keyword
MENU ▼
Read by QxMD icon Read
search

Heterozygous familial hypercholesterolemia

keyword
https://www.readbyqxmd.com/read/27908345/determining-when-to-add-nonstatin-therapy-a-quantitative-approach
#1
Jennifer G Robinson, Roeland Huijgen, Kausik Ray, Jane Persons, John J P Kastelein, Michael J Pencina
BACKGROUND: Costs and uncertainty about the benefits of nonstatin therapies limit their use. OBJECTIVES: The authors sought to identify patients who might benefit from the addition of a nonstatin to background statin therapy. METHODS: We performed systematic reviews of subgroup analyses from randomized trials and observational studies with statin-treated participants to determine estimated 10-year absolute risk of atherosclerotic cardiovascular disease (ASCVD) and to define high-risk and very high-risk patients...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27888902/-unmet-needs-patients-with-statin-intolerance-or-familial-hypercholesterolemia
#2
Luis Masana, Fernando Civeira
The achievement of low-density lipoprotein (LDL) therapeutic targets is especially difficult in some patients at high cardiovascular risk. These patients include persons with statin intolerance and those with very high LDL cholesterol (LDLc) levels such as persons with familial hypercholesterolemia. The proportion of statin-intolerant patients is between 7% and 29%. Alternative lipid-lowering drugs (including ezetimibe) are less effective and are not free from adverse effects. Both alirocumab, with the ODYSSEY ALTERNATIVE study, and evolocumab, with the GAUSS study, have shown strong lipid-lowering efficacy, with much greater tolerability than currently available alternatives, with the result that a larger number of patients achieve therapeutic targets...
May 2016: Clínica e Investigación en Arteriosclerosis
https://www.readbyqxmd.com/read/27886619/open-label-therapy-with-alirocumab-in-patients-with-heterozygous-familial-hypercholesterolemia-results-from-three-years-of-treatment
#3
Robert Dufour, Jean Bergeron, Daniel Gaudet, Robert Weiss, G Kees Hovingh, Zhizhi Qing, Feng Yang, Matthew Andisik, Albert Torri, Robert Pordy, Daniel A Gipe
BACKGROUND: PCSK9 inhibition with alirocumab significantly reduced LDL-C levels in trials of up to 78weeks' duration in patients with heterozygous familial hypercholesterolemia (HeFH). We report results from 3years of an ongoing open-label treatment extension (NCT01576484) to a 12-week double-blind trial in HeFH patients (NCT01266876). METHODS: Patients who completed the parent study and were receiving stable daily statin±ezetimibe could enter the open-label extension, where they received alirocumab 150mg every 2 weeks (Q2W) subcutaneously (n=58)...
November 9, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27878139/compound-heterozygous-ldlr-variant-in-severely-affected-familial-hypercholesterolemia-patient
#4
Faisal A Al-Allaf, Abdullah Alashwal, Zainularifeen Abduljaleel, Mohiuddin M Taher, Abdellatif Bouazzaoui, Hala Abalkhail, Ahmad F Al-Allaf, Mohammad Athar
Familial hypercholesterolemia (FH) is most commonly caused by mutations in the LDL receptor (LDLR), which is responsible for hepatic clearance of LDL from the blood circulation. We described a severely affected FH proband and their first-degree blood relatives; the proband was resistant to statin therapy and was managed on an LDL apheresis program. In order to find the causative genetic variant in this family, direct exon sequencing of the LDLR, APOB and PCSK9 genes was performed. We identified a compound heterozygous mutation in the proband with missense p...
November 23, 2016: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/27861771/high-density-lipoprotein-associated-sphingosine-1-phosphate-activity-in-heterozygous-familial-hypercholesterolaemia
#5
Miguel A Frias, Aurélien Thomas, Marie-Claude Brulhart-Meynet, Oskar Kövamees, John Pernow, Mats Eriksson, Bo Angelin, Richard W James, Jonas W Brinck
BACKGROUND: Patients with heterozygous familial hypercholesterolaemia (FH) suffer from high plasma cholesterol and an environment of increased oxidative stress. We examined its potential effects on high-density lipoprotein (HDL)-associated sphingosine-1-phosphate (S1P) content (HDL-S1P) and HDL-mediated protection against oxidative stress, both with and without statin treatment. MATERIALS AND METHODS: In a case-control study, HDL was isolated from 12 FH patients with and without statin treatment and from 12 healthy controls...
