Article
Urology & Nephrology
Elias Jatem, Joan Lima, Bruno Montoro, Francisco Torres-Bondia, Alfons Segarra
Summary: In patients with refractory nephrotic syndrome and uncontrolled hypercholesterolemia despite treatment with statins, PCSK9 inhibitors led to a significant decrease in total cholesterol and LDL-C levels. Plasma PCSK9 levels were also significantly reduced after six months of treatment, indicating that PCSK9 inhibitors may be an effective and safe alternative for this patient population.
KIDNEY INTERNATIONAL REPORTS
(2021)
Review
Medicine, General & Internal
Qingan Fu, Lijuan Hu, Tianzhou Shen, Renqiang Yang, Long Jiang
Summary: The rapid development of gene therapy technology is expected to change the treatment status of FH patients. Emerging gene therapy vectors and RNA-targeted therapies have shown excellent lipid-lowering effects. Using gene editing technologies, patients with FH are expected to reach a permanent cure.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Cardiac & Cardiovascular Systems
Lei Dai, Yuyue Zuo, Qiqi You, Hesong Zeng, Shiyi Cao
Summary: A meta-analysis of 10 randomized controlled trials demonstrated that bempedoic acid treatment significantly lowered low-density lipoprotein cholesterol levels in patients with hypercholesterolemia, with maintained improvements in lipid parameters at 24 and 52 weeks. While the overall risk of adverse events did not increase with bempedoic acid, the incidence of events leading to discontinuation was higher in the bempedoic acid group.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2021)
Article
Medicine, General & Internal
Radoslaw Motkowski, Pawel Abramowicz, Jolanta Kubalska, Bozena Mikoluc, Jerzy Konstantynowicz
Summary: This retrospective cohort study presented the 20-year experience of comprehensive care for pediatric patients with familial hypercholesterolemia in a single academic center. The study demonstrated that statin treatment in children with FH is highly effective and safe.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Francesca Mainieri, Veronica Maria Tagi, Francesco Chiarelli
Summary: Familial hypercholesterolemia is a common genetic disorder that leads to early development of cardiovascular disease and premature death. Early diagnosis and aggressive treatment are crucial for preventing complications. Diagnosis is mainly based on clinical and genetic factors, and widespread screening programs are recommended for early detection. Treatment includes lifestyle changes, standard medications, and new pharmacological agents, which show promising results for severe cases and patients who cannot tolerate other treatments.
Review
Genetics & Heredity
Linda C. Zuurbier, Joep C. Defesche, Albert Wiegman
Summary: The genetic screening program for familial hypercholesterolemia in the Netherlands, which ran from 1994 to 2014, identified at least 1500 cases annually and continued despite government funding cuts. The program led to the development of more sophisticated diagnostic tools, clinical collaborations, and new molecular-based treatments for FH patients. Additionally, the screening expanded to include other heritable dyslipidemias, utilizing a diagnostic next-generation sequencing panel that identified more patients prone to cardiovascular diseases and provided more personalized treatment options. The NGS output also revealed a more complex dyslipidemic landscape than originally thought, highlighting continuous progress and the importance of genetics in dyslipidemia.
Article
Medicine, General & Internal
Amy L. Peterson, Matthew Bang, Robert C. Block, Nathan D. Wong, Dean G. Karalis
Summary: Many physicians do not conduct cascade screening and are less likely to screen individuals with family history of known HeFH, compared to those with high cholesterol or premature ASCVD family history. Most physicians are willing to screen pediatric patients but only a few are willing to start treatment at recommended ages. Further education is needed to improve the diagnosis and treatment of HeFH.
JOURNAL OF CLINICAL MEDICINE
(2021)
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
Cardiac & Cardiovascular Systems
Robert S. Rosenson, Lesley J. Burgess, Christoph F. Ebenbichler, Seth J. Baum, Erik S. G. Stroes, Shazia Ali, Nagwa Khilla, Jennifer Mcginniss, Daniel Gaudet, Robert Pordy
Summary: Evinacumab provides sustained reductions in LDL-C levels and is well tolerated in patients with refractory hypercholesterolemia.
Review
Cardiac & Cardiovascular Systems
Behrooz Astaneh, Nima Makhdami, Vala Astaneh, Gordon Guyatt
Summary: The research indicates that mipomersen may reduce serum LDL in patients with familial hypercholesterolemia, but its impact on other important outcomes for patients remains uncertain. There is a high likelihood of injection site reactions in patients, while the risk of increased serum ALT is limited.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2021)
Article
Cardiac & Cardiovascular Systems
Manuela Casula, Marta Gazzotti, Maria Elena Capra, Elena Olmastroni, Federica Galimberti, Alberico L. Catapano, Cristina Pederiva
Summary: The diagnosis of familiar hypercholesterolemia (FH) in children is limited due to the lower prevalence of typical FH features compared to adults. Collecting more comprehensive data, including information about second-degree relatives, can improve the diagnosis of FH at a younger age.
Article
Endocrinology & Metabolism
Ambika P. Ashraf, Bhuvana Sunil, Vaneeta Bamba, Emily Breidbart, Preneet Cheema Brar, Stephanie Chung, Anshu Gupta, Aditi Khokhar, Seema Kumar, Marissa Lightbourne, Manmohan K. Kamboj, Ryan S. Miller, Nivedita Patni, Vandana Raman, Amy S. Shah, Don P. Wilson, Brenda Kohn
Summary: Pediatric endocrinologists play a crucial role in early intervention for dyslipidemia in children, with different treatment strategies needed for various cases. Timely identification and management are extremely important for preventing cardiovascular disease in at-risk youth.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Review
Pharmacology & Pharmacy
Negin Parsamanesh, Omid Kooshkaki, Haleh Siami, Raul D. Santos, Tannaz Jamialahmadi, Amirhossein Sahebkar
Summary: Familial hypercholesterolemia (FH) is a hereditary illness characterized by high risk of early cardiovascular disease and elevated levels of LDL cholesterol. FH is caused by mutations in genes such as LDL receptor, apolipoprotein B, PCSK9, and LDLR adaptor protein 1. Traditional lipid-lowering therapies have limited effectiveness for FH, especially in homozygous patients. This review discusses gene delivery, gene editing, and stem cell techniques used to correct FH-causing gene variations, including the use of CRISPR/Cas9 gene editing technology.
DRUG DISCOVERY TODAY
(2023)
Article
Chemistry, Medicinal
Claudia Stefanutti, Dick C. Chan, Serafina Di Giacomo, Claudia Morozzi, Gerald F. Watts
Summary: The study demonstrates that evinacumab is a safe and effective treatment for HoFH patients, leading to significant reduction in LDL-C levels, which is maintained even without LA treatment.
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.