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Familial hypercholesterolemia

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https://www.readbyqxmd.com/read/28437620/american-association-of-clinical-endocrinologists-and-american-college-of-endocrinology-guidelines-for-management-of-dyslipidemia-and-prevention-of-cardiovascular-disease
#1
Paul S Jellinger, Yehuda Handelsman, Paul D Rosenblit, Zachary T Bloomgarden, Vivian A Fonseca, Alan J Garber, George Grunberger, Chris K Guerin, David S H Bell, Jeffrey I Mechanick, Rachel Pessah-Pollack, Kathleen Wyne, Donald Smith, Eliot A Brinton, Sergio Fazio, Michael Davidson
OBJECTIVE: The development of these guidelines is mandated by the American Association of Clinical Endocrinologists (AACE) Board of Directors and American College of Endocrinology (ACE) Board of Trustees and adheres with published AACE protocols for the standardized production of clinical practice guidelines (CPGs). METHODS: Recommendations are based on diligent reviews of the clinical evidence with transparent incorporation of subjective factors, according to established AACE/ACE guidelines for guidelines protocols...
April 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28434814/novel-protein-biomarkers-associated-with-coronary-artery-disease-in-statin-treated-patients-with-familial-hypercholesterolemia
#2
Sven Bos, Michael Phillips, Gerald F Watts, Adrie J M Verhoeven, Eric J G Sijbrands, Natalie C Ward
BACKGROUND: Familial hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipid metabolism. The incidence of coronary artery disease (CAD) varies among both treated and untreated FH patients. OBJECTIVE: The aim of the study was to utilize proteomics to identify novel protein biomarkers that differentiate genetically confirmed heterozygous patients with FH at high CAD risk from those at low CAD risk. METHODS: Sixty genetically confirmed FH patients were recruited and stratified into (1) asymptomatic FH with low atherosclerotic burden (FH, n = 20); (2) asymptomatic FH with high atherosclerotic burden (FH + Ca, n = 20); and (3) FH with previously confirmed symptomatic CAD (FH + CAD, n = 20)...
April 4, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28432645/efficacy-of-lomitapide-in-the-treatment-of-familial-homozygous-hypercholesterolemia-results-of-a-real-world-clinical-experience-in-italy
#3
Laura D'Erasmo, Angelo Baldassare Cefalù, Davide Noto, Antonina Giammanco, Maurizio Averna, Paolo Pintus, Paolo Medde, Giovanni Battista Vigna, Cesare Sirtori, Laura Calabresi, Chiara Pavanello, Marco Bucci, Carlo Sabbà, Patrizia Suppressa, Francesco Natale, Paolo Calabrò, Tiziana Sampietro, Federico Bigazzi, Francesco Sbrana, Katia Bonomo, Fulvio Sileo, Marcello Arca
INTRODUCTION: Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lomitapide in HoFH patients followed with the usual clinical care. METHODS: Clinical and biochemical data were retrospectively collected in 15 HoFH patients (10 with mutations in the LDLR gene and 5 in the LDLRAP1 gene) treated for at least 6 months with lomitapide in addition to lipid-lowering therapies (LLT) in different Lipid Clinics across Italy...
April 21, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28429694/the-rationale-and-design-of-the-national-familial-hypercholesterolemia-registries-in-turkey-a-hit1-and-a-hit2-studies
#4
Meral Kayıkçıoğlu, Lale Tokgözoğlu
OBJECTIVE: Familial hypercholesterolemia (FH) is a genetic disease characterized by extremely high levels of cholesterol, leading to premature atherosclerosis. Although many countries have already addressed the burden of FH by means of national registries, Turkey has no national FH registry or national screening program to detect FH. Creation of a series of FH registries is planned as part of Turkish FH Initiative endorsed by the Turkish Society of Cardiology to meet this need. This article provides detailed information on the rationale and design of the first 2 FH registries (A-HIT1 and A-HIT2)...
April 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28429242/genetics-of-dyslipidemia-and-ischemic-heart-disease
#5
REVIEW
Kavita Sharma, Ragavendra R Baliga
PURPOSE OF REVIEW: Genetic dyslipidemias contribute to the prevalence of ischemic heart disease. The field of genetic dyslipidemias and their influence on atherosclerotic heart disease is rapidly developing and accumulating increasing evidence. The purpose of this review is to describe the current state of knowledge in regard to inherited atherogenic dyslipidemias. The disorders of familial hypercholesterolemia (FH) and elevated lipoprotein(a) will be detailed. Genetic technology has made rapid advancements, leading to new discoveries in inherited atherogenic dyslipidemias, which will be explored in this review, as well as a description of possible future developments...
