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Heterozygous familial hypercholesterolemia

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https://www.readbyqxmd.com/read/29129821/association-between-lipoprotein-a-and-proprotein-convertase-substilisin-kexin-type-9-in-patients-with-heterozygous-familial-hypercholesterolemia-a-case-control-study
#1
Di Sun, Sha Li, Xi Zhao, Na-Qiong Wu, Cheng-Gang Zhu, Yuan-Lin Guo, Ying Gao, Ping Qing, Chuan-Jue Cui, Geng Liu, Jing Sun, Qian Dong, Jian-Jun Li
BACKGROUND: Recent data have suggested an important role of lipoprotein (a) [Lp(a)] and proprotein convertase substilisin/kexin type 9 (PCSK9) in the development of atherosclerotic cardiovascular disease (ASCVD) in both general population and family hypercholesterolemia (FH), while the relation of Lp(a) to PCSK9 has not been examined. OBJECTIVE: The aim of the present study was to investigate the association between plasma PCSK9 and Lp(a)in patients with heterozygous FH (HeFH)...
November 9, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29114919/circulating-progenitor-cells-in-patients-with-familial-hypercholesterolemia
#2
P B Sandesara, V Ramjee, N Ghasemzadeh, Y Guo, N Bhatia, Q Li, L Vaughn, C Nell-Dybdahl, E K Waller, E A Mahar, K Brigham, P W F Wilson, A Quyyumi, N-A Le, L S Sperling
OBJECTIVE: Familial hypercholesterolemia (FH) is a genetic disease with very high levels of circulating low density lipoprotein cholesterol (LDL-C) levels that leads to accelerated atherosclerosis. Lipoprotein apheresis is an effective treatment option for patients with FH and results in reduced cardiovascular morbidity and mortality. Circulating progenitor cells (CPCs) are markers of overall vascular health and diminished levels have been associated with decreased reparative potential and worse outcomes...
November 8, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/29096860/current-insights-into-the-german-lipoprotein-apheresis-standard-pcsk9-inhibitors-lipoprotein-apheresis-or-both
#3
V J J Schettler, J Ringel, S Jacob, U Julius, R Klingel, F Heigl, E Roeseler, P Grützmacher
According to current European guidelines, lipid lowering therapy for progressive cardiovascular disease including cardiovascular events has to be focused on a target level for LDL-C. In contrast for Lp(a) a threshold has to be defined with respect to the method of measurement. However, due to new lipid lowering drug developments like PCSK9-inhibitors (PCSK-9-I) a therapeutic algorithm for patients with severe hypercholesterolemia or isolated Lipoprotein(a)-hyperlipoproteinemia with progressive cardiovascular disease may be necessary to manage the use of PCSK9-I, lipoprotein apheresis (LA) or both...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29096827/pleiotropic-effects-of-regular-lipoprotein-apheresis
#4
Helmut Sinzinger, Sabine Steiner, Kurt Derfler
BACKGROUND: Lipoprotein(LP)-apheresis is the treatment of choice in patients suffering from severe familial hypercholesterolemia. A wide range of mechanisms has been claimed to be responsible for the known clinical benefit. METHODS: Patients suffering from heterozygous familial hypercholesterolemia undergoing LP-apheresis either with direct adsorption of lipoproteins (DALI) or dextran sulfate (DS) were examined. A total volume of 10 l blood was exchanged. Non-lipid effects, mainly concerning endothelial function (circulating endothelial cells, circulating endothelial progenitor cells, flow-mediated vasodilation, microalbuminuria) as well as left ventricular ejection fraction and homocysteine were assessed...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29072176/premature-coronary-artery-disease-due-to-homozygous-familial-hypercholesterolemia-in-a-12-year-old-girl
#5
Filiz Ekici, Salih Özçobanoğlu, Fırat Kardelen
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare inherited metabolic disease, caused by low-density lipoprotein receptor abnormality. Patients with HoFH have an increased risk for cardiovascular complication (CVC) that usually occurs in the first decade of life. We report a twelve years-old girl with unpredicted presentation for coronary artery disease (CAD) and she was found to have HoFH. CASE REPORT: A 12 years old girl was admitted to our unit with syncope...
