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Familial hypercholesterolemia

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https://www.readbyqxmd.com/read/29332570/proprotein-convertase-subtilisin-kexin-type-9-inhibition-in-cardiovascular-prevention
#1
Ali Ali, Pierluigi Costanzo, Angela Hoye
Elevated levels of Low Density Lipoprotein cholesterol (LDL-C) are directly associated with increased risk for atherosclerotic cardiovascular and cerebrovascular events. Statins have been used to control serum LDL-C and this has translated into reduction in cardiovascular and cerebrovascular events. However, despite high dose statin therapy, LDL-C control may remain inadequate in some patients, particularly those with familial hypercholesterolemia. A new therapeutic approach has emerged in recent years with proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors...
January 10, 2018: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29326146/prior-authorization-requirements-for-proprotein-convertase-subtilisin-kexin-type-9-inhibitors-across-us-private-and-public-payers
#2
Jalpa A Doshi, Justin T Puckett, Michael S Parmacek, Daniel J Rader
BACKGROUND: Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9is) are an innovative treatment option for patients with familial hypercholesterolemia or clinical atherosclerotic cardiovascular disease who require further lowering of low-density lipoprotein cholesterol. However, the high costs of these agents have spurred payers to implement utilization management policies to ensure appropriate use. We examined prior authorization (PA) requirements for PCSK9is across private and public US payers...
January 2018: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/29323716/oxidative-burden-in-familial-hypercholesterolemia
#3
REVIEW
Hamid Mollazadeh, Federico Carbone, Fabrizio Montecucco, Matteo Pirro, Amirhossein Sahebkar
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high serum levels of low-density lipoprotein cholesterol (LDL-c). FH is characterized by accelerated development of atherosclerosis and represents the most frequent hereditary cause of premature coronary heart disease. Mutations of the LDL receptor gene are the genetic signature of FH, resulting in abnormal levels of circulating LDLs. Moreover, FH promotes the generation of reactive oxygen species (ROS) which is another key mechanism involved in atherosclerosis development and progression...
January 11, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29321389/aortic-root-calcification-score-as-an-independent-factor-for-predicting-major-adverse-cardiac-events-in-familial-hypercholesterolemia
#4
Hirofumi Okada, Hayato Tada, Kenshi Hayashi, Hiroki Kawashima, Tadanori Takata, Kenji Sakata, Atsushi Nohara, Hiroshi Mabuchi, Masakazu Yamagishi, Masa-Aki Kawashiri
AIM: The aims of this study were: 1) to determine whether the accumulation of aortic root calcification (ARC) assessed using coronary computed tomography angiography (CCTA) can predict future cardiovascular events, and 2) to estimate the onset and progression of ARC in patients with familial hypercholesterolemia (FH). METHODS: One hundred thirteen consecutive Japanese patients with heterozygous FH (male=54, mean age=52.1±15.6 years, mean LDL-C=299.0±94.6 mg/dL), without known coronary artery disease, who underwent 64-detector row CCTA were retrospectively evaluated...
January 10, 2018: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/29310990/treatment-goal-attainment-in-children-with-familial-hypercholesterolemia-a-cohort-study-of%C3%A2-302-children-in-norway
#5
Martin P Bogsrud, Gisle Langslet, Cecilie Wium, Dan Johansen, Arne Svilaas, Kirsten B Holven
BACKGROUND: Consensus statements recommend that statin treatment in children with heterozygous familial hypercholesterolemia (FH) should be considered from 8 to 10 years of age. Although these recommendations are well known, less is known about actual treatment and treatment goal attainment in children with FH. OBJECTIVE: The objective of the study was to investigate if children with FH were treated according to current recommendations. METHODS: Retrospective collection of data from medical records of 302 children below 18 years visiting the Lipid Clinic, Oslo University hospital, during 2014 to 2016...