May 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28428224/familial-hypercholesterolemia-and-type-2-diabetes-in-the-old-order-amish
#6
Huichun Xu, Kathleen A Ryan, Thomas J Jaworek, Lorraine Southam, Jeffrey G Reid, John D Overton, Aris Baras, Marja K Puurunen, Eleftheria Zeggini, Simeon I Taylor, Alan R Shuldiner, Braxton D Mitchell
Alleles associated with lower levels of low density lipoprotein cholesterol (LDL-C) have recently been associated with an increased risk of type 2 diabetes (T2D), highlighting the complex relationship between LDL-C and diabetes. This observation begs the question whether LDL-C-raising alleles are associated with a decreased risk of T2D. This issue was recently addressed in a large familial hypercholesterolemia (FH) screening study, which reported a lower prevalence of self-reported diabetes in FH subjects than age-matched relatives without FH...
April 20, 2017: Diabetes
https://www.readbyqxmd.com/read/28424622/pravastatin-chronic-treatment-sensitizes-hypercholesterolemic-mice-muscle-to-mitochondrial-permeability-transition-protection-by-creatine-or-coenzyme-q10
#7
Estela N B Busanello, Ana C Marques, Noelia Lander, Diogo N de Oliveira, Rodrigo R Catharino, Helena C F Oliveira, Anibal E Vercesi
Statins are efficient cholesterol-lowering medicines utilized worldwide. However, 10% of patients suffer from adverse effects specially related to skeletal muscle function. Pro- or anti-oxidant effects of statins have been reported. Here we hypothesized that statins induce muscle mitochondrial oxidative stress leading to mitochondrial permeability transition (MPT) which may explain statin muscle toxicity. Thus, our aims were to investigate the effects of statin chronic treatment on muscle mitochondrial respiration rates, MPT and redox state indicators in the context of hypercholesterolemia...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28420489/mast-cells-emerge-as-mediators-of-atherosclerosis-special-emphasis-on-il-37-inhibition
#8
REVIEW
Pio Conti, Gianfranco Lessiani, Spyridon K Kritas, Gianpaolo Ronconi, Aessandro Caraffa, Theoharis C Theoharides
In atherosclerosis lipoproteins stimulate the innate immune response, leading to the release of inflammatory cytokines and chemokines. Hypercholesterolemia may activate the synthesis and release of inflammatory cytokines such as IL-1, which induces TNF release in mast cells (MCs). IL-1 and IL-1 family members orchestrate a broadening list of inflammatory diseases, including atherosclerosis. MCs are implicated in the pathophysiology of several diseases including allergy and inflammation. Activated MCs, located perivascularly, contribute to inflammation in atherosclerosis by producing inflammatory cytokines...
April 12, 2017: Tissue & Cell
https://www.readbyqxmd.com/read/28420050/carotid-intima-media-thickness-and-arterial-stiffness-in-pediatric-systemic-lupus-erythematosus
#9
N Su-Angka, A Khositseth, S Vilaiyuk, K Tangnararatchakit, W Prangwatanagul
Objectives The carotid intima-media thickness (CIMT) and carotid arterial stiffness index (CASI) act as the surrogate markers of atherosclerosis. We aim to assess CIMT and CASI in pediatric systemic lupus erythematosus (SLE). Methods Patients ≤ 20 years old fulfilling diagnostic criteria for SLE were enrolled. Patients with active smoking, coronary heart disease, cerebrovascular disease, arterial thrombosis, family history of hypercholesterolemia, chronic liver disease, or other chronic severe diseases were excluded...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28412198/potential-role-of-lycopene-in-targeting-proprotein-convertase-subtilisin-kexin-type-9-to-combat-hypercholesterolemia
#10
Sahir Sultan Alvi, Irfan A Ansari, Imran Khan, Johar Iqbal, M Salman Khan
Proprotein convertase subtilisin/kexin type 9 (PCSK-9) is a serine protease of the proprotien convertase (PC) family that has profound effects on plasma low density lipoprotein cholesterol (LDL-C) levels, the major risk factor for coronary heart disease (CHD), through its ability to mediate LDL receptor (LDL-R) protein degradation and reduced recycling to the surface of hepatocytes. Thus, the current study was premeditated not only to evaluate the role of lycopene in targeting the inhibition of PCSK-9 via modulation of genes involved in cholesterol homeostasis in HFD rats but also to examine a correlation between HFD induced inflammatory cascades and subsequent regulation of PCSK-9 expression...