October 26, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/29066265/long-term-safety-tolerability-and-efficacy-of-evolocumab-in-patients-with-heterozygous-familial-hypercholesterolemia
#6
G Kees Hovingh, Frederick J Raal, Ricardo Dent, Claudia Stefanutti, Olivier Descamps, Luis Masana, Armando Lira, Ian Bridges, Blai Coll, David Sullivan
BACKGROUND: Evolocumab, a fully human monoclonal antibody against proprotein convertase subtilisin/kexin type 9, is safe and effective when dosed biweekly (Q2W) or monthly (QM) in patients with heterozygous familial hypercholesterolemia (HeFH) as demonstrated in two 12-week trials: Reduction of LDL-C With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder (RUTHERFORD; phase 2) and RUTHERFORD-2 (phase 3). OBJECTIVE: The objective of the study was to evaluate long-term efficacy, safety, and tolerability of evolocumab during open-label extension trials...
September 22, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28993804/familial-hypercholesterolemia-a-systematic-review-of-guidelines-on-genetic-testing-and-patient-management
#7
Giuseppe Migliara, Valentina Baccolini, Annalisa Rosso, Elvira D'Andrea, Azzurra Massimi, Paolo Villari, Corrado De Vito
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal-dominant hereditary disorder of lipid metabolism that causes lifelong exposure to increased LDL levels resulting in premature coronary heart disease and, if untreated, death. Recent studies have shown its prevalence to be higher than previously considered, which has important implications for the mortality and morbidity of associated cardiovascular disease (CVD). Several clinical tools are used worldwide to help physicians diagnose FH, but nevertheless most patients remain undetected...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28993407/heterozygous-null-ldlr-mutation-in-a-familial-hypercholesterolemia-patient-with-an-atypical-presentation-because-of-alcohol-abuse
#8
Kamaldeep Panach, Abhimanyu Garg, Zahid Ahmad
No abstract text is available yet for this article.
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28992466/increased-risk-of-heart-failure-and-atrial-fibrillation-in-heterozygous-familial-hypercholesterolemia
#9
Anders Hovland, Liv J Mundal, Jannicke Igland, Marit B Veierød, Kirsten B Holven, Martin P Bogsrud, Grethe S Tell, Trond P Leren, Kjetil Retterstøl
BACKGROUND AND AIMS: Heart failure (HF) and atrial fibrillation/flutter (AF) are important causes of morbidity and mortality. Subjects with familial hypercholesterolemia (FH) carry a high risk of coronary artery disease (CAD) but it is not known if the risk of HF and AF is increased in FH. The present study investigated the incidence of hospitalization for HF and AF in a genetically verified FH cohort, age 25 years and older, compared to the general population. METHODS: Incidence rates of hospitalization for HF and AF were estimated from national registry data...
November 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28965616/spectrum-of-mutations-in-italian-patients-with-familial-hypercholesterolemia-new-results-from-the-lipigen-study
#10
Angela Pirillo, Katia Garlaschelli, Marcello Arca, Maurizio Averna, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi, Alberico L Catapano
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study)...
October 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/28964736/efficacy-of-alirocumab-in-1191-patients-with-a-wide-spectrum-of-mutations-in-genes-causative-for-familial-hypercholesterolemia
#11
Joep C Defesche, Claudia Stefanutti, Gisle Langslet, Paul N Hopkins, Werner Seiz, Marie T Baccara-Dinet, Sara C Hamon, Poulabi Banerjee, John J P Kastelein
BACKGROUND: Mutation(s) in genes involved in the low-density lipoprotein receptor (LDLR) pathway are typically the underlying cause of familial hypercholesterolemia. OBJECTIVE: The objective of the study was to examine the influence of genotype on treatment responses with alirocumab. METHODS: Patients from 6 trials (n = 1191, including 758 alirocumab-treated; Clinicaltrials.gov identifiers: NCT01266876; NCT01507831; NCT01623115; NCT01709500; NCT01617655; NCT01709513) were sequenced for mutations in LDLR, apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), LDLR adaptor protein 1, and signal-transducing adaptor protein 1 genes...