December 6, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29306457/cost-effectiveness-of-pcsk9-inhibition-in-addition-to-standard-lipid-lowering-therapy-in-patients-at-high-risk-for-vascular-disease
#6
Manon C Stam-Slob, Yolanda van der Graaf, Anthonius de Boer, Jacoba P Greving, Frank L J Visseren
BACKGROUND: As proprotein convertase subtilisin-kexin type 9 (PCSK9) monoclonal antibodies are entering the market, we assessed the cost-effectiveness of PCSK9 inhibition added to standard lipid-lowering therapy in patient groups at high risk for major adverse cardiovascular events (MACE). METHODS: A lifetime Markov Model was designed to estimate healthcare costs, quality-adjusted life years (QALYs) and incremental cost-effectiveness ratios (ICERs) for PCSK9 inhibition added to standard therapy in patients with Familial Hypercholesterolemia (FH), patients with vascular disease at high MACE recurrence risk, and patients with vascular disease with diabetes mellitus...
February 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29303791/role-of-dna-copy-number-variation-in-dyslipidemias
#7
Michael A Iacocca, Robert A Hegele
PURPOSE OF REVIEW: DNA copy number variations (CNVs) are quantitative structural rearrangements that include deletions, duplications, and higher order amplifications. Because of technical limitations, the contribution of this common form of genetic variation to regulation of lipid metabolism and dyslipidemia has been underestimated. RECENT FINDINGS: Recent literature involving CNVs and dyslipidemias has focused mainly on rare CNVs causing familial hypercholesterolemia, and a common CNV polymorphism as the major determinant of lipoprotein(a) plasma concentrations...
January 4, 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29301842/lessening-the-burden-of-familial-hypercholesterolemia-using-health-information-technology
#8
Maya S Safarova, Iftikhar J Kullo
No abstract text is available yet for this article.
January 5, 2018: Circulation Research
https://www.readbyqxmd.com/read/29290960/lovastatin-induced-kruppel-like-factor-2-klf2-kruppel-like-factor-6-klf6-and-ras-homolog-family-member-b-rhob-genes-and-preferentially-led-to-viability-reduction-of-cisplatin-resistant-cells
#9
Chiho Koi, Hiroto Izumi, Tomoko Kurita, Thuy Thi Nguyen, Midori Murakami, Yukiko Yoshiura, Toru Hachisuga, Yasuo Morimoto
It was reported that statins, inhibitors of 3-hydroxy-3-methylglutaryl coenzyme A reductase that are used to prevent hypercholesterolemia, have antitumor activity in several cancers. In this study, we investigated the cell viability of statins in Cisplatin-resistant HCP4 and PCDP5 cells compared with their parent Hela and PC3 cells, respectively, and found that HCP4 and PCDP5 cells were 37-fold and 18-fold more resistant to Cisplatin but 13-fold and 7-fold more sensitive to Lovastatin by cell proliferation assay...
December 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/29290540/abo-blood-group-is-a-cardiovascular-risk-factor-in-patients-with-familial-hypercholesterolemia
#10
Martine Paquette, Robert Dufour, Alexis Baass
BACKGROUND: The ABO blood group has been associated with cardiovascular disease (CVD) in observational studies. However, the effect of ABO blood group has never been studied in subjects affected by familial hypercholesterolemia (FH), a severe monogenic disease characterized by accelerated atherosclerotic plaque development. OBJECTIVE: Our aim is to investigate the effect of the ABO blood group on CVD risk in FH patients. METHODS: A total of 668 adult subjects with a heterozygous FH-causing mutation in the low density lipoprotein receptor (LDLR) gene were included in the present study...
December 14, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29290422/short-term-effect-of-rosuvastatin-treatment-on-arterial-stiffness-in-individuals-with-newly-diagnosed-heterozygous-familial-hypercholesterolemia
#11
Marco Canepa, Nathan Artom, Pietro Ameri, Federico Carbone, Fabrizio Montecucco, Giorgio Ghigliotti, Claudio Brunelli, Franco Dallegri, Aldo Pende, Livia Pisciotta
No abstract text is available yet for this article.