November 11, 2016: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27830735/the-use-of-targeted-exome-sequencing-in-genetic-diagnosis-of-young-patients-with-severe-hypercholesterolemia
#6
Long Jiang, Wen-Feng Wu, Li-Yuan Sun, Pan-Pan Chen, Wei Wang, Asier Benito-Vicente, Fan Zhang, Xiao-Dong Pan, Wei Cui, Shi-Wei Yang, Yu-Jie Zhou, Cesar Martin, Lu-Ya Wang
Familial hypercholesterolemia (FH) is an autosomal dominant disorder. Although genetic testing is an important tool for detecting FH-causing mutations in patients, diagnostic methods for young patients with severe hypercholesterolemia are understudied. This study compares the target exome sequencing (TES) technique with the DNA resequencing array technique on young patients with severe hypercholesterolemia. A total of 20 unrelated patients (mean age 14.8 years) with total cholesterol > 10 mmol/L were included...
November 10, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27830118/variable-phenotypic-expression-of-nonsense-mutation-p-thr5-in-the-apoe-gene
#7
Trond P Leren, Thea Bismo Strøm, Knut Erik Berge
Subjects with hypercholesterolemia who do not carry a mutation in the low density lipoprotein receptor gene, in the apolipoprotein B gene or in the proprotein convertase subtilisin/kexin type 9 gene, could possible carry a mutation in the apolipoprotein E (APOE) gene. DNA from 844 unrelated hypercholesterolemic subjects who did not carry a mutation in any of the three above mentioned genes, was subjected to DNA sequencing of the APOE gene. Two subjects were found to be heterozygous for mutation p.Thr5*. This mutation which generates a stop codon in the signal peptide, is assumed to prevent the synthesis of APOE...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27816806/spectrum-of-mutations-in-homozygous-familial-hypercholesterolemia-in-india-with-four-novel-mutations
#8
Nitika Setia, Renu Saxena, Anjali Arora, Ishwar C Verma
BACKGROUND AND AIMS: Homozygous familial hypercholesterolemia (FH) is a rare but serious, inherited disorder of lipid metabolism characterized by very high total and LDL cholesterol levels from birth. It presents as cutaneous and tendon xanthomas since childhood, with or without cardiac involvement. FH is commonly caused by mutations in three genes, i.e. LDL receptor (LDLR), apolipoprotein B (ApoB) and PCSK9. We aimed to determine the spectrum of mutations in cases of homozygous FH in Asian Indians and evaluate if there was any similarity to the mutations observed in Caucasians...
October 14, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27797643/modern-management-of-familial-hypercholesterolemia
#9
P Barton Duell, Ishwarlal Jialal
Familial hypercholesterolemia (FH) is a common genetic disorder that can manifest clinically as both the severe homozygous (HoFH) form that often presents in childhood and the commoner heterozygous (HeFH) form that is typically identified in adults. The majority of genetic causes are due to defects in low-density lipoprotein (LDL) receptor synthesis and action. Until recently, it was exceedingly difficult to achieve the goal of a 50% reduction in LDL-cholesterol or LDL-C < 70-100 in these patients. Established therapies include statins, niacin, bile-acid sequestrants, and ezetimibe in various combinations...
December 2016: Metabolic Syndrome and related Disorders
https://www.readbyqxmd.com/read/27784878/corrigendum-efficacy-and-safety-of-alirocumab-in-japanese-patients-with-heterozygous-familial-hypercholesterolemia-or-at-high-cardiovascular-risk-with-hypercholesterolemia-not-adequately-controlled-with-statins%C3%A3-odyssey-japan-randomized-controlled-trial
#10
Tamio Teramoto, Masahiko Kobayashi, Hiromi Tasaki, Hiroaki Yagyu, Toshinori Higashikata, Yoshiharu Takagi, Kiyoko Uno, Marie T Baccara-Dinet, Atsushi Nohara
No abstract text is available yet for this article.