September 4, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28964708/ldl-apheresis-in-japan
#12
REVIEW
Hisashi Makino, Tamiko Tamanaha, Mariko Harada-Shiba
LDL apheresis has been developed as the treatment for refractory familial hypercholesterolemia (FH). Currently, plasma exchange, double membrane filtration, and selective LDL adsorption are available in Japan, and selective LDL adsorption is most common method. LDL apheresis can prevent atherosclerosis progression even in homozygous (HoFH). However, in our observational study, HoFH who started LDL apheresis from adulthood had poor prognosis compared with patients who started from childhood. Therefore, as far as possible, HoFH patients need to start LDL apheresis from childhood...
August 31, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28947310/assessments-of-carotid-artery-plaque-burden-in-patients-with-familial-hypercholesterolemia
#13
Hayato Tada, Masa-Aki Kawashiri, Hirofumi Okada, Takuya Nakahashi, Kenji Sakata, Atsushi Nohara, Akihiro Inazu, Hiroshi Mabuchi, Masakazu Yamagishi, Kenshi Hayashi
Although both carotid intima-media thickness (cIMT) and carotid plaque score (cPS) determined by carotid ultrasonography reflect the severity of coronary atherosclerosis, there are few reports on direct comparisons of their clinical utilities in patients with familial hypercholesterolemia (FH). We aimed (1) to compare the clinical utilities of these measurements and (2) to estimate the onset and progression of carotid atherosclerosis in patients with FH. We examined 225 patients with FH (126 males; mean age, 51 ± 18 years) who underwent carotid ultrasonography...
August 30, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28941610/scavenger-receptor-lox1-genotype-predicts-coronary-artery-disease-in-patients-with-familial-hypercholesterolemia
#14
Martine Paquette, Robert Dufour, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is a monogenic disease associated with elevated low-density lipoprotein (LDL) cholesterol and oxidized LDL (oxLDL) leading to premature cardiovascular disease. Lectin-like oxLDL receptor-1 (LOX1) is one of the major contributors of oxLDL uptake and degradation in macrophages, which leads to foam cell formation and the development of atherosclerosis. This study investigated the effect of the rs11053646 genotype of the oxidized low-density lipoprotein receptor 1 (OLR1) gene on coronary artery disease (CAD) risk in a cohort of FH patients...
October 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28926730/impact-of-evolocumab-treatment-on-low-density-lipoprotein-cholesterol-levels-in-heterozygous-familial-hypercholesterolemic-patients-withdrawing-from-regular-apheresis
#15
Masa-Aki Kawashiri, Atsushi Nohara, Toshinori Higashikata, Hayato Tada, Chiaki Nakanishi, Hirofumi Okada, Tetsuo Konno, Kenji Sakata, Kenshi Hayashi, Akihiro Inazu, Hiroshi Mabuchi, Masakazu Yamagishi
BACKGROUND AND AIMS: Low-density lipoprotein (LDL) apheresis has been used to treat refractory hyperlipidemia such as familial hypercholesterolemia (FH). Evolocumab, a proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor used in clinical settings, can reduce LDL cholesterol (LDL-C) levels by >70%. Therefore, this study aimed to assess the impact of evolocumab on withdrawal from regular LDL apheresis in patients with heterozygous FH (HeFH). METHODS: Eleven patients with HeFH undergoing biweekly LDL apheresis were enrolled and were subsequently switched to a biweekly subcutaneous injection of 140 mg of evolocumab...
