adverse cardiovascular events (MACE) among patients with Homozygous Familial Hypercholesterolaemia (HoFH). The findings showed that atherosclerotic cardiovascular disease is common among HoFH patients and occurs at a young age. The age-of-onset of myocardial infarction was delayed by more than a decade from pre-1990 to post-1990, reflecting substantial progress in the management of this rare but severe disorder.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Marina Cuchel, Paul C. Lee, Lisa C. Hudgins, P. Barton Duell, Zahid Ahmad, Seth J. Baum, MacRae F. Linton, Sarah D. de Ferranti, Christie M. Ballantyne, John A. Larry, Linda C. Hemphill, Iris Kindt, Samuel S. Gidding, Seth S. Martin, Patrick M. Moriarty, Paul P. Thompson, James A. Underberg, John R. Guyton, Rolf L. Andersen, David J. Whellan, Irwin Benuck, John P. Kane, Kelly Myers, William Howard, David Staszak, Allison Jamison, Mary C. Card, Mafalda Bourbon, Joana R. Chora, Daniel J. Rader, Joshua W. Knowles, Katherine Wilemon, Mary P. McGowan
Summary: This study investigated the diagnosis and treatment of HoFH in the United States and found a low diagnosis rate and low treatment rate, highlighting the need for enhanced screening and treatment to reduce the burden of the disease.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Review
Cardiac & Cardiovascular Systems
Marina Cuchel, Frederick J. Raal, Robert A. Hegele, Khalid Al-Rasadi, Marcello Arca, Maurizio Averna, Eric Bruckert, Tomas Freiberger, Daniel Gaudet, Mariko Harada-Shiba, Lisa C. Hudgins, Meral Kayikcioglu, Luis Masana, Klaus G. Parhofer, Jeanine E. Roeters van Lennep, Raul D. Santos, Erik S. G. Stroes, Gerald F. Watts, Albert Wiegman, Jane K. Stock, Lale S. Tokgoezoglu, Alberico L. Catapano, Kausik K. Ray
Summary: This 2023 statement provides updated clinical guidance for the management of homozygous familial hypercholesterolaemia (HoFH), including criteria for diagnosis, genetic testing interpretation, and treatment recommendations. The statement emphasizes the importance of considering both phenotype and genotype in the diagnosis of HoFH, with a LDL-C level >10 mmol/L (>400 mg/dL) being indicative of the condition. Combination therapy targeting LDL-C, including the use of novel therapies like proprotein convertase subtilisin/kexin type 9 inhibitors, is recommended to achieve LDL-C goals and reduce the need for lipoprotein apheresis. To improve HoFH care globally, the statement recommends the implementation of national screening programs, education to increase awareness, and management guidelines adapted to local healthcare systems.
EUROPEAN HEART JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Laura D'Erasmo, Kim Steward, Angelo Baldassare Cefalu, Alessia Di Costanzo, Eric Boersma, Simone Bini, Marcello Arca, Jeanine Roeters van Lennep
Summary: This study evaluated the medium-term effectiveness and safety of lomitapide in a large cohort of HoFH patients in Europe. The results showed that lomitapide was highly effective in reducing LDL-C levels in HoFH patients, with common gastrointestinal adverse events. The evaluation of liver safety was reassuring, with no increased risk of liver fibrosis. Additionally, a signal of cardiovascular protection was observed.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(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)
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
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)
Review
Cardiac & Cardiovascular Systems
Namin Wei, Yuanhui Hu, Siyu Li, Guoxiu Liu, Nang Zhang, Qiulei Jia, Jingjing Shi, Guozhen Yuan, Huaqiang Zhai
Summary: Lomitapide is an important option for the treatment of HoFH patients as it significantly suppresses LDL-C levels. However, it may cause gastrointestinal disorders and elevated hepatic ALT levels. Appropriate low-fat diets and drug dose adjustments can help control the treatment-associated adverse reactions.
REVIEWS IN CARDIOVASCULAR MEDICINE
(2022)
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)