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Heterozygous familial hypercholesterolemia

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https://www.readbyqxmd.com/read/29784573/phactr1-genotype-predicts-coronary-artery-disease-in-patients-with-familial-hypercholesterolemia
#1
Martine Paquette, Robert Dufour, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is the most frequent autosomal codominant disease worldwide and is characterized by elevated low-density lipoprotein cholesterol and premature coronary artery disease (CAD). Polymorphisms in phosphatase and actin regulator 1 (PHACTR1) have been shown to be associated with cardiovascular risk in large genome-wide association studies studies. OBJECTIVE: The aim of the present study is to evaluate the association between the rs12526453 polymorphism in the PHACTR1 gene and the prevalence of CAD in FH patients...
April 30, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29778561/severe-xanthomatosis-in-heterozygous-familial-hypercholesterolemia
#2
Sumayah Aljenedil, Isabelle Ruel, Kevin Watters, Jacques Genest
BACKGROUND: Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p...
April 3, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29773150/anxiety-depression-and-health-related-quality-of-life-in-heterozygous-familial-hypercholesterolemia-a-systematic-review-and-meta-analysis
#3
Leo E Akioyamen, Jacques Genest, Shubham D Shan, Happy Inibhunu, Anna Chu, Jack V Tu
BACKGROUND: Heterozygous familial hypercholesterolemia (FH) is a common genetic disease predisposing affected individuals to a high risk of cardiovascular disease. Yet, considerable uncertainty exists regarding its impact on psychosocial wellbeing. OBJECTIVES: We performed a systematic review and meta-analysis of the association between FH and symptoms of anxiety and depression, and health-related quality of life (HRQL). METHODS: We searched MEDLINE, EMBASE, Global Health, the Cochrane Library, PsycINFO, and PubMed for peer-reviewed literature published in English between January 1, 1990 and January 1, 2018...
June 2018: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/29747383/current-role-of-lipoprotein-apheresis-in-the-treatment-of-high-risk-patients
#4
REVIEW
Ulrich Julius
Lipoprotein apheresis (LA) is a therapeutic approach to save the lives of patients who are at an extremely high risk of developing cardiovascular events (CVE), especially after all other therapeutic options were not tolerated, or appeared not to be effective enough. Homozygous familial hypercholesterolemia represents a clear indication to start LA therapy. Another recognized indication is a severe hypercholesterolemia, which induced CVE, often in association with other risk factors. In the last years, an expressive elevation of lipoprotein(a) (Lp(a)) emerged as an indication for LA...
May 9, 2018: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29727688/profiling-and-leveraging-relatedness-in-a-precision-medicine-cohort-of-92-455-exomes
#5
Jeffrey Staples, Evan K Maxwell, Nehal Gosalia, Claudia Gonzaga-Jauregui, Christopher Snyder, Alicia Hawes, John Penn, Ricardo Ulloa, Xiaodong Bai, Alexander E Lopez, Cristopher V Van Hout, Colm O'Dushlaine, Tanya M Teslovich, Shane E McCarthy, Suganthi Balasubramanian, H Lester Kirchner, Joseph B Leader, Michael F Murray, David H Ledbetter, Alan R Shuldiner, George D Yancoupolos, Frederick E Dewey, David J Carey, John D Overton, Aris Baras, Lukas Habegger, Jeffrey G Reid
Large-scale human genetics studies are ascertaining increasing proportions of populations as they continue growing in both number and scale. As a result, the amount of cryptic relatedness within these study cohorts is growing rapidly and has significant implications on downstream analyses. We demonstrate this growth empirically among the first 92,455 exomes from the DiscovEHR cohort and, via a custom simulation framework we developed called SimProgeny, show that these measures are in line with expectations given the underlying population and ascertainment approach...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29714125/multivariate-analysis-for-coronary-heart-disease-in-heterozygote-familial-hypercholesterolemia-patients
#6
Juan Francisco Sánchez Muñoz-Torrero, Maria D Rivas, Jose Zamorano, Pedro Pablo Joya-Vázquez, Leopoldo Perez de Isla, Teresa Padro, Pedro Mata, The Safeheart Investigators
AIM: rs599839 polymorphism has been related with low levels of cholesterol and reduced coronary heart disease (CHD). METHODS: We investigated the frequency of this polymorphism in patients with heterozygous familial hypercholesterolemia (HeFH) in the Spanish familial hypercholesterolemia cohort, 230 with and 202 without CHD. Results & discussion: A lower G-allele prevalence was observed in HeFH patients with CHD with respect to controls, 35 versus 45%, respectively (p = 0...