September 9, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28919772/anti-pcsk9-antibodies-for-the-treatment-of-heterozygous-familial-hypercholesterolemia-patient-selection-and-perspectives
#16
REVIEW
Alberico Luigi Catapano, Angela Pirillo, Giuseppe Danilo Norata
Heterozygous familial hypercholesterolemia (FH) is a genetic disorder characterized by high low-density lipoprotein cholesterol levels from birth, which exposes the arteries to high levels of atherogenic lipoproteins lifelong and results in a significantly increased risk of premature cardiovascular events. The diagnosis of FH, followed by an appropriate and early treatment is critical to reduce the cardiovascular burden in this population. Phase I-III clinical trials showed the benefit of proprotein convertase subtilisin kexin 9 inhibitors, both alirocumab and evolocumab, in these patients with an average low-density lipoprotein cholesterol reduction ranging from -40% to -60%...
2017: Vascular Health and Risk Management
https://www.readbyqxmd.com/read/28916377/clinical-and-molecular-characterization-of-two-chinese-patients-with-type-2-congenital-generalized-lipodystrophy
#17
Ruimin Chen, Xin Yuan, Jian Wang, Ying Zhang
BACKGROUND: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. METHODS: Medical history, clinical manifestations, physical examination, laboratory data, and ultrasonography findings were analyzed for the two patients with CGL2...
December 30, 2017: Gene
https://www.readbyqxmd.com/read/28886926/2017-focused-update-of-the-2016%C3%A2-acc%C3%A2-expert-consensus-decision-pathway-on-the-role-of-non-statin-therapies-for-ldl-cholesterol-lowering-in%C3%A2-the-management-of-atherosclerotic-cardiovascular-disease-risk-a-report-of-the-american-college-of-cardiology-task-force
#18
Donald M Lloyd-Jones, Pamela B Morris, Christie M Ballantyne, Kim K Birtcher, David D Daly, Sondra M DePalma, Margo B Minissian, Carl E Orringer, Sidney C Smith
In 2016, the American College of Cardiology published the first expert consensus decision pathway (ECDP) on the role of non-statin therapies for low-density lipoprotein (LDL)-cholesterol lowering in the management of atherosclerotic cardiovascular disease (ASCVD) risk. Since the publication of that document, additional evidence and perspectives have emerged from randomized clinical trials and other sources, particularly considering the longer-term efficacy and safety of proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors in secondary prevention of ASCVD...
October 3, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28884604/novel-treatment-options-for-the-management-of-heterozygous-familial-hypercholesterolemia
#19
Georgios Polychronopoulos, Konstantinos Tziomalos
Even though statins represent the mainstay of treatment of heterozygous familial hypercholesterolemia (FH), their low-density lipoprotein cholesterol (LDL-C) lowering efficacy is finite and most patients with FH will not achieve LDL-C targets with statin monotherapy. Addition of ezetimibe with or without bile acid sequestrants will also not lead to treatment goals in many of these patients, particularly in those with established cardiovascular disease. In this selected subgroup of the FH population, proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors provide substantial reductions in LDL-C levels, reduce cardiovascular morbidity and appear to be safe...
September 14, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28826564/familial-hypercholesterolemia-in-a-european-mediterranean-population-prevalence-and-clinical-data-from-2-5-million-primary-care-patients
#20
Alberto Zamora, Luís Masana, Marc Comas-Cufí, Àlex Vila, Núria Plana, Maria García-Gil, Lia Alves-Cabratosa, Jaume Marrugat, Irene Roman, Rafel Ramos
BACKGROUND: Familial hypercholesterolemia (FH), the most frequent hereditary cause of premature coronary heart disease (CHD), is underdiagnosed and insufficiently treated. OBJECTIVES: The objectives of the study were to estimate the prevalence of the FH phenotype (FH-P) and to describe its clinical characteristics in a Mediterranean population. METHODS: Data were obtained from the Catalan primary care system's clinical records database (Catalan acronym: SIDIAP)...
July 2017: Journal of Clinical Lipidology
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