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Familial combined hyperlipidemia

Dirk J Blom, Ricardo Dent, Rita C Castro, Peter P Toth
Proprotein convertase subtilisin/kexin type 9 (PCSK9) increases low-density lipoprotein cholesterol (LDL-C) concentrations through interference with normal physiologic hepatic LDL receptor (LDLR) recycling. Inhibiting PCSK9 results in improved LDLR recycling, increased LDLR availability on hepatocyte cell surfaces, and reduced blood LDL-C levels, making PCSK9 inhibition a novel therapeutic strategy for managing hypercholesterolemia. Monoclonal antibodies directed against PCSK9 have been developed for this purpose...
2016: Vascular Health and Risk Management
Pietari Ripatti, Joel T Rämö, Sanni Söderlund, Ida Surakka, Niina Matikainen, Matti Pirinen, Päivi Pajukanta, Antti-Pekka Sarin, Susan K Service, Pirkka-Pekka Laurila, Christian Ehnholm, Veikko Salomaa, Richard K Wilson, Aarno Palotie, Nelson B Freimer, Marja-Riitta Taskinen, Samuli Ripatti
Familial combined hyperlipidemia (FCH) is a complex and common familial dyslipidemia characterized by elevated total cholesterol and/or triglyceride levels with over five-fold risk of coronary heart disease. The genetic architecture and contribution of rare Mendelian and common variants to FCH susceptibility is unknown. In 53 Finnish FCH families, we genotyped and imputed nine million variants in 715 family members with DNA available. We studied the enrichment of variants previously implicated with monogenic dyslipidemias and/or lipid levels in the general population by comparing allele frequencies between the FCH families and population samples...
May 2016: PLoS Genetics
Sergio Martinez-Hervas, Ana Artero, Juncal Martinez-Ibañez, Mari C Tormos, Herminia Gonzalez-Navarro, Antonia Priego, Jose F Martinez-Valls, Guillermo T Saez, Jose T Real, Rafael Carmena, Juan F Ascaso
BACKGROUND: Thioredoxins (TRX) are major cellular protein disulphide reductases that are critical for redox regulation. Oxidative stress and inflammation play promoting roles in the genesis and progression of atherosclerosis, but until now scarce data are available considering the influence of TRX activity in familial combined hyperlipidaemia (FCH). Since FCH is associated with high risk of cardiovascular disease, the objective of the present study was to assess oxidative stress status in FCH patients, and evaluate the influence of insulin resistance (IR)...
July 2016: European Journal of Clinical Investigation
Nathalie Brun, Carole E Aubert, David Nanchen, Nicolas Rodondi
Familial dyslipidemia, a frequent genetic cause of premature cardiovascular disease, is still underdiagnosed and undertreated. According to recent European studies, the prevalence of familial hypercholesterolemia is higher than previously suspected and reaches 1/200-300 persons, while familial combined hyperlipidemia affects 1-3% of the population. Screening is important, as familial dyslipidemia often leads to cardiovascular event before 60 years of age, and usual scores of risk are not appropriate for these patients...
March 2, 2016: Revue Médicale Suisse
Babak Payami, Mehrian Jafarizade, Seyed Seifollah Beladi Mousavi, Shahab-Aldin Sattari, Forough Nokhostin
INTRODUCTION: According to the non-specific presentation of atherosclerotic renal artery stenosis (ARAS), this disease is usually an under-diagnosed in clinical conditions. OBJECTIVES: The aim of the presence study was to evaluate the prevalence of renal artery stenosis (RAS) and its related risk factors in hypertensive patients undergoing coronary angiography. PATIENTS AND METHODS: In a cross-sectional study, between March 2009 and October 2010, all of hypertensive patients candidate for diagnostic cardiac catheterization, underwent nonselective renal angiography before completion of their coronary angiography procedure...