March 2018: Personalized Medicine
https://www.readbyqxmd.com/read/29693183/genetic-analysis-in-a-compound-heterozygote-family-with-familial-hypercholesterolemia
#7
Fang Wang, Qin Fan, Rong Tao, Gang Gu, Ruiyan Zhang, Rui Xi
Homozygous familial hypercholesterolemia (FH) is rare, with an incidence of ~one in a million and commonly presents with a genetic mutation. The genetic variations of families with FH were clinically analyzed to investigate the association between the phenotype and genotype of patients. Direct sequencing was conducted for the proband and her parents to detect mutations in the fragment of 18 exons of the low‑density lipoprotein receptor (LDLR) and apolipoprotein B100 Q3500R in the peripheral blood genomic DNA...
April 20, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29650402/proprotein-convertase-subtilisin-kexin-type-9-pcsk9-inhibitor-use-in-the-management-of-resistant-hypercholesterolemia-induced-by-mitotane-treatment-for-adrenocortical-cancer
#8
Efthymia D Tsakiridou, Evangelos Liberopoulos, Zoe Giotaki, Stelios Tigas
We report the case of a patient with probable heterozygous familial hypercholesterolemia and mitotane-induced resistant hypercholesterolemia, despite combination therapy with rosuvastatin and ezetimibe. The patient was managed with the addition of evolocumab. Use of a proprotein convertase subtilisin-kexin type 9 inhibitor, should be considered in patients who develop mitotane-related hypercholesterolemia that cannot be managed with conventional lipid-lowering treatment.
March 13, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29603377/lipoprotein-a-level-associates-with-coronary-artery-disease-rather-than-carotid-lesions-in-patients-with-familial-hypercholesterolemia
#9
Di Sun, Bing-Yang Zhou, Xi Zhao, Sha Li, Cheng-Gang Zhu, Yuan-Lin Guo, Ying Gao, Na-Qiong Wu, Geng Liu, Qian Dong, Jian-Jun Li
BACKGROUND: Lipoprotein(a) [Lp(a)] level is a novel risk factor for atherosclerotic cardiovascular disease in patients with familial hypercholesterolemia (FH), while its impact on the different sites of arteries remains undetermined. We aim to examine the associations of Lp(a) levels with coronary and carotid atherosclerosis in patients with heterozygous FH (HeFH). METHODS: A total of 148 patients with HeFH who have received carotid ultrasonography and coronary angiography due to chest pain were enrolled...
March 30, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29548678/prescribing-patterns-of-proprotein-convertase-subtilisin-kexin-type-9-inhibitors-in-eligible-patients-with-clinical-atherosclerotic-cardiovascular-disease-or-heterozygous-familial-hypercholesterolemia
#10
Dean G Karalis, Usha G Mallya, Ameen F Ghannam, Joseph Elassal, Rishab Gupta, Susan H Boklage
Two proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors are approved for patients with atherosclerotic cardiovascular disease or heterozygous familial hypercholesterolemia who require additional low-density lipoprotein cholesterol (LDL-C) lowering. This retrospective study sought to determine differences between eligible patients who were prescribed and those who were not prescribed a PCSK9 inhibitor. Patients from an electronic medical record database were included in the analysis, and their demographic, clinical, and treatment characteristics were evaluated...
May 15, 2018: American Journal of Cardiology
https://www.readbyqxmd.com/read/29531935/a-rare-missense-mutation-and-a-polymorphism-with-high-frequency-in-ldlr-gene-among-iranian-patients-with-familial-hypercholesterolemia
#11
Masoud Tajamolian, Parisa Kolahdouz, Parvaneh Nikpour, Seyed Khalil Forouzannia, Mohammad Hasan Sheikhha, Ehsan Farashahi Yazd
Background: Familial hypercholesterolemia (FH) is a disorder that is inherited by autosomal dominant pattern. The main cause of FH disease is the occurrence of mutations in low-density lipoprotein receptor (LDLR) gene sequence, as well as apolipoprotein B and proprotein convertase subtilisin/kexin type 9 genes, located in the next ranks, respectively. Materials and Methods: Forty-five unrelated Iranian patients with FH were screened using a high-resolution melting (HRM) method for exon 9 along with intron/exon boundaries of LDLR gene...
