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Heterozygous familial hypercholesterolemia

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https://www.readbyqxmd.com/read/28941610/scavenger-receptor-lox1-genotype-predicts-coronary-artery-disease-in-patients-with-familial-hypercholesterolemia
#1
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
#2
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
#3
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
#4
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...
September 12, 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
#5
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...
August 30, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28884604/novel-treatment-options-for-the-management-of-heterozygous-familial-hypercholesterolemia
#6
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 8, 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
#7
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
https://www.readbyqxmd.com/read/28815569/glucose-dependent-leukocyte-activation-in-familial-hypercholesterolemia
#8
Natasja Koks, Marijke A de Vries, Erwin Birnie, Arash Alipour, Manuel Castro Cabezas
BACKGROUND: Leukocyte activation is an obligatory factor in the development of atherosclerosis. The postprandial situation has been associated to increased leukocyte activation in several disorders, such as type 2 diabetes mellitus and familial combined hyperlipidemia. Our study aim was to evaluate the effect of post-OGTT hyperglycemia on leukocyte activation in patients with familial hypercholesterolemia (FH). MATERIALS AND METHODS: Patients who met the diagnostic criteria for heterozygous FH and healthy volunteers were asked to undergo an oral glucose tolerance test...
August 16, 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28812389/evolocumab-for-the-treatment-of-hypercholesterolemia
#9
Brian Tomlinson, Miao Hu, Yuzhen Zhang, Paul Chan, Zhong-Min Liu
Evolocumab is a fully human monoclonal immunoglobulin G2 directed against human proprotein convertase subtilisin/kexin type 9 (PCSK9). It is administered by subcutaneous injection every 2 weeks or once monthly. Area covered: Herein, the authors discuss the rationale for inhibiting PCSK9 and describe the pharmacodynamics, pharmacokinetics and clinical trials with evolocumab. Evolocumab reduces low density lipoprotein cholesterol (LDL-C) levels by 50 to 60% in most patients with and without background treatment with statins or other lipid lowering agents...
August 16, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28801029/cardiovascular-disease-in-familial-hypercholesterolemia-validation-and-refinement-of-the-montreal-fh-score
#10
Martine Paquette, Diane Brisson, Robert Dufour, Étienne Khoury, Daniel Gaudet, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is a disease characterized by increased low-density lipoprotein cholesterol and premature cardiovascular disease (CVD) but there is marked individuality in the occurrence of CVD events. Recently, the Montreal-FH-SCORE (MFHS) has been shown to stratify CVD frequency in FH subjects, but this score has not yet been validated. OBJECTIVE: The aims of the present study were to conduct an independent external validation of the MFHS in a retrospective cohort of heterozygous FH and to identify additional variables that could significantly improve the prediction of prevalent CVD...
September 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28798072/the-roles-of-apo-a-size-phenotype-and-dominance-pattern-in-pcsk9-inhibition-induced-reduction-in-lp-a-with-alirocumab
#11
Byambaa Enkhmaa, Erdembileg Anuurad, Wei Zhang, Kun Yue, Ching-Shang Li, Lars Berglund
An elevated level of lipoprotein(a) [Lp(a)] is a risk factor for cardiovascular disease. Alirocumab, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9, is reported to reduce Lp(a) levels. The relationship of Lp(a)-reduction with apolipoprotein(a) [apo(a)] size polymorphism, phenotype, and dominance pattern and LDL-C-reduction was evaluated in a pooled analysis of 155 hypercholesterolemic patients (75 with heterozygous familial hypercholesterolemia) from 2 clinical trials. Alirocumab significantly reduced total Lp(a) (pooled median: -21%, p=0...
