Review
Health Care Sciences & Services
Nagham N. Hindi, Jamil Alenbawi, Georges Nemer
Summary: The rapid growth of genomic data and lack of appropriate clinical categorization of variants pose challenges to traditional medications. Global sequencing of healthy subjects and studying clustered familial diseases are tools to address this gap. Achieving an interactive genomic map related to drugs can benefit populations worldwide with dyslipidemia risk.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Medicine, General & Internal
Anselm K. Gitt, Ulrich Laufs, Winfried Marz, W. Dieter Paar, Peter Bramlage, Nikolaus Marx, Klaus G. Parhofer
Summary: This study provides insights into the clinical characteristics and current treatment status of patients with FH in Germany. Many patients with FH fail to achieve recommended lipid levels.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Pharmacology & Pharmacy
Carolina Dagli-Hernandez, Jessica Bassani Borges, Elisangela da Silva Rodrigues Marcal, Renata Caroline Costa de Freitas, Augusto Akira Mori, Rodrigo Marques Goncalves, Andre Arpad Faludi, Victor Fernandes de Oliveira, Glaucio Monteiro Ferreira, Gisele Medeiros Bastos, Yitian Zhou, Volker M. Lauschke, Alvaro Cerda, Mario Hiroyuki Hirata, Rosario Dominguez Crespo Hirata
Summary: In this study, the deleterious variant ABCC1 rs45511401 was found to significantly enhance the LDL-c response to statin treatment in Brazilian FH patients. However, deleterious variants in PK genes were not associated with an increased risk of statin-related adverse events. This suggests that ABCC1 rs45511401 may be a promising candidate for personalized statin therapy.
Article
Medical Laboratory Technology
Masato Hamasaki, Naoki Sakane, Kazuo Hara, Kazuhiko Kotani
Summary: The study revealed a significant positive correlation between LDL-C and PCSK9 levels in FH patients with gain-of-function variants of PCSK9 under lipid-lowering therapy. These variants can serve as molecular markers for additional treatment with statins in FH patients.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Cardiac & Cardiovascular Systems
Anatoly Langer, G. B. John Mancini, Mary Tan, Shaun G. Goodman, Vineeta Ahooja, Jean Gregoire, Peter J. Lin, James A. Stone, Lawrence A. Leiter
Summary: The study identified significant treatment inertia in patients with familial hypercholesterolemia (FH), especially in those with concurrent cardiovascular disease (CVD). Patients with FH initially had higher baseline low-density lipoprotein levels but were less likely to achieve recommended treatment targets compared to those with CVD. Education efforts should be focused on improving treatment outcomes for patients with FH.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Medicine, General & Internal
Joanna Lewek, Agnieszka Konopka, Ewa Starostecka, Peter E. Penson, Marek Maciejewski, Maciej Banach
Summary: The study found that despite earlier diagnosis in children, they presented with higher mean levels of LDL-C compared to adults. There is still an urgent need for effective lipid-lowering therapy in FH patients, especially the greater use of combination therapy.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Peripheral Vascular Disease
Shizuya Yamashita, Daisaku Masuda, Mariko Harada-Shiba, Hidenori Arai, Hideaki Bujo, Shun Ishibashi, Hiroyuki Daida, Nobuhiko Koga, Shinichi Oikawa
Summary: This study aimed to evaluate the clinical status and lipid-lowering drug therapy of familial hypercholesterolemia (FH) patients in Japan. The results showed that most patients did not achieve the target level of serum LDL-C for the prevention of coronary artery disease (CAD), highlighting the need for more aggressive LDL-C lowering.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
(2022)
Review
Genetics & Heredity
Sibbeliene E. van den Bosch, Willemijn E. Corpeleijn, Barbara A. Hutten, Albert Wiegman
Summary: Familial hypercholesterolemia (FH) is a hereditary disorder that causes severely elevated LDL-C levels, increasing the risk for premature cardiovascular disease. FH can be caused by genetic variants in LDLR, APOB, PCSK9, and/or LDLRAP1 genes. Early diagnosis through screening allows for effective lipid-lowering therapy and cardiovascular imaging. Recent research on the genetic basis of LDL-C metabolism has led to promising therapies, such as PCSK9 inhibitors. Novel therapies focusing on ANGPTL3 inhibition may reduce the need for apheresis in HoFH children without functional LDLR. Developing effective treatments for elevated Lp(a) levels remains a challenge, but understanding its genetic basis may lead to novel therapies.