2018: Advanced Biomedical Research
https://www.readbyqxmd.com/read/29525445/alirocumab-in-high-risk-patients-observations-from-the-open-label-expanded-use-program
#12
Charles J Glueck, Alan Brown, Anne C Goldberg, James M McKenney, Louis Kantaros, John Stewart, Joseph Elassal, Andrew Koren
BACKGROUND: The alirocumab expanded use program provided open-label access to alirocumab before its commercial availability to patients with severe hypercholesterolemia not controlled with maximally tolerated doses of standard-of-care lipid-lowering therapy. OBJECTIVE: To describe the safety and lipid-lowering efficacy of alirocumab in high-risk patients who were likely to be early users of proprotein convertase subtilisin/kexin type 9 inhibitors after approval...
February 7, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29523491/cascade-screening-program-for-familial-hypercholesterolemia
#13
Patricia Rubio-Marín, Alfredo Michán-Doña, Juan Maraver-Delgado, Raquel Arroyo-Olivares, Rosalía Barrado Varea, Leopoldo Pérez de Isla, Pedro Mata
INTRODUCTION AND OBJECTIVE: Early detection of heterozygous familial hypercholesterolemia (HFH) is needed to prevent premature cardiovascular events. Our aim isto describe the course of an HFH screening detection day in the Northern Cadiz Health Area in Spain and to analyze the data recorded. SUBJECTS AND METHODS: Descriptive study of an FH cascade screening program. Index cases (ICs) and their 1st and 2nd grade relatives were appointed during a weekend by the FH Foundation...
May 2018: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/29511875/evolocumab-considerations-for-the-management-of-hyperlipidemia
#14
REVIEW
Barbara S Wiggins, Jeffrey Senfield, Helina Kassahun, Armando Lira, Ransi Somaratne
PURPOSE OF REVIEW: To review the efficacy, safety, pharmacology, and pharmacokinetics of evolocumab, a proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor. RECENT FINDINGS: PCSK9 inhibitors are a class of lipid-lowering agents that significantly reduce low-density lipoprotein cholesterol (LDL-C) levels in patients with atherosclerotic cardiovascular disease and hyperlipidemia. Evolocumab is a monoclonal antibody that inhibits PCSK9 and has been evaluated in phase II and III studies as monotherapy, in combination with statins and other lipid-lowering therapies, in patients who are statin intolerant, and in patients with heterozygous and homozygous familial hypercholesterolemia...
March 6, 2018: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/29502162/multimodal-lipid-lowering-treatment-in-pediatric-patients-with-homozygous-familial-hypercholesterolemia-target-attainment-requires-further-increase-of-intensity
#15
Günter Klaus, Christina Taylan, Rainer Büscher, Claus Peter Schmitt, Lars Pape, Jun Oh, Joenna Driemeyer, Matthias Galiano, Jens König, Carsten Schürfeld, Ralf Spitthöver, Juergen R Schaefer, Lutz T Weber, Andreas Heibges, Reinhard Klingel
BACKGROUND: Familial hypercholesterolemia (FH) causes premature cardiovascular disease (CVD). Lipoprotein apheresis (LA) is recommended as first-line lipid-lowering treatment (LLT) for homozygous (ho) FH. METHODS: Efficacy of multimodal LLT including lifestyle counseling, drug treatment, and LA was analyzed in 17 pediatric hoFH or compound heterozygous (c-het) FH patients, who commenced chronic LA in Germany before the age of 18. RESULTS: At time of diagnosis, mean low-density lipoprotein cholesterol (LDL-C) concentration was 19...
March 3, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29499359/statin-utilization-and-lipid-goal-attainment-in-high-or-very-high-cardiovascular-risk-patients-insights-from-italian-general-practice
#16
Marcello Arca, David Ansell, Maurizio Averna, Francesca Fanelli, Katherine Gorcyca, Şerban R Iorga, Aldo P Maggioni, Georges Paizis, Radovan Tomic, Alberico L Catapano
BACKGROUND AND AIMS: Statin utilization and lipid goal achievement were estimated in a large sample of Italian patients at high/very-high cardiovascular (CV) risk. METHODS: Patients aged ≥18 years with a valid low-density lipoprotein cholesterol (LDL-C) measurement in 2015 were selected from the IMS Health Real World Data database; non-high-density lipoprotein cholesterol (non-HDL-C) was assessed in those with available total cholesterol measurements. Index dates were defined as the last valid lipid measurement in 2015...