August 10, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28761763/premature-valvular-heart-disease-in-homozygous-familial-hypercholesterolemia
#12
Akl C Fahed, Kamel Shibbani, Rabih R Andary, Mariam T Arabi, Robert H Habib, Denis D Nguyen, Fady F Haddad, Elie Moubarak, Georges Nemer, Sami T Azar, Fadi F Bitar
Valvular heart disease frequently occurs as a consequence of premature atherosclerosis in individuals with familial hypercholesterolemia (FH). Studies have primarily focused on aortic valve calcification in heterozygous FH, but there is paucity of data on the incidence of valvular disease in homozygous FH. We performed echocardiographic studies in 33 relatively young patients (mean age: 26 years) with homozygous FH (mean LDL of 447 mg/dL, 73% on LDL apheresis) to look for subclinical valvulopathy. Twenty-one patients had evidence of valvulopathy of the aortic or mitral valves, while seven subjects showed notable mitral regurgitation...
2017: Cholesterol
https://www.readbyqxmd.com/read/28756723/novel-pharmacological-treatments-for-children-and-adolescents-with-heterozygous-familial-hypercholesterolemia
#13
Albert Wiegman, Barbara A Hutten
No abstract text is available yet for this article.
August 8, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28740397/eligibility-for-alirocumab-or-evolocumab-treatment-in-1090-hypercholesterolemic-patients-referred-to-a-regional-cholesterol-treatment-center-with-ldl-cholesterol-%C3%A2-70-mg-dl-despite-maximal-tolerated-ldl-cholesterol-lowering-therapy
#14
Vybhav Jetty, Charles J Glueck, Kevin Lee, Naila Goldenberg, Marloe Prince, Ashwin Kumar, Michael Goldenberg, Ishan Anand, Ping Wang
BACKGROUND: Proprotein convertase subtilisin/kexin type 9 inhibitors, Praluent (alirocumab [ALI]) and Repatha (evolocumab [EVO]) have been approved as adjuncts to the standard-of-care maximal-tolerated dose (MTD) of low-density lipoprotein cholesterol (LDLC)-lowering therapy (LLT), statin therapy, in heterozygous (HeFH) (ALI or EVO) or homozygous (EVO) familial hypercholesterolemia, or clinical atherosclerotic cardiovascular disease (CVD) where LDLC lowering is insufficient (both). Since LDLC lowering has been revolutionized by ALI and EVO, specialty pharmaceutical pricing models will be applied to a mass market...
2017: Vascular Health and Risk Management
https://www.readbyqxmd.com/read/28738813/efficacy-and-safety-of-proprotein-convertase-subtilisin-kexin-type-9-pcsk9-inhibitors-alirocumab-and-evolocumab-a-post-commercialization-study
#15
Joshua Choi, Amir M Khan, Michael Jarmin, Naila Goldenberg, Charles J Glueck, Ping Wang
BACKGROUND: Efficacy-safety of proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors, alirocumab (ALI) and evolocumab (EVO), have previously been evaluated through controlled clinical trials with selective patient groups. Post-commercially, in 69 patients with heterozygous familial hypercholesterolemia (HeFH) and/or cardiovascular disease (CVD) with suboptimal LDL cholesterol (LDLC) lowering on maximal tolerated LDLC therapy, we assessed efficacy and safety of ALI and EVO. METHODS: Post-commercially, we started 29 patients on ALI 75 mg, 18 on ALI 150 mg, and 22 on EVO 140 mg every 2 weeks added to a maximally tolerated LDLC-lowering regimen...
July 24, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28725328/heterozygous-familial-hypercholesterolemia-with-apoe-haplotype-a-prospective-harbinger-of-a-catastrophic-cardiovascular-event
#16
Glenmore Lasam, Siddesh Shambhu, Robert Fishberg
We report a very young man with heterozygous familial hypercholesterolemia (FH) with APOE haplotype and a significant cardiac family history who underwent cardiac catheterization for intermittent episodes of exertional dyspnea and was noted to have a severe triple vessel coronary artery disease (CAD). He underwent coronary artery bypass graft (CABG) surgery which was uneventful. He was discharged on antiplatelet, beta blocker, nitrate, and statin. On routine health maintenance evaluation, he had no cardiac complaints and had been tolerating well his activities of daily living...
