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Familial hypercholesterolemia

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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
#1
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/28925748/the-effect-of-lomitapide-on-cardiovascular-outcome-measures-in-homozygous-familial-hypercholesterolemia-a-modelling-analysis
#2
Robert Leipold, Frederick Raal, Jack Ishak, Kees Hovingh, Helen Phillips
Background Patients with homozygous familial hypercholesterolemia are at high risk of cardiovascular disease due to high low-density lipoprotein (LDL)-cholesterol levels. Cardiovascular disease outcome studies are impossible to conduct, due to the rarity of homozygous familial hypercholesterolemia. We modelled the potential efficacy of lomitapide, a microsomal transfer protein inhibitor, on major adverse cardiovascular events (MACEs) and survival. Design We calculated the effect on cardiovascular outcomes of a 38% plasma LDL-cholesterol reduction induced by lomitapide...
January 1, 2017: European Journal of Preventive Cardiology
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/28919240/single-nucleotide-variants-associated-with-polygenic-hypercholesterolemia-in-families-diagnosed-clinically-with-familial-hypercholesterolemia
#4
Itziar Lamiquiz-Moneo, María Rosario Pérez-Ruiz, Estíbaliz Jarauta, María Teresa Tejedor, Ana M Bea, Rocío Mateo-Gallego, Sofía Pérez-Calahorra, Lucía Baila-Rueda, Victoria Marco-Benedí, Isabel de Castro-Orós, Ana Cenarro, Fernando Civeira
INTRODUCTION AND OBJECTIVES: Approximately 20% to 40% of clinically defined familial hypercholesterolemia cases do not show a causative mutation in candidate genes, and some of them may have a polygenic origin. A cholesterol gene risk score for the diagnosis of polygenic hypercholesterolemia has been demonstrated to be valuable to differentiate polygenic and monogenic hypercholesterolemia. The aim of this study was to determine the contribution to low-density lipoprotein cholesterol (LDL-C) of the single nucleotide variants associated with polygenic hypercholesterolemia in probands with genetic hypercholesterolemia without mutations in candidate genes (nonfamilial hypercholesterolemia genetic hypercholesterolemia) and the genetic score in cascade screening in their family members...
September 14, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28916377/clinical-and-molecular-characterization-of-two-chinese-patients-with-type-2-congenital-generalized-lipodystrophy
#5
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/28902717/new-approaches-to-address-dyslipidemia
#6
Klaus G Parhofer
PURPOSE OF REVIEW: Although lipid-lowering treatment with statins, ezetimibe, and PCSK9 inhibitors is a very successful strategy to prevent cardiovascular events, there is a need for further drug developments. Not all patients respond sufficiently to the available therapy (very high baseline values, intolerance). Furthermore, patients may be characterized by dyslipidemias not accessible to available drugs such as patients with homozygous familial hypercholesterolemia, chylomicronemia syndrome, or elevated lipoprotein(a)...
September 11, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28895539/frequency-and-clinical-and-molecular-aspects-of-familial-hypercholesterolemia-in-an-endocrinology-unit-in-ciudad-bol%C3%A3-var-venezuela
#7
Marcos M Lima-Martínez, Mariela Paoli, Alejandra Vázquez-Cárdenas, María Teresa Magaña-Torres, Ornella Guevara, María Carolina Muñoz, Alberto Parrilla-Alvarez, Yuliangelys Márquez, Ana Medeiros, Mafalda Bourbon
OBJECTIVE: To assess the frequency and the clinical, biochemical, and molecular aspects of familial hypercholesterolemia (FH) in subjects attending an endocrinology unit. METHODS: An observational, descriptive study evaluating 3,140 subjects attending the endocrinology unit of Centro Médico Orinoco in Ciudad Bolívar, Venezuela, from 7 January 2013 to 9 December 2016. The index cases were selected using the Dutch Lipid Clinic Network criteria. Plasma lipid levels were measured, and a molecular analysis was performed by DNA sequencing of the LDLR and APOB genes...
October 2017: Endocrinología, diabetes y nutrición
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
#8
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
#9
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/28877254/prevalence-awareness-treatment-and-control-of-diabetes-and-impaired-fasting-glucose-in-the-southern-cone-of-latin-america
#10
Vilma Irazola, Adolfo Rubinstein, Lydia Bazzano, Matias Calandrelli, Chen Chung-Shiuan, Natalia Elorriaga, Laura Gutierrez, Fernando Lanas, Jose A Manfredi, Nora Mores, Hector Olivera, Rosana Poggio, Jacqueline Ponzo, Pamela Seron, Jiang He
AIMS: To determine the prevalence, treatment and control of diabetes mellitus (DM) and impaired fasting glucose (IFG) as well as associated factors in the adult population of four cities of the Southern Cone of Latin America (SCLA). METHODS: This is a cross-sectional population-based study that included 7407 adults between 35 and 74 years old in four cities of the SCLA: Temuco (Chile), Marcos Paz and Bariloche (Argentina), and Pando-Barros Blancos (Uruguay). DM was defined as fasting plasma glucose ≥126 mg/dL or self-reported history of diabetes...
2017: PloS One
https://www.readbyqxmd.com/read/28874442/use-of-next-generation-sequencing-to-detect-ldlr-gene-copy-number-variation-in-familial-hypercholesterolemia
#11
Michael A Iacocca, Jian Wang, Jacqueline S Dron, John F Robinson, Adam D McIntyre, Henian Cao, Robert A Hegele
Familial hypercholesterolemia (FH) is a heritable condition of severely elevated LDL cholesterol, caused predominantly by autosomal codominant mutations in the LDL receptor gene (LDLR). In providing a molecular diagnosis for FH, the current procedure often includes targeted next-generation sequencing (NGS) panels for the detection of small-scale DNA variants, followed by multiplex ligation-dependent probe amplification (MLPA) in LDLR for the detection of whole-exon copy number variants (CNVs). The latter is essential as ~10% of FH cases are attributed to CNVs in LDLR; accounting for them decreases false negative findings...
September 5, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28873201/mutational-screening-in-the-ldlr-gene-among-patients-presenting-familial-hypercholesterolemia-in-the-southeast-of-brazil
#12
G A Molfetta, D L Zanette, J E Santos, W A Silva
Familial hypercholesterolemia (FH) is a dominant, autosomal disease characterized by high LDL levels in blood plasma, and is caused by a defect in the gene encoding the LDL receptor (LDLR). The clinical diagnosis is based on personal and familial history, physical examination findings, and measures of high LDL cholesterol concentrations. LDLR is a cell-surface glycoprotein that controls the level of blood plasma cholesterol and triglyceride by LDLR-mediated endocytosis. Here we sequenced the entire LDLR gene-coding region to screen for mutations in 32 patients diagnosed with FH, and we have found 20 mutations including synonymous, missense, and intronic mutations...
August 31, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28868092/the-spectrum-of-familial-hypercholesterolemia-fh-in-saudi-arabia-prime-time-for-patient-fh-registry
#13
REVIEW
Faisal Alallaf, Fatima Amanullah H Nazar, Majed Alnefaie, Adel Almaymuni, Omran Mohammed Rashidi, Khalid Alhabib, Fahad Alnouri, Mohamed-Nabil Alama, Mohammad Athar, Zuhier Awan
BACKGROUND: Familial hypercholesterolemia (FH) is a life-threatening inherited condition. Untreated patients have the risk to develop raised plasma levels of cholesterol, atherosclerosis and cardiovascular disease (CVD). If diagnosed and treated early in life, the pathological consequences due to atherosclerosis could be avoided and patients with FH can have an anticipated normal life. Mounting evidence suggests that FH is underdiagnosed and undertreated in all populations. The underlying molecular basis of FH is the presence of mutations in one or more genes in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin 9 (PCSK9)...