April 2018: Atherosclerosis
https://www.readbyqxmd.com/read/29498875/-the-role-of-pcsk9-inhibitors-and-of-lipoprotein-apheresis-in-the-treatment-of-homozygous-and-severe-heterozygous-familial-hypercholesterolemia-a-rivalry-or-are-things-quite-different
#17
Vladimír Bláha, Milan Bláha, Miriam Lánská, Eduard Havel, Pavel Vyroubal, Zdeněk Zadák, Pavel Žák
PCSK9-inhibitors belong to the new class of hypolipidemic agents. They enhance catabolism of low density lipoprotein cholesterol (LDL-C) through inhibiting activity of proprotein convertase subtilisin/kexin type 9 (PCSK9). They are monoclonal antibodies (alirocumab, evolocumab etc). Under clinical development are also other types of PCSK9-inhibitors which act at a subcellular level. The treatment with PCSK9-inhibitors can be beneficially combined with lipoprotein apheresis (LA). If such treatment using PCSK9-inhibitors is possible with regard to an individual patients genotype, the combination of LA and PCSK9-inhibitors leads to slowing the space of LDL-C increase between individual procedures of apheresis and enables attaining of the lowest possible values of LDL-cholesterolemia for the longest possible period of time...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29498874/-medped-the-reality-of-familial-hypercholesterolemia-care-at-the-biggest-center
#18
Martina Vaclová, Tomáš Freiberger, Lucie Schwarzová, Lukáš Tichý, Michal Vrablík, Richard Češka
The MedPed project (Make Early Diagnosis to Prevent Early Deaths) aiming at screening, diagnosis and treatment of patients with familial hypercholesterolemia (FH) was initiated more than 19 years ago. More than 60 cooperating centers and a large number of health care professionals have been involved. Till November 15, 2017 the nationwide database has comprised 7 567 entries of individual FH patients, 439 of these being children up to 19 years of age. Given the recently corrected estimated population frequency of FH of 1 to 250 this number represents 18...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29472008/efficacy-and-safety-of-alirocumab-in-high-risk-patients-with-clinical-atherosclerotic-cardiovascular-disease-and-or-heterozygous-familial-hypercholesterolemia-from-5-placebo-controlled-odyssey-trials
#19
Peter A McCullough, Christie M Ballantyne, Santosh K Sanganalmath, Gisle Langslet, Seth J Baum, Prediman K Shah, Andrew Koren, Jonas Mandel, Michael H Davidson
Patients with previous atherosclerotic cardiovascular disease (ASCVD) and/or heterozygous familial hypercholesterolemia (HeFH) are at high risk of future cardiovascular events. Despite maximally tolerated doses of statins, many patients still have elevated low-density lipoprotein cholesterol (LDL-C) levels. We evaluated the efficacy and safety of alirocumab in patients with ASCVD and/or HeFH on a maximally tolerated dose of statin (rosuvastatin 20 or 40 mg, atorvastatin 40 or 80 mg, or simvastatin 80 mg, or lower doses with an investigator-approved reason) ± other lipid-lowering therapies from 5 placebo-controlled phase 3 trials (52 to 78 weeks)...
April 15, 2018: American Journal of Cardiology
https://www.readbyqxmd.com/read/29449335/bempedoic-acid-lowers-low-density-lipoprotein-cholesterol-and-attenuates-atherosclerosis-in-low-density-lipoprotein-receptor-deficient-ldlr-and-ldlr-yucatan-miniature-pigs
#20
Amy C Burke, Dawn E Telford, Brian G Sutherland, Jane Y Edwards, Cynthia G Sawyez, P Hugh R Barrett, Roger S Newton, J Geoffrey Pickering, Murray W Huff
OBJECTIVE: Bempedoic acid (BemA; ETC-1002) is a novel drug that targets hepatic ATP-citrate lyase to reduce cholesterol biosynthesis. In phase 2 studies, BemA lowers elevated low-density lipoprotein cholesterol (LDL-C) in hypercholesterolemic patients. In the present study, we tested the ability of BemA to decrease plasma cholesterol and LDL-C and attenuate atherosclerosis in a large animal model of familial hypercholesterolemia. APPROACH AND RESULTS: Gene targeting has been used to generate Yucatan miniature pigs heterozygous ( LDLR +/- ) or homozygous ( LDLR -/- ) for LDL receptor deficiency (ExeGen)...
May 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
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