2016: Journal of Renal Injury Prevention
Marco Gentile, Ilenia Calcaterra, Alfonso Strazzullo, Carmen Pagano, Delia Pacioni, Enza Speranza, Paolo Rubba, Gennaro Marotta
AIM: The aim of this study was to test small dense LDL changes with Armolipid Plus treatment in patients with familial combined hyperlipidemia (FCHL). METHODS: After 4 weeks, 30 patients with FCHL were included in an 8-week, randomized, double-blind study and were taking, in addition to the standard diet, either placebo or Armolipid Plus. RESULTS: The placebo group showed no statistically significant differences in the studied parameters; instead, in the Armolipid Plus group, statistically significant reduction differences were detected in BMI (p = 0...
December 2015: Clinical Lipidology
Pirkka-Pekka Laurila, Jarkko Soronen, Sander Kooijman, Saara Forsström, Mariëtte R Boon, Ida Surakka, Essi Kaiharju, Claudia P Coomans, Sjoerd A A Van Den Berg, Anu Autio, Antti-Pekka Sarin, Johannes Kettunen, Emmi Tikkanen, Tuula Manninen, Jari Metso, Reija Silvennoinen, Krista Merikanto, Maija Ruuth, Julia Perttilä, Anne Mäkelä, Ayaka Isomi, Anita M Tuomainen, Anna Tikka, Usama Abo Ramadan, Ilkka Seppälä, Terho Lehtimäki, Johan Eriksson, Aki Havulinna, Antti Jula, Pekka J Karhunen, Veikko Salomaa, Markus Perola, Christian Ehnholm, Miriam Lee-Rueckert, Miranda Van Eck, Anne Roivainen, Marja-Riitta Taskinen, Leena Peltonen, Eero Mervaala, Anu Jalanko, Esa Hohtola, Vesa M Olkkonen, Samuli Ripatti, Petri T Kovanen, Patrick C N Rensen, Anu Suomalainen, Matti Jauhiainen
USF1 (upstream stimulatory factor 1) is a transcription factor associated with familial combined hyperlipidemia and coronary artery disease in humans. However, whether USF1 is beneficial or detrimental to cardiometabolic health has not been addressed. By inactivating USF1 in mice, we demonstrate protection against diet-induced dyslipidemia, obesity, insulin resistance, hepatic steatosis, and atherosclerosis. The favorable plasma lipid profile, including increased high-density lipoprotein cholesterol and decreased triglycerides, was coupled with increased energy expenditure due to activation of brown adipose tissue (BAT)...
January 27, 2016: Science Translational Medicine
Amanda J Brahm, Robert A Hegele
PURPOSE OF REVIEW: Combined hyperlipidemia (CHL) is a complex phenotype that is commonly encountered clinically and is often associated with the expression of early heart disease. The affixed adjective 'familial' gives the impression that the trait is monogenic, like familial hypercholesterolemia. But despite significant efforts, genetic studies have yielded little evidence of single gene determinants of CHL. RECENT FINDINGS: Sophisticated linkage studies suggest that individual lipid components of the CHL phenotype - such as elevated LDL and triglyceride - each have several determinants that segregate independently in families...
April 2016: Current Opinion in Lipidology
Andreas Petropoulos, Doris Ehringer-Schetitska, Peter Fritsch, Eero Jokinen, Robert Dalla Pozza, Renate Oberhoffer
OBJECTIVE: The burden of cardiac disease in childhood is unknown. It will be a sum of 1% of living births in the general population, suffering from Congenital Heart Disease (CHD) + approximately 2.5% of the general population suffering from bicuspid aortic valve diseases + an unknown higher prevalence of acquired diseases. Cardiomyopathies, arrhythmias - sudden cardiac death (SCD), rheumatic heard disease, hypertension and accelerating atherosclerosis are among the most frequent. Adding on, genetic syndromes including cardiac defects, endocarditis and myocarditis we can address a large pediatric population worldwide, suffering from heart disease...