2016: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/27784735/homozygous-familial-hypercholesterolemia-in-spain-prevalence-and-phenotype-genotype-relationship
#11
Rosa M Sánchez-Hernández, Fernando Civeira, Marianne Stef, Sofía Perez-Calahorra, Fátima Almagro, Nuria Plana, Francisco J Novoa, Pedro Sáenz-Aranzubía, Daniel Mosquera, Cristina Soler, Francisco J Fuentes, Yeray Brito-Casillas, José T Real, Francisco Blanco-Vaca, Juan F Ascaso, Miguel Pocoví
BACKGROUND: -Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease (ASCVD). HoFH is caused by mutations in several genes, including LDL receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and LDL protein receptor adaptor 1 (LDLRAP1). No epidemiological studies have assessed HoFH prevalence, or the clinical and molecular characteristics of this condition...
October 26, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27765764/polygenic-versus-monogenic-causes-of-hypercholesterolemia-ascertained-clinically
#12
Jian Wang, Jacqueline S Dron, Matthew R Ban, John F Robinson, Adam D McIntyre, Maher Alazzam, Pei Jun Zhao, Allison A Dilliott, Henian Cao, Murray W Huff, David Rhainds, Cécile Low-Kam, Marie-Pierre Dubé, Guillaume Lettre, Jean-Claude Tardif, Robert A Hegele
OBJECTIVE: Next-generation sequencing technology is transforming our understanding of heterozygous familial hypercholesterolemia, including revision of prevalence estimates and attribution of polygenic effects. Here, we examined the contributions of monogenic and polygenic causes in patients with severe hypercholesterolemia referred to a specialty clinic. APPROACH AND RESULTS: We applied targeted next-generation sequencing with custom annotation, coupled with evaluation of large-scale copy number variation and polygenic scores for raised low-density lipoprotein cholesterol in a cohort of 313 individuals with severe hypercholesterolemia, defined as low-density lipoprotein cholesterol >5...
October 20, 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/27756478/effect-on-fasting-serum-glucose-levels-of-adding-ezetimibe-to-statins-in-patients-with-nondiabetic-hypercholesterolemia
#13
Peter P Toth, Alberico L Catapano, Michel Farnier, Joanne Foody, Joanne E Tomassini, Erin Jensen, Adam B Polis, Mary E Hanson, Thomas A Musliner, Andrew M Tershakovec
Statin therapy is associated with a slightly increased risk of developing diabetes mellitus and insulin resistance in patients without diabetes. Ezetimibe combined with statins may be considered for high-risk patients who do not achieve optimal low-density lipoprotein cholesterol lowering on statin monotherapy or who are statin intolerant. Changes in fasting serum glucose (FSG) levels during ezetimibe, ezetimibe/statin, and statin treatments were assessed using data pooled from clinical trials in hypercholesterolemic and heterozygous familial hypercholesterolemic patients, who were or were not receiving statin therapy...
December 15, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/27756331/impact-of-selective-ldl-apheresis-on-serum-chemerin-levels-in-patients-with-hypercholesterolemia
#14
Viktória E Varga, Hajnalka Lőrincz, Noémi Zsíros, Péter Fülöp, Ildikó Seres, György Paragh, József Balla, Mariann Harangi
BACKGROUND: Selective low-density lipoprotein (LDL) apheresis is commonly used to treat patients with familial hypercholesterolemia (FH). Chemerin is an adipokine with putative roles in the regulation of lipid metabolism. METHODS: In our pilot study, we measured serum chemerin levels by enzyme-linked immunosorbent assay in six severe heterozygous FH patients before and after their first LDL apheresis treatments using the technique of direct adsorption of lipoproteins (DALI)...