April 12, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28410864/-prevalence-of-cardiovascular-risk-factors-in-urban-and-rural-communities-in-the-wilaya-of-tlemcen-algeria-a-comparative-study
#11
L Boukli Hacène, M-A Khelil, D Chabane Sari, K Meguenni, A Meziane Tani
BACKGROUND: In Algeria, few studies have been conducted to determine the prevalence of genetic and environmental risk factors of cardiovascular diseases as a function of residence. The objective of this study was therefore to determine the prevalence of cardiovascular risk factors according to sex and age in urban and rural communities in the Wilaya of Tlemcen (Algeria). MATERIAL AND METHODS: A population survey was conducted on a representative sample of 864 individuals aged 20years and over, among inhabitants in urban and rural communes in the Wilaya of Tlemcen...
April 11, 2017: Revue D'épidémiologie et de Santé Publique
https://www.readbyqxmd.com/read/28395986/a-decade-of-progress-on-the-genetic-basis-of-coronary-artery-disease-practical-insights-for-the-internist
#12
REVIEW
Domenico Girelli, Chiara Piubelli, Nicola Martinelli, Roberto Corrocher, Oliviero Olivieri
Clinicians are well aware of the importance of a positive family history for coronary artery disease (CAD). Nonetheless, elucidation of the genetic basis of CAD has long proven difficult. The scenario changed in the last decade through the application of modern genomic technologies, like genome-wide association studies (GWAS) and next generation sequencing (NGS). GWAS have discovered over 60 common variants highly associated with CAD. For predictive purposes, such variants have been used to build up Genetic Risk Scores (GRSs), but their incorporation into classical prediction models does not appear substantially outperform the simple addition of family history...
April 7, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28391914/the-montreal-fh-score-a-new-score-to-predict-cardiovascular-events-in-familial-hypercholesterolemia
#13
Martine Paquette, Robert Dufour, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is characterized by extremely high low-density lipoprotein cholesterol (LDL-C) concentration and premature cardiovascular disease (CVD). Not all FH patients present the same CVD risk, and currently, there is no clinical tool to assess this risk. OBJECTIVE: The objectives of this cross-sectional cohort study are twofold: to identify the strongest predictors of CVD in patients with FH and to develop a new score to identify FH patients at very high CVD risk...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28391901/low-density-lipoprotein-receptor-negative-compound-heterozygous-familial-hypercholesterolemia-two-lifetime-journeys-of-lipid-lowering-therapy
#14
Reyhana Yahya, Monique T Mulder, Eric J G Sijbrands, Monique Williams, Jeanine E Roeters van Lennep
We present the case history of 2 patients with low-density lipoprotein receptor-negative compound heterozygous familial hypercholesterolemia who did not receive lipoprotein apheresis. We describe the subsequent effect of all lipid-lowering medications during their life course including resins, statins, ezetimibe, nicotinic acid/laropiprant, mipomersen, and lomitapide. These cases tell the story of siblings affected with this rare disease, who are free of symptoms but still are at a very high cardiovascular disease risk, and their treatment from childhood...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28391899/heterozygous-familial-hypercholesterolemia-presenting-as-chylomicronemia-syndrome
#15
Robert S Rosenson, Sherwin D Najera, Robert A Hegele
Heterozygous familial hypercholesterolemia (HeFH) is characterized by a twofold elevation in low-density lipoprotein cholesterol. Severe elevations in triglycerides are an uncommon manifestation. In this case report, we discuss an atypical presentation of the chylomicronemia syndrome in a patient with HeFH. Genetic analyses of the low-density lipoprotein receptor mutation and single nucleotide polymorphisms that elevate triglycerides provide confirmation for this atypical presentation of HeFH.