September 2015: Hellenic Journal of Nuclear Medicine
Neil F Goodman, Rhoda H Cobin, Walter Futterweit, Jennifer S Glueck, Richard S Legro, Enrico Carmina
Polycystic ovary syndrome (PCOS) is recognized as the most common endocrine disorder of reproductive-aged women around the world. This document, produced by the collaboration of the American Association of Clinical Endocrinologists and the Androgen Excess Society aims to highlight the most important clinical issues confronting physicians and their patients with PCOS. It is a summary of current best practices in 2014. Insulin resistance is believed to play an intrinsic role in the pathogenesis of PCOS. The mechanism by which insulin resistance or insulin give rise to oligomenorrhea and hyperandrogenemia, however, is unclear...
December 2015: Endocrine Practice
Thomas F Whayne, Narasimham Parinandi, Nilanjana Maulik
Key thioredoxin (Trx) system components are nicotinamide adenine dinucleotide phosphate (NADPH), Trx reductase (TrxR), and Trx. TrxR catalyzes disulfide reduction in Trx with NADPH as cofactor. Because Trx is an antioxidant, oxidative stress results in an increase in Trx, which has a reduced disulfide component. If Trx is suppressed, oxidative stress in higher. In contrast a decrease in oxidative stress is associated with low Trx levels. Trx is involved in inflammation, apoptosis, embryogenesis, and cardiovascular disease (CVD)...
November 2015: Canadian Journal of Physiology and Pharmacology
Mandana Khalili, Manuel Lombardero, Raymond T Chung, Norah A Terrault, Marc G Ghany, W Ray Kim, Daryl Lau, Mauricio Lisker-Melman, Arun Sanyal, Anna S Lok
UNLABELLED: Diabetes is associated with liver disease progression and increased hepatocellular carcinoma risk, but factors associated with diabetes in patients with chronic hepatitis B virus (HBV) infection in North America are unknown. We aimed to determine factors predictive of diabetes and impaired fasting glucose (IFG) in a large HBV-infected multiethnic cohort. Adults with chronic HBV not receiving antiviral therapy were enrolled from 21 centers in North America. Diabetes was defined by history/medication use or fasting glucose≥126 mg/dL and IFG as fasting glucose 100-125 mg/dL...
November 2015: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Ilenia Minicocci, Cristina Prisco, Anna Montali, Alessia Di Costanzo, Fabrizio Ceci, Giovanni Pigna, Marcello Arca
BACKGROUND: Defective low-density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) alleles have been implicated in familial combined hyperlipidemia (FCHL). However, their contribution might have been influenced by diagnostic criteria. This study was aimed to reassess the frequency of rare and common variants in LDLR and LPL in FCHL individuals classified with stringent criteria. METHODS: LDLR and LPL were resequenced in 208 FHCL and 171 controls. Variants were classified as loss- (LOF) or gain-of-function (GOF) based upon in silico prediction, familial segregation and available functional data...
October 2015: Atherosclerosis
Mikael Ekholm, Thomas Kahan, Gun Jörneskog, Anders Bröijersén, N Håkan Wallén
Impaired fibrinolysis is related to insulin resistance, also a characteristic feature of familial combined hyperlipidemia (FCHL). The renin-angiotensin (Ang) system is upregulated with insulin resistance, and there is crosstalk between Ang II and insulin-signalling pathways. We studied the fibrinolytic effects of a 3-h systemic Ang II infusion in 16 patients with FCHL and 16 controls, and placebo infusion in eight individuals. Baseline plasminogen activator inhibitor-1 (PAI-1) activity, plasmin-antiplasmin complex, insulin resistance and C-reactive protein were higher in patients with FCHL than in controls...
January 2016: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
Amber Stubbs, Christopher Kotfila, Hua Xu, Özlem Uzuner
The second track of the 2014 i2b2/UTHealth natural language processing shared task focused on identifying medical risk factors related to Coronary Artery Disease (CAD) in the narratives of longitudinal medical records of diabetic patients. The risk factors included hypertension, hyperlipidemia, obesity, smoking status, and family history, as well as diabetes and CAD, and indicators that suggest the presence of those diseases. In addition to identifying the risk factors, this track of the 2014 i2b2/UTHealth shared task studied the presence and progression of the risk factors in longitudinal medical records...
December 2015: Journal of Biomedical Informatics
Nazik Elmalaika Husain, Abdallah Tarig Hassan, Wadie M Elmadhoun, Mohamed H Ahmed
INTRODUCTION: The combination of ezetimibe and atorvastatin (Liptruzet - referred to in this article as eze/ator), has recently been approved by the FDA for reducing low-density lipoprotein cholesterol (LDL-c) in patients with primary or mixed hyperlipidemia as in case of homozygous familial hypercholesterolemia. It helps block intestinal absorption of cholesterol and it inhibits the production of cholesterol in the liver. AREAS COVERED: The safety and effectiveness of the eze/ator combination as treatment of hyperlipidemia...
2015: Expert Opinion on Drug Safety
George Karystianis, Azad Dehghan, Aleksandar Kovacevic, John A Keane, Goran Nenadic
Heart disease is the leading cause of death globally and a significant part of the human population lives with it. A number of risk factors have been recognized as contributing to the disease, including obesity, coronary artery disease (CAD), hypertension, hyperlipidemia, diabetes, smoking, and family history of premature CAD. This paper describes and evaluates a methodology to extract mentions of such risk factors from diabetic clinical notes, which was a task of the i2b2/UTHealth 2014 Challenge in Natural Language Processing for Clinical Data...
December 2015: Journal of Biomedical Informatics
Francesca Santilli, Patrizia Blardi, Carlo Scapellato, Monica Bocchia, Gianni Guazzi, Lucia Terzuoli, Antonella Tabucchi, Antonella Silvietti, Benedetta Lucani, Walter Renato Gioffrè, Francesca Scarpini, Francesca Fazio, Giovanni Davì, Luca Puccetti
OBJECTIVE: In patients with familial combined hyperlipidemia (FCHL), without metabolic syndrome (MS), occurrence of non-alcoholic fatty liver disease (NAFLD) is related to a specific pro-inflammatory profile, influenced by genetic traits, involved in oxidative stress and adipokine secretion. Among FCHL or MS patients, hyperactivity of the ligand-receptor for advanced glycation-end-products (RAGE) pathway, as reflected by inadequate protective response by the endogenous secretory (es)RAGE, in concert with genetic predisposition, may identify those with NAFLD even before and regardless of MS...
September 2015: Vascular Pharmacology
Arrigo F G Cicero, Alessandro Colletti, Claudio Borghi
Despite the proven efficacy of statins, they often fail to achieve low-density lipoprotein (LDL) cholesterol goals, especially in high-risk patients. Moreover, a large number of subjects cannot tolerate statins or full doses of these drugs, in particular patients with familial hypercholesterolemia. Thus, there is a need for additional effective LDL cholesterol-reducing agents. Evolocumab (AMG145) is a monoclonal antibody inhibiting proprotein convertase subtilisin/kexin type 9 that binds to the liver LDL receptor and prevents it from normal recycling by targeting it for degradation...
2015: Drug Design, Development and Therapy
Concetta Irace, Cesare Tripolino, Claudio Carallo, Faustina Barbara Scavelli, Elisabetta Della Valle, Claudio Cortese, Agostino Gnasso
OBJECTIVES: The aim of the study was to identify factors associated with progressive beta-cell failure in a cohort of nonselected subjects with type 2 diabetes. METHODS: Two hundred twenty-four medical records were evaluated. Progressive beta-cell failure was defined as the following: glycated hemoglobin is higher than 7.5% despite combined drug therapy and appropriate diet (ie, isocaloric or hypocaloric diet depending on body weight) and absence of any illness causing acute hyperglycemia...
August 2015: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
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