October 18, 2016: Lipids in Health and Disease
https://www.readbyqxmd.com/read/27750108/drug-treatment-and-adherence-of-subjects-40-years-with-diagnosis-of-heterozygous-familial-hypercholesterolemia
#15
Manuela Casula, Lorenza Scotti, Elena Tragni, Luca Merlino, Giovanni Corrao, Alberico L Catapano
BACKGROUND AND AIMS: We aimed at describing the therapeutic approach in young adult patients diagnosed with heterozygous familial hypercholesterolemia (HeFH) and their adherence and persistence to treatment. METHODS: From regional administrative databases, individuals aged ≤40 years, who received exemption for HeFH between January 1, 2003 and December 31, 2011, and concomitantly started statin treatment, were identified. Within the first year of treatment, we evaluated therapeutic changes, adherence as MPR (medication possession ratio), persistence as continuous drug coverage without gaps ≥60 days, and influencing factors using log binomial models...
October 12, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27718491/a-10-year-experience-using-combined-lipid-lowering-pharmacotherapy-in-children-and-adolescents
#16
María Beatriz Araujo, María Sol Pacce
BACKGROUND: Current pediatric guidelines for heterozygous familial hypercholesterolemia (HeFH) propose pharmacotherapy (PT) with statins from age 8 to 10 years; however, schemes with absorption inhibitors combined with statins, could be started earlier. The aim of the study was to show the 10-year results of a combined treatment protocol. METHODS: Prospective, descriptive and analytical study. Pediatric patients (n=70; mean age at PT initiation 9.3 years [range, 2-17...
October 8, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27717231/heterozygous-familial-hypercholesterolemia-we-must-develop-a-new-clinical-paradigm
#17
Douglas S Moodie
No abstract text is available yet for this article.
September 2016: Congenital Heart Disease
https://www.readbyqxmd.com/read/27678436/ten-years-of-lipoprotein-apheresis-for-familial-hypercholesterolemia-in-malaysia-a-creative-approach-by-a-cardiologist-in-a-developing-country
#18
Kah Lin Khoo, Michael M Page, Yin Mei Liew, Joep C Defesche, Gerald F Watts
BACKGROUND: Familial hypercholesterolemia (FH) leads to premature coronary artery disease and aortic stenosis, with undertreated severe forms causing death at a young age. Lipoprotein apheresis (LA) is often required for lowering low-density lipoprotein cholesterol levels in severe FH. OBJECTIVES: The objective of this study was to present the first experiences with LA in Malaysia, between 2004 and 2014. METHODS: We retrospectively collected data from patient records to assess the effectiveness, adverse effects, patient quality of life, and costs associated with an LA service for genetically confirmed homozygous and heterozygous FH...
September 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27678432/a-3-year-study-of-atorvastatin-in-children-and-adolescents-with-heterozygous-familial-hypercholesterolemia
#19
Gisle Langslet, Andrei Breazna, Euridiki Drogari
BACKGROUND: The efficacy and safety of atorvastatin in children/adolescents aged 10-17 years with heterozygous familial hypercholesterolemia (HeFH) have been demonstrated in trials of up to 1 year in duration. However, the efficacy/safety of >1 year use of atorvastatin in children/adolescents with HeFH, including children from 6 years of age, has not been assessed. OBJECTIVE: To characterize the efficacy and safety of atorvastatin over 3 years and to assess the impact on growth and development in children aged 6-15 years with HeFH...
September 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27678429/the-very-high-cardiovascular-risk-in-heterozygous-familial-hypercholesterolemia-analysis-of-734-french-patients
#20
Sophie Béliard, Aurélie Millier, Valérie Carreau, Alain Carrié, Philippe Moulin, Alexandre Fredenrich, Michel Farnier, Gérald Luc, David Rosenbaum, Mondher Toumi, Eric Bruckert
BACKGROUND: Heterozygous familial hypercholesterolemia (heFH) is a genetic disease causing high levels of low-density lipoprotein cholesterol (LDL-C). Although this population is at high cardiovascular (CV) risk, the risk is variable within patients depending on additional risk factors. CV disease risk groups have been defined by the Nouvelle Société Francophone d'Athérosclérose (NSFA) and by the National Lipid Association recommendations. OBJECTIVES: The study aimed to describe a sample of French heFH patients, comparing patients at very high risk (VHR) and patients at high risk in terms of demographic and clinical characteristics as well as biological measurements and disease management...
September 2016: Journal of Clinical Lipidology
keyword
keyword
109157
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"