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Heterozygous familial hypercholesterolemia

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https://www.readbyqxmd.com/read/29321389/aortic-root-calcification-score-as-an-independent-factor-for-predicting-major-adverse-cardiac-events-in-familial-hypercholesterolemia
#1
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
#2
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/29290540/abo-blood-group-is-a-cardiovascular-risk-factor-in-patients-with-familial-hypercholesterolemia
#3
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
#4
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
#5
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/29248321/-evaluation-of-knowledge-and-practices-regarding-heterozygous-familial-hypercholesterolemia-in-children
#6
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
#7
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
https://www.readbyqxmd.com/read/29245109/autosomal-recessive-hypercholesterolemia-in-spain
#8
Rosa María Sánchez-Hernández, Pablo Prieto-Matos, Fernando Civeira, Eduardo Esteve Lafuente, Manuel Frías Vargas, José T Real, Fernando Goñi Goicoechea, Francisco J Fuentes, Miguel Pocovi, Mauro Boronat, Ana María Wägner, Luis Masana
BACKGROUND AND AIMS: Autosomal recessive hypercholesterolemia (ARH) is a very rare disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. We aimed to characterize ARH in Spain. METHODS: Data were collected from the Dyslipidemia Registry of the Spanish Atherosclerosis Society. A literature search was performed up to June 2017, and all diagnostic genetic studies for familial hypercholesterolemia of Spain were reviewed...
December 6, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29243274/target-achievement-with-maximal-statin-based-lipid-lowering-therapy-in-korean-patients-with-familial-hypercholesterolemia-a-study-supported-by-the-korean-society-of-lipid-and-atherosclerosis
#9
Jaewon Oh, Chan Joo Lee, Doo Il Kim, Moo-Yong Rhee, Byoung-Kwon Lee, Youngkeun Ahn, Byung Ryul Cho, Jeong-Taek Woo, Seung-Ho Hur, Jin-Ok Jeong, Yangsoo Jang, Sang-Hak Lee
BACKGROUND: Data on treatment results of lipid-lowering therapy (LLT) in familial hypercholesterolemia (FH) are limited, particularly in Asian patients. HYPOTHESIS: We sought to evaluate the target achievement rate and associated variables in Korean patients with FH after maximal statin-based LLT. METHODS: We enrolled 146 patients with heterozygous FH, and 90 patients were finally analyzed. Patients were initially prescribed rosuvastatin 10 mg or atorvastatin 20 mg, and the regimen was adjusted to achieve the low-density lipoprotein cholesterol (LDL-C) target of 100 mg/dL...
December 14, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/29233637/compound-heterozygous-familial-hypercholesterolemia-in-a-chinese-boy-with-a-de%C3%A2-novo-and-transmitted-low-density-lipoprotein-receptor-mutation
#10
Yizhe Ma, Yingyun Gong, Abhimanyu Garg, Hongwen Zhou
BACKGROUND: Homozygous familial hypercholesterolemia is characterized by extremely elevated serum low-density lipoprotein cholesterol (LDL-C) levels and increased risk of cardiovascular complications due to biallelic mutations in LDL receptor (LDLR). OBJECTIVE: We present a 10-year-old Chinese homozygous familial hypercholesterolemia boy with biallelic LDLR mutations including an extremely rare de novo mutation. METHODS: Detailed family history and clinical and biochemical data were gathered from the pedigree...
October 26, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29213121/the-genetic-spectrum-of-familial-hypercholesterolemia-fh-in-the-iranian-population
#11
R H Fairoozy, M Futema, R Vakili, M R Abbaszadegan, S Hosseini, M Aminzadeh, H Zaeri, M Mobini, S E Humphries, A Sahebkar
Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with premature cardiovascular disease (CVD). Mutations in the LDLR, APOB, and PCSK9 genes are known to cause FH. In this study, we analysed the genetic spectrum of the disease in subjects from the Iranian population with a clinical diagnosis of FH. Samples were collected from 16 children and family members from five different cities of Iran. Probands were screened for mutations in the LDLR, APOB, and PCSK9 genes using next generation sequencing, with results confirmed by Sanger sequencing...