Article
Cardiac & Cardiovascular Systems
Julia Brandts, Kausik K. Ray
Summary: Early detection of FH and normalization of LDL cholesterol levels are crucial for preventing cardiovascular disease. Various treatments targeting LDL receptor-dependent and independent pathways can be used to manage FH effectively.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Review
Pharmacology & Pharmacy
Walter Masson, Pablo Corral, Leandro Barbagelata, Augusto Lavalle-Cobo, Juan P. Nogueira, Daniel Siniawski, Kausik K. Ray
Summary: This systematic review suggests that statins can reduce cardiovascular events in patients with FH, although the evidence level is low. The evidence for other lipid-lowering drugs is inconclusive.
JOURNAL OF CLINICAL LIPIDOLOGY
(2022)
Article
Pharmacology & Pharmacy
Pamela Rodrigues de S. Silva, Cinthia E. Jannes, Theo G. M. Oliveira, Jose E. Krieger, Raul D. Santos, Alexandre C. Pereira
Summary: By conducting a one-year follow-up on patients with familial hypercholesterolemia, we found that those who received a positive genetic test had a higher rate of lipid-lowering drug use, while adherence was lower among positive relatives. Age, positive genetic test, and previous treatment history before the genetic test result were independent predictors for lipid-lowering drug use.
JOURNAL OF CLINICAL LIPIDOLOGY
(2022)
Article
Medicine, General & Internal
Victoria Marco-Benedi, Martin Laclaustra, Rosa M. Sanchez-Hernandez, Emilio Ortega-Martinez De Victoria, Juan Pedro-Botet, Jose Puzo, Fernando Civeira
Summary: This study investigated the prevalence of cataract surgery among elderly patients with genetically diagnosed heterozygous familial hypercholesterolemia (HeFH) receiving statin treatment for at least 5 years, finding no significant difference in cataract surgery rates between HeFH patients and controls. Factors related to cataract surgery were not associated with LDL cholesterol levels or the duration of statin therapy, suggesting that statin treatment is not a risk factor for cataracts.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Peripheral Vascular Disease
Ryo Naito, Hiroyuki Daida, Daisaku Masuda, Mariko Harada-Shiba, Hidenori Arai, Hideaki Bujo, Shun Ishibashi, Nobuhiko Koga, Shinichi Oikawa, Shizuya Yamashita
Summary: This study investigated the distribution of serum Lp(a) levels and their associations with other lipid profiles and clinical conditions in a Japanese cohort of FH patients. The results showed a skewed distribution of Lp(a) levels and positive relationships with Apo B and Apo E levels.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
(2022)
Article
Peripheral Vascular Disease
Yung-An Chua, Sukma Azureen Nazli, Azhari Rosman, Sazzli Shahlan Kasim, Khairul Shafiq Ibrahim, Ahmad Bakhtiar Md Radzi, Noor Alicezah Mohd Kasim, Hapizah Nawawi
Summary: This study reported the prescribing pattern of lipid-lowering medications (LLMs) and their effectiveness in reducing LDL-C levels among Malaysian patients with familial hypercholesterolemia (FH) treated in specialist hospitals. The majority of patients received LLMs, but only a small fraction achieved the therapeutic target LDL-C level.
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
(2022)
Review
Chemistry, Medicinal
Meral Kayikcioglu, Lale Tokgozoglu
Summary: HoFH is a rare form of familial hypercholesterolemia that causes extremely high levels of LDL-C, leading to early onset of ASCVD if left untreated. Most individuals with HoFH are resistant to conventional lipid lowering therapy due to absent or defective LDL-receptor activity. New agents that provide LDL-receptor independent cholesterol reduction offer promising pharmacotherapies for HoFH patients.