December 27, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29289533/ldl-receptor-gene-ablated-hamsters-a-rodent-model-of-familial-hypercholesterolemia-with-dominant-inheritance-and-diet-induced-coronary-atherosclerosis
#12
Xin Guo, Mingming Gao, Yunan Wang, Xiao Lin, Liu Yang, Nathan Cong, Xiangbo An, Feng Wang, Kai Qu, Liqing Yu, Yuhui Wang, Jinjie Wang, Haibo Zhu, Xunde Xian, George Liu
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease caused mainly by LDL receptor (Ldlr) gene mutations. Unlike FH patients, heterozygous Ldlr knockout (KO) mice do not show a dominant FH trait. Hamsters, like humans, have the cholesteryl ester transfer protein, intestine-only ApoB editing and low hepatic cholesterol synthesis. Here, we generated Ldlr-ablated hamsters using CRISPR/Cas9 technology. Homozygous Ldlr KO hamsters on a chow diet developed hypercholesterolemia with LDL as the dominant lipoprotein and spontaneous atherosclerosis...
December 15, 2017: EBioMedicine
https://www.readbyqxmd.com/read/29287917/safety-of-statin-treatment-in-children-with-familial-hypercholesterolemia-filling-the-gaps
#13
EDITORIAL
Viviane Z Rocha, Raul D Santos
No abstract text is available yet for this article.
December 7, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29284604/homozygous-familial-hypercholesterolemia-patients-with-identical-mutations-variably-express-the-ldlr-low-density-lipoprotein-receptor-implications-for-the-efficacy-of-evolocumab
#14
Aurélie Thedrez, Dirk J Blom, Stéphane Ramin-Mangata, Valentin Blanchard, Mikaël Croyal, Kevin Chemello, Brice Nativel, Matthieu Pichelin, Bertrand Cariou, Steeve Bourane, Lihua Tang, Michel Farnier, Frederick J Raal, Gilles Lambert
OBJECTIVE: Evolocumab, a PCSK9 (proprotein convertase subtilisin kexin type 9)-neutralizing antibody, lowers low-density lipoprotein cholesterol (LDL-C) in homozygous familial hypercholesterolemic (HoFH) patients with reduced LDLR (low-density lipoprotein receptor) function. However, their individual responses are highly variable, even among carriers of identical LDLR genetic defects. We aimed to elucidate why HoFH patients variably respond to PCSK9 inhibition. APPROACH AND RESULTS: Lymphocytes were isolated from 22 HoFH patients enrolled in the TAUSSIG trial...
December 28, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29278517/an-insight-into-familial-hypercholesterolemia-in-greece-rationale-and-design-of-the-hellenic-familial-hypercholesterolemia-registry-hellas-fh
#15
Christos V Rizos, Vasilios Athyros, Eleni Bilianou, George Chrousos, Anastasia Garoufi, Genovefa Kolovou, Vasilios Kotsis, Loukianos Rallidis, Emmanouel Skalidis, Ioannis Skoumas, Konstantinos Tziomalos, Evangelos V Liberopoulos
Familial hypercholesterolemia (FH) is the most common metabolic genetic disorder. It is estimated that around 13 million people worldwide have FH. At the same time, only 25% of FH patients have been diagnosed. Moreover, these patients are often undertreated. The true prevalence of FH in Greece is unknown, but it is estimated that there are at least 40,000 FH patients nationwide pointing to a prevalence of 1:250. Patients with FH are at a high risk for cardiovascular events and death at an early age. Therefore, prompt detection of these patients is of pivotal importance in order to implement appropriate preventive measures at a young age...