December 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29193500/stroke-patients-with-familial-hypercholesterolemia-need-for-detection-and-aggressive-treatment
#12
Haralampos Milionis
Familial hypercholesterolaemia (FH) is an autosomal dominant disorder originating from mutations in genes encoding low density lipoprotein (LDL)-receptor, apolipoprotein B (apoB), or proprotein convertase subtilisin/kexin type 9 (PCSK9), thus resulting in severe elevations of total and LDL cholesterol levels. Heterozygous FH (HeFH) occurs in 1 in 250 people, whereas homozygous FH (HoFH) is very rare, occurring in about 1 in 160,000 to one million people worldwide [1]. Despite the fact that FH is a relatively rare disease, it is of profound medical interest by serving as a model disease for atherosclerosis...
November 28, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29190549/cholesterol-oversynthesis-markers-define-familial-combined-hyperlipidemia-versus-other-genetic-hypercholesterolemias-independently-of-body-weight
#13
Lucía Baila-Rueda, Ana Cenarro, Itziar Lamiquiz-Moneo, Sofía Perez-Calahorra, Ana M Bea, Victoria Marco-Benedí, Estíbaliz Jarauta, Rocío Mateo-Gallego, Fernando Civeira
Primary hypercholesterolemia of genetic origin, negative for mutations in LDLR, APOB, PCSK9 and APOE genes (non-FH GH), and familial combined hyperlipidemia (FCHL) are polygenic genetic diseases that occur with hypercholesterolemia, and both share a very high cardiovascular risk. In order to better characterize the metabolic abnormalities associated with these primary hypercholesterolemias, we used noncholesterol sterols, as markers of cholesterol metabolism, to determine their potential differences. Hepatic cholesterol synthesis markers (desmosterol and lanosterol) and intestinal cholesterol absorption markers (sitosterol and campesterol) were determined in non-FH GH (n=200), FCHL (n=100) and genetically defined heterozygous familial hypercholesterolemia subjects (FH) (n=100) and in normolipidemic controls (n=100)...
November 27, 2017: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/29187694/efficacy-and-safety-of-pitavastatin-in-children-and-adolescents-with-familial-hypercholesterolemia-in-japan-and-europe
#14
Mariko Harada-Shiba, John J P Kastelein, G Kees Hovingh, Kausik K Ray, Akira Ohtake, Osamu Arisaka, Takao Ohta, Tomoo Okada, Hideki Suganami, Albert Wiegman
AIM: Children with Familial Hypercholesterolemia (FH) are widely prescribed statins, and it has been suggested that the effects of statins differ among ethnicities. We compared the efficacy and safety of pitavastatin in children and adolescents with FH in clinical trials conducted in Japan and Europe. METHODS: Low-density lipoprotein cholesterol (LDL-C) reductions, adjusted for confounding factors, and safety were compared between the studies in Japan and Europe...
November 29, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/29181773/budget-impact-analysis-of-pcsk9-inhibitors-for-the-management-of-adult-patients-with-heterozygous-familial-hypercholesterolemia-or-clinical-atherosclerotic-cardiovascular-disease
#15
Usha G Mallya, Susan H Boklage, Andrew Koren, Thomas E Delea, C Daniel Mullins
OBJECTIVE: The aim of this study was to assess the budget impact of introducing the proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i) alirocumab and evolocumab to market for the treatment of adults with heterozygous familial hypercholesterolemia or clinical atherosclerotic cardiovascular (CV) disease requiring additional lowering of low-density lipoprotein cholesterol (LDL-C). METHODS: A 3-year model estimated the costs of lipid-modifying therapy (LMT) and CV events to a hypothetical US health plan of 1 million members, comparing two scenarios-with and without the availability of PCSK9i as add-on therapy to statins...
