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https://www.readbyqxmd.com/read/29212334/-hyperlipoprotienemias-and-not-only-atherosclerosis-fragments-from-history-and-present
#1
Richard Češka
The examples from the history, as well as the recent view, clearