Read by QxMD icon Read

Familial combined hyperlipidemia

Charlotte Koopal, A David Marais, Jan Westerink, Frank L J Visseren
Familial dysbetalipoproteinemia (FD) is a genetic disorder of lipoprotein metabolism associated with an increased risk for premature cardiovascular disease. In about 10% of the cases, FD is caused by autosomal dominant mutations in the apolipoprotein E gene (APOE). This review article provides a pathophysiological framework for autosomal dominant FD (ADFD) and discusses diagnostic challenges and therapeutic options. The clinical presentation and diagnostic work-up of ADFD are illustrated by two cases: a male with premature coronary artery disease and a p...
January 2017: Journal of Clinical Lipidology
Lu Yihua, Jiang Yun, Zhao Dongshen
The purpose was to determine the differences between premenopausal and postmenopausal coronary artery disease (CAD) risk factors, clinical manifestation, cardiovascular features, rates of recurrence, and influencing factors.Premenopausal (n = 57) and postmenopausal (n = 178) CAD women hospitalized during the same period were enrolled. All patients were followed-up, and the combined recurrence of major adverse cardiovascular events was recorded as the clinical outcome. Differences were compared between the 2 groups...
April 6, 2017: International Heart Journal
Yi-Heng Li, Kwo-Chang Ueng, Jiann-Shing Jeng, Min-Ji Charng, Tsung-Hsien Lin, Kuo-Liong Chien, Chih-Yuan Wang, Ting-Hsing Chao, Ping-Yen Liu, Cheng-Huang Su, Shih-Chieh Chien, Chia-Wei Liou, Sung-Chun Tang, Chun-Chuan Lee, Tse-Ya Yu, Jaw-Wen Chen, Chau-Chung Wu, Hung-I Yeh
In Taiwan, the prevalence of hyperlipidemia increased due to lifestyle and dietary habit changes. Low density lipoprotein cholesterol (LDL-C) and non-high density lipoprotein cholesterol (non-HDL-C) are all significant predicting factors of coronary artery disease in Taiwan. We recognized that lipid control is especially important in patients with existed atherosclerotic cardiovascular diseases (ASCVD), including coronary artery disease (CAD), ischemic stroke and peripheral arterial disease (PAD). Because the risk of ASCVD is high in patients with diabetes mellitus (DM), chronic kidney disease (CKD) and familial hypercholesterolemia (FH), lipid control is also necessary in these patients...
February 24, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
Ana M Bea, Fernando Civeira, Estíbaliz Jarauta, Itziar Lamiquiz-Moneo, Sofía Pérez-Calahorra, Victoria Marco-Benedí, Ana Cenarro, Rocío Mateo-Gallego
INTRODUCTION AND OBJECTIVES: The equations used in the general population to calculate cardiovascular risk are not useful in genetic hypercholesterolemia (GH). Carotid plaque detection has proved useful in cardiovascular prediction and risk reclassification but there have been no studies of its usefulness in GH. The aim of this study was to determine the association between the presence of carotid artery plaque and the occurrence of cardiovascular events in patients with GH. METHODS: This study included 1778 persons with GH...
February 16, 2017: Revista Española de Cardiología
Charlotte Koopal, A David Marais, Frank L J Visseren
PURPOSE OF REVIEW: To review pathophysiological, epidemiological and clinical aspects of familial dysbetalipoproteinemia; a model disease for remnant metabolism and remnant-associated cardiovascular risk. RECENT FINDINGS: Familial dysbetalipoproteinemia is characterized by remnant accumulation caused by impaired remnant clearance, and premature cardiovascular disease. Most familial dysbetalipoproteinemia patients are homozygous for apolipoprotein ε2, which is associated with decreased binding of apolipoprotein E to the LDL receptor...
April 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
M Topaktas, N E Kafkas, S Sadighazadi, E S Istifli
Bezafibrate (BF) is a peroxisome proliferator-activated receptor (PPAR) agonist used as a lipid-lowering agent to treat both the familial or acquired combined forms of hyperlipidemia. BF is the only available fibrate drug that acts on all PPAR subtypes of α, β, and δ. Although there are studies that indicate a genotoxic potential associated with the use of fibrates, to our knowledge, the genotoxicity of BF in human peripheral blood lymphocytes has not been studied. In the present study, the genotoxic potential of BF was evaluated using chromosome aberration (CA) and micronucleus (MN) assays in peripheral blood lymphocytes of healthy human subjects...
January 17, 2017: Cytotechnology
Benoit J Arsenault, Nicolas Perrot, Patrick Couture
PURPOSE OF REVIEW: Patients with familial hypercholesterolemia, familial combined hyperlipidemia and hyperlipoprotein(a) are at high cardiovascular risk. Increasing evidence suggest that lifestyle-related risk factors such as physical inactivity, and poor diet quality could influence cardiovascular risk in these patients. Our objective is to review the evidence that supports the role of lifestyle-related factors in the prediction of cardiovascular risk in patients with inherited lipid disorders...
December 24, 2016: Current Opinion in Lipidology
Katrina L Ellis, Jing Pang, Dick C Chan, Amanda J Hooper, Damon A Bell, John R Burnett, Gerald F Watts
BACKGROUND: A significant proportion of index cases presenting with phenotypic familial hypercholesterolemia (FH) are not found to have a pathogenic mutation and may have other inherited conditions. OBJECTIVES: Familial combined hyperlipidemia (FCHL) and elevated lipoprotein(a) [Lp(a)] may mimic FH, but the frequency and correlates of these disorders among mutation-negative FH patients have yet to be established. METHODS: The frequency of FCHL and elevated Lp(a) was investigated in 206 FH mutation-negative index cases attending a specialist lipid clinic...
November 2016: Journal of Clinical Lipidology
Jayashree D Kulkarni, Puneeta Bhatia, Sanjay A Pai
Blood need not always be red. We report a case of a 3 month old boy whose blood was strawberry pink before centrifugation and white (profusely lipemic) after centrifugation. The differential diagnosis was familial hypercholesterolemia or familial combined hyperlipidemia.
December 2016: Indian Journal of Hematology & Blood Transfusion
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
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"