November 27, 2017: PharmacoEconomics
https://www.readbyqxmd.com/read/29174439/vascular-inflammation-and-metabolic-activity-in-hematopoietic-organs-and-liver-in-familial-combined-hyperlipidemia-and-heterozygous-familial-hypercholesterolemia
#16
Konstantinos Toutouzas, John Skoumas, Iosif Koutagiar, Georgios Benetos, Nikoletta Pianou, Alexandros Georgakopoulos, Spyros Galanakos, Alexios Antonopoulos, Maria Drakopoulou, Evangelos K Oikonomou, Pavlos Kafouris, Emmanouil Athanasiadis, Marinos Metaxas, George Spyrou, Zoi Pallantza, Nikolaos Galiatsatos, Constantina Aggeli, Charalampos Antoniades, Georgia Keramida, Adrien M Peters, Constantinos D Anagnostopoulos, Dimitris Tousoulis
BACKGROUND: Familial dyslipidemias of either heterozygous (heFH) or combined (FCH) type lead to accelerated atherogenesis and increased cardiovascular risk. OBJECTIVE: The aim of this study was to investigate in statin-naïve adult patients with familial dyslipidemias whether inflammatory activation and liver, spleen and bone marrow metabolic activity differ compared with normolipidemic subjects and between dyslipidemic groups. METHODS: Fourteen patients with FCH, 14 with heFH, and 14 normolipidemic individuals were enrolled...
November 2, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29172973/ezetimibe-use-and-ldl-c-goal-achievement-a-retrospective-database-analysis-of-patients-with-clinical-atherosclerotic-cardiovascular-disease-or-probable-heterozygous-familial-hypercholesterolemia
#17
Joseph Menzin, Jyoti Aggarwal, Brian Boatman, Jeffrey Yu, Kevin Stern, David J Harrison, Jeetvan G Patel
BACKGROUND: Ezetimibe is recommended by clinical practice guidelines as a second-line therapy for lowering low-density lipoprotein cholesterol (LDL-C) levels, but little is known about its use and effectiveness in real-world populations. OBJECTIVE: To understand the real-world impact of adding or switching to ezetimibe on LDL-C goal achievement in patients with clinical atherosclerotic cardiovascular disease (ASCVD) and/or heterozygous familial hypercholesterolemia (HeFH)...
December 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/29171950/-evolocumab-repatha%C3%A2-a-human-monoclonal-antibody-against-pcsk9-protein-as-potent-cholesterol-lowering-therapy
#18
C Wallemacq
Evolocumab is a fully human monoclonal antibody (mAb) targeting ProProtein Convertase Subtilisin/Kexin 9 (PCSK9). PCSK9 is a circulating enzyme secreted by the liver and plays a key role in the LDL-Receptors (LDL-R) turnover. Binding of PCSK9 on the extracellular part of LDL-R is responsible for its degradation in the lysosome instead of its recycling to the cell surface, thereby producing a reduction in the number of LDL-R on the cell surface, a decreased LDL-C uptake and increased levels of LDL-C. Inhibiting PCSK9 is a new way to markedly reduce LDL-C...
November 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/29171769/alirocumab-for-the-treatment-of-hyperlipidemia-in-high-risk-patients-an-updated-review
#19
Michael Farnier
Alirocumab is a fully human immunoglobulin G1 monoclonal antibody directed against proprotein convertase subtilisin/kexin type 9 (PCSK9) approved for the treatment of hypercholesterolemia in high-risk patients. The objective is to provide an updated review of the recent data published for alirocumab. Areas covered: The efficacy and safety of alirocumab has been initially evaluated in a comprehensive phase 3 program conducted in more than 6 000 patients with primary non-familial and heterozygous familial hypercholesterolemia: alirocumab reduced LDL-cholesterol up to 62% in phase 3 with every 2-week dosing compared with placebo, and up to 36% compared with ezetimibe, with an excellent safety and tolerability profile...
November 24, 2017: Expert Review of Cardiovascular Therapy
https://www.readbyqxmd.com/read/29168983/reverse-cascade-screening-for-familial-hypercholesterolemia-in-high-risk-chinese-families
#20
Xue Wu, Jing Pang, Xumin Wang, Jie Peng, Yan Chen, Shilong Wang, Gerald F Watts, Jie Lin
BACKGROUND: Reverse cascade screening is not commonly employed to detect new cases of familial hypercholesterolemia (FH). We aimed to assess the outcome of this screening strategy in families in which the probands were children with severe FH. HYPOTHESIS: Reverse cascade screening is an effective method to detect new patients with FH. METHODS: Reverse cascade screening was undertaken starting from 47 index children with severe hypercholesterolemia; 39 were homozygous/compound heterozygous FH and 8 were heterozygous FH...
November 23, 2017: Clinical Cardiology
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