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Heterozygous familial hypercholesterolemia

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https://www.readbyqxmd.com/read/28059950/phenotype-vs-genotype-in-severe-familial-hypercholesterolemia-what-matters-most-for-the-clinician
#1
Raul D Santos
PURPOSE OF THE REVIEW: Familial hypercholesterolemia is associated with a high lifetime risk of atherosclerotic cardiovascular disease (ASCVD). However, this risk is variable. This review evaluates recent evidence related to ASCVD risk stratification in familial hypercholesterolemia considering aspects of phenotype and genotype. RECENT FINDINGS: The heterogeneity in clinical, laboratory characteristics, and in ASCVD risk in both homozygous and heterozygous familial hypercholesterolemia individuals in part can be attributed to the type of molecular defect...
January 5, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28052405/myocardial-layer-specific-analysis-in-patients-with-heterozygous-familial-hypercholesterolemia-using-speckle-tracking-echocardiography
#2
Zhaoting Leng, Rongjuan Li, Yijia Li, Lvya Wang, Yueli Wang, Ya Yang
OBJECTIVE: Familial hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipid metabolism, causing premature coronary heart disease (CHD) due to accelerated atherosclerosis from birth, and the study of left ventricular (LV) function of this disease is seldom. The purpose of this study was to explore the value of layer-specific strain on assessing the early damage of LV function in asymptomatic and left ventricular ejection fraction (LVEF) well-preserved patients with heterozygous FH (HeFH)...
January 3, 2017: Echocardiography
https://www.readbyqxmd.com/read/28012444/carotid-artery-plaques-and-intima-medial-thickness-in-familial-hypercholesteraemic-patients-on-long-term-statin-therapy-a-case-control-study
#3
Sven Bos, Martijne H C Duvekot, Gert-Jan R Ten Kate, Adrie J M Verhoeven, Monique T Mulder, Arend F L Schinkel, Koen Nieman, Gerald F Watts, Eric J G Sijbrands, Jeanine E Roeters van Lennep
BACKGROUND AND AIMS: Statins reduce subclinical atherosclerosis and premature atherosclerotic cardiovascular disease (ASCVD) in patients with familial hypercholesterolemia (FH). However, some FH patients still develop ASCVD despite statin therapy. We compared subclinical atherosclerosis assessed by carotid plaque presence and intima media thickness (C-IMT), in long-term statin-treated FH patients and healthy controls. Furthermore, we analysed whether carotid ultrasonography findings associated with subclinical coronary atherosclerosis...
December 2, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27993383/old-challenges-and-new-opportunities-in-the-clinical-management-of-heterozygous-familial-hypercholesterolemia-hefh-the-promises-of-pcsk9-inhibitors
#4
REVIEW
Marcello Arca
Heterozygous familial hypercholesterolemia (HeFH) is a common (early estimates suggested a prevalence of 1 in 500 individuals, but recent studies have indicated that it may be higher) genetic disorder characterized by markedly elevated plasma concentrations of low-density lipoprotein cholesterol (LDL-C). HeFH is associated with an elevated risk of premature coronary heart disease, stroke, and peripheral vascular disease. Despite the availability of reliable diagnostic criteria (high LDL-C levels, family history or premature CHD and hypercholesterolemia, cerebral/peripheral vascular disease, and the presence of tendon xanthomata or presence of arcus cornealis before age of 45), HeFH is underdiagnosed and undertreated worldwide...
September 2, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#5
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27931859/contemporary-trends-in-the-management-and-outcomes-of-patients-with-familial-hypercholesterolemia-in-canada-a%C3%A2-prospective-observational-study
#6
Liam R Brunham, Lubomira Cermakova, Terry Lee, Ida Priecelova, Karine Alloul, Marilyn de Chantal, Gordon A Francis, Jiri Frohlich
BACKGROUND: Heterozygous familial hypercholesterolemia (HeFH) is one of the most common genetic diseases in the world and an important cause of premature cardiovascular (CV) disease. The purpose of this study was to characterize the clinical features, current treatment patterns, and CV outcomes of patients with HeFH in British Columbia, Canada. METHODS: We conducted a longitudinal observational study of patients with HeFH attending a specialized lipid clinic. We collected data on lipid levels, medication use, and CV events at baseline and last follow-up...
September 3, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27908345/determining-when-to-add-nonstatin-therapy-a-quantitative-approach
#7
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
#8
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
#9
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)...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27878139/compound-heterozygous-ldlr-variant-in-severely-affected-familial-hypercholesterolemia-patient
#10
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
#11
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...
January 2017: 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
#12
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
#13
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
#14
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...
December 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27797643/modern-management-of-familial-hypercholesterolemia
#15
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
#16
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
#17
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, Jose T Real, Francisco Blanco-Vaca, Juan F Ascaso, Miguel Pocovi
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. 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...
December 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27765764/polygenic-versus-monogenic-causes-of-hypercholesterolemia-ascertained-clinically
#18
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
#19
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
#20
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
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