June 2017: Cardiology Research
https://www.readbyqxmd.com/read/28717233/effect-of-ldl-cholesterol-statins-and-presence-of-mutations-on-the-prevalence-of-type-2-diabetes-in-heterozygous-familial-hypercholesterolemia
#17
Elisenda Climent, Sofía Pérez-Calahorra, Victoria Marco-Benedí, Nuria Plana, Rosa Sánchez, Emilio Ros, Juan F Ascaso, Jose Puzo, Fátima Almagro, Carlos Lahoz, Fernando Civeira, Juan Pedro-Botet
Patients with heterozygous familial hypercholesterolemia (HeFH) have been reported to be less vulnerable to type 2 diabetes mellitus (T2DM), although the mechanism is unknown. The aims of the present study were to assess the effects of low density lipoprotein (LDL) cholesterol concentration and the presence of FH-causing mutations on T2DM prevalence in HeFH. Data were collected from the Dyslipidemia Registry of the Spanish Arteriosclerosis Society. Inclusion criteria were definite or probable HeFH in patients aged ≥18 years...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28696550/two-novel-variants-of-the-abcg5-gene-cause-xanthelasmas-and-macrothrombocytopenia-a-brief-review-of-hematologic-abnormalities-of-sitosterolemia
#18
J M Bastida, R Benito, K Janusz, M Díez-Campelo, J M Hernández-Sánchez, S Marcellini, M Girós, J Rivera, M L Lozano, A Hortal, J M Hernández-Rivas, J R González-Porras
Essentials Diagnosis of sitosterolemia, a rare recessive or syndromic disorder, is usually delayed. Peripheral blood smear is extremely useful for establishing the suspicion of sitosterolemia. High-throughput sequencing technology enables the molecular diagnosis of inherited thrombocytopenias. Accurate characterization of sitosterolemia helps us determine appropriate management. SUMMARY: Background Sitosterolemia (STSL) is a recessive inherited disorder caused by pathogenic variants in the ABCG5 and ABCG8 genes...
July 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28695455/pcsk9-inhibitors-for-treating-dyslipidemia-in-patients-at-different-cardiovascular-risk-a-systematic-review-and-a-meta-analysis
#19
Alessandro Squizzato, Matteo Basilio Suter, Marta Nerone, Robert Patrick Giugliano, Francesco Dentali, Andrea Maria Maresca, Leonardo Campiotti, Anna Maria Grandi, Luigina Guasti
Statin-induced lowering of low-density lipoprotein cholesterol (LDL-C) reduces cardiovascular morbidity and mortality, but many patients do not adequately reduce their LDL-C levels. Monoclonal antibodies targeting PCKS9 are currently in the advanced phase of development. We aimed to investigate the efficacy and safety of PCSK9 inhibitors in patients at different cardiovascular risk in a systematic review. Studies were searched on MEDLINE and EMBASE until January 2016. Differences in the outcomes among groups were expressed as mean differences, or pooled odds ratio (OR) and corresponding 95% confidence interval (CI), which were calculated using a fixed-effects and a random-effects model...
July 10, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28685504/statins-for-children-with-familial-hypercholesterolemia
#20
REVIEW
Alpo Vuorio, Jaana Kuoppala, Petri T Kovanen, Steve E Humphries, Serena Tonstad, Albert Wiegman, Euridiki Drogari, Uma Ramaswami
BACKGROUND: Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosomal dominant disorder meaning heterozygotes, or carriers, are affected. Those who are homozygous have severe disease. The average worldwide prevalence of heterozygous familial hypercholesterolemia is at least 1 in 500, although recent genetic epidemiological data from Denmark and next generation sequencing data suggest the frequency may be closer to 1 in 250. Diagnosis of familial hypercholesterolemia in children is based on elevated total cholesterol and low-density lipoprotein cholesterol levels or DNA-based analysis, or both...
July 7, 2017: Cochrane Database of Systematic Reviews
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