2017: Open Cardiovascular Medicine Journal
https://www.readbyqxmd.com/read/28857860/hyperlipidemia-and-cardiovascular-disease-with-focus-on-familial-hypercholesterolemia
#14
Kirsten B Holven, Stine M Ulven, Martin P Bogsrud
No abstract text is available yet for this article.
October 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28843503/cyp7a1-is-continuously-increased-with-disrupted-fxr-mediated-feedback-inhibition-in-hypercholesterolemic-tallyho-jng-mice
#15
Eun-Ah Lee, Dong-In Lee, Hee-Yoen Kim, Sung-Hoon Ahn, Hye-Rim Seong, Won Hoon Jung, Ki Young Kim, Sungsub Kim, Sang Dal Rhee
TALLYHO/Jng (TH) mice reveal hypercholesterolemia at an early age before their plasma glucose levels have increased. The increased plasma cholesterol should be related to bile acids (BAs) metabolism, because cholesterol is the precursor of BAs and BAs change cholesterol metabolism in a feedback manner. We analyzed the BAs pool size, BAs composition, and expression levels of several proteins that have key roles in BAs synthesis, excretion, and reabsorption and compared them to those of C57BL/6 (B6) mice to study BAs metabolism in TH mice...
August 24, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28839185/antisense-oligonucleotide-and-thyroid-hormone-conjugates-for-obesity-treatment
#16
Yang Cao, Tomoko Matsubara, Can Zhao, Wei Gao, Linxiu Peng, Jinjun Shan, Zhengxia Liu, Fang Yuan, Lingyi Tang, Peixin Li, Zhibin Guan, Zhuyuan Fang, Xiang Lu, Hu Huang, Qin Yang
Using the principle of antibody-drug conjugates that deliver highly potent cytotoxic agents to cancer cells for cancer therapy, we here report the synthesis of antisense-oligonucleotides (ASO) and thyroid hormone T3 conjugates for obesity treatment. ASOs primarily target fat and liver with poor penetrance to other organs. Pharmacological T3 treatment increases energy expenditure and causes weight loss, but is contraindicated for obesity treatment due to systemic effects on multiple organs. We hypothesize that ASO-T3 conjugates may knock down target genes and enrich T3 action in fat and liver...
August 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28838367/managing-patients-with-homozygous-familial-hypercholesterolemia
#17
EDITORIAL
Samuel S Gidding
No abstract text is available yet for this article.
August 29, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28838366/efficacy-of-rosuvastatin-in-children%C3%A2-with%C3%A2-homozygous-familial-hypercholesterolemia-and-association-with-underlying-genetic-mutations
#18
RANDOMIZED CONTROLLED TRIAL
Evan A Stein, Eldad J Dann, Albert Wiegman, Flemming Skovby, Daniel Gaudet, Etienne Sokal, Min-Ji Charng, Mafauzy Mohamed, Ilse Luirink, Joel S Raichlen, Mattias Sundén, Stefan C Carlsson, Frederick J Raal, John J P Kastelein
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH), a rare genetic disorder, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease. Statin treatment starts at diagnosis, but no statin has been formally evaluated in, or approved for, HoFH children. OBJECTIVES: The authors sought to assess the LDL-C efficacy of rosuvastatin versus placebo in HoFH children, and the relationship with underlying genetic mutations...
August 29, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28831261/real-world-use-of-pcsk-9-inhibitors-by-early-adopters-cardiovascular-risk-factors-statin-co-treatment-and-short-term-adherence-in-routine-clinical-practice
#19
Kathleen A Fairman, Lindsay E Davis, David A Sclar
BACKGROUND: Inconsistency of real-world medication use with labeled indications may affect cost and clinical value of pharmacotherapy. PCSK-9 inhibitors are labeled in the US for use with statins to reduce low-density lipoprotein cholesterol in patients with atherosclerotic cardiovascular disease (ASCVD) or familial hypercholesterolemia (FH). OBJECTIVE: To assess consistency with labeled indications and treatment persistency for early (first 5 post-launch months) adopters of PCSK-9 inhibitor pharmacotherapy...
2017: Therapeutics and Clinical Risk Management
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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