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28391898/severe-decrease-in-high-density-lipoprotein-cholesterol-with-the-combination-of-fibrates-and-ezetimibe-a-case-series
#16
Estelle Nobecourt, Bertrand Cariou, Gilles Lambert, Michel Krempf
A sudden and severe drug-induced decrease in plasma high-density lipoprotein cholesterol (HDL-C) is a rare condition. We report 2 patients with familial hypercholesterolemia treated with statins and fibrates and 2 others with mixed dyslipidemia treated with fibrates, who presented with a sudden and severe decrease in HDL-C (from -44% to -95%, compared with baseline). Three of the patients were treated with fibrates and had a sudden decrease in HDL-C after the adjunction of ezetimibe. HDL-C returned to normal levels after discontinuation of the offending therapies...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28391894/cost-effectiveness-of-a-cascade-screening-program-for-the-early-detection-of-familial-hypercholesterolemia
#17
Pablo Lázaro, Leopoldo Pérez de Isla, Gerald F Watts, Rodrigo Alonso, Richard Norman, Ovidio Muñiz, Francisco Fuentes, Nelva Mata, José López-Miranda, José Ramón González-Juanatey, José Luis Díaz-Díaz, Antonio Javier Blasco, Pedro Mata
BACKGROUND: Although familial hypercholesterolemia (FH) confers a high risk of coronary artery disease, most patients are undiagnosed, and little is known about the efficiency of genetic cascade screening programs at national level. OBJECTIVE: The aim of the study was to estimate the cost-effectiveness of a national genetic cascade screening program in Spain. METHODS: An economic evaluation was performed using a decision tree analysis. The choice in the decision tree was between implementation of the national program for FH (NPFH) or keeping the usual clinical care...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28391886/efficacy-and-safety-of-the-proprotein-convertase-subtilisin-kexin-type-9-monoclonal-antibody-alirocumab-vs-placebo-in-patients-with-heterozygous-familial-hypercholesterolemia
#18
John J P Kastelein, G Kees Hovingh, Gisle Langslet, Marie T Baccara-Dinet, Daniel A Gipe, Umesh Chaudhari, Jian Zhao, Pascal Minini, Michel Farnier
BACKGROUND: Patients with heterozygous familial hypercholesterolemia (HeFH) are characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels. Long-term effects of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibition have not been thoroughly investigated in these patients. OBJECTIVE: We evaluated efficacy and safety of alirocumab, a PCSK9 inhibitor, vs placebo in patients with HeFH. METHODS: In total, 1257 patients with HeFH on maximally tolerated statin ± other lipid-lowering therapies from four 78-week ODYSSEY trials were analyzed...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28391882/clinical-and-molecular-aspects-of-familial-hypercholesterolemia-in-ibero-american-countries
#19
Raul D Santos, Mafalda Bourbon, Rodrigo Alonso, Ada Cuevas, Norma Alexandra Vasques-Cardenas, Alexandre C Pereira, Alonso Merchan, Ana Catarina Alves, Ana Margarida Medeiros, Cinthia E Jannes, Jose E Krieger, Laura Schreier, Leopoldo Perez de Isla, Maria Teresa Magaña-Torres, Mario Stoll, Nelva Mata, Nicolas Dell Oca, Pablo Corral, Sylvia Asenjo, Virginia G Bañares, Ximena Reyes, Pedro Mata
BACKGROUND: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region. OBJECTIVE: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay. METHODS: Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28391881/transitioning-from-pediatric-to-adult-health-care-with-familial-hypercholesterolemia-listening-to-young-adult-and-parent-voices
#20
Samantha K Sliwinski, Holly Gooding, Sarah de Ferranti, Thomas I Mackie, Supriya Shah, Tully Saunders, Laurel K Leslie
BACKGROUND: Young adults with familial hypercholesterolemia (FH) are at a critical period for establishing behaviors to promote future cardiovascular health. OBJECTIVE: To examine challenges transitioning to adult care for young adults with FH and parents of FH-affected young adults in the context of 2 developmental tasks, transitioning from childhood to early adulthood and assuming responsibility for self-management of a chronic disorder. METHODS: Semistructured, qualitative interviews were conducted with 12 young adults with FH and 12 parents of affected young adults from a pediatric subspecialty preventive cardiology program in a northeastern academic medical center...
January 2017: Journal of Clinical Lipidology
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