July 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29261184/analysis-of-publicly-available-ldlr-apob-and-pcsk9-variants-associated-with-familial-hypercholesterolemia-application-of-acmg-guidelines-and-implications-for-familial-hypercholesterolemia-diagnosis
#16
Joana Rita Chora, Ana Margarida Medeiros, Ana Catarina Alves, Mafalda Bourbon
PurposeFamilial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism presenting with increased cardiovascular risk. Although more than 1,700 variants have been associated with FH, the great majority have not been functionally proved to affect the low-density lipoprotein receptor cycle. We aimed to classify all described variants associated with FH and to establish the proportion of variants that lack evidence to support their pathogenicity.MethodsWe followed American College of Medical Genetics and Genomics (ACMG) guidelines for the classification, and collected information from a variety of databases and individual reports...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29259521/nuclease-mediated-gene-therapies-for-inherited-metabolic-diseases-of-the-liver%C3%A2-%C3%A2
#17
REVIEW
Taylor E Bryson, Caitlin M Anglin, P Hudson Bridges, Renee N Cottle
Inherited metabolic diseases (IMDs) of the liver represent a vast and diverse group of rare genetic diseases characterized by the loss or dysfunction of enzymes or proteins essential for metabolic pathways in the liver. Conventional gene therapy involving adeno-associated virus (AAV) serotype 8 vectors provide therapeutically high levels of hepatic transgene expression facilitating the correction of the disease phenotype in pre-clinical studies and are currently being evaluated in clinical trials for multiple IMDs...
December 2017: Yale Journal of Biology and Medicine
https://www.readbyqxmd.com/read/29249427/prevalence-and-management-of-familial-hypercholesterolemia-in-patients-with-coronary-artery-disease-the-heredity-survey
#18
Pompilio Faggiano, Angela Pirillo, Raffaele Griffo, Marco Ambrosetti, Roberto Pedretti, Giampaolo Scorcu, Marika Werren, Oreste Febo, Gabriella Malfatto, Giuseppe Favretto, Filippo Sarullo, Francesco Antonini-Canterin, Gianni Zobbi, Pierluigi Temporelli, Alberico L Catapano
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low density lipoprotein cholesterol (LDL-C) predisposing to premature cardiovascular disease. Its prevalence varies and has been estimated around 1 in 200-500. The Heredity survey evaluated the prevalence of potential FH and the therapeutic approaches among patients with established coronary artery disease (CAD) or peripheral artery disease (PAD) in which it is less well documented...
February 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29248321/-evaluation-of-knowledge-and-practices-regarding-heterozygous-familial-hypercholesterolemia-in-children
#19
A Jeangeorges, A Rubio
INTRODUCTION: Dominant heterozygous familial hypercholesterolemia (FH) is frequent (prevalence, 1/500 to 1/250) and leads to severe and premature cardiovascular complications. It is easily detected, and its treatment is effective. However, recommendations for screening are not followed worldwide. OBJECTIVES: The aim of this study was to evaluate the knowledge and practices of doctors in the Isère department, France, regarding screening and treatment of FH in children...
December 13, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29246730/a-case-of-sitosterolemia-misdiagnosed-as-familial-hypercholesterolemia-a-4-year-follow-up
#20
Wei Wang, Long Jiang, Pan-Pan Chen, Yue Wu, Peng-Yu Su, Lu-Ya Wang
Familial hypercholesterolemia (FH) is a common inherited disease that exhibits significantly increased levels of low-density lipoprotein cholesterol (LDL-C), skin or tendon xanthomas, corneal arcus and premature coronary heart disease (CHD). The prevalence of heterozygous FH is nearly 1/300 worldwide, and the prevalence of homozygous FH (HoFH) is 1/160,000 - 1/300,000. The Dutch Lipid Clinic Network diagnostic (DLCN) criteria is the most commonly recommended criteria for diagnosing FH patients. However, another disease with a similar clinical phenotype to FH must be differentiated from FH...
November 11, 2017: Journal of Clinical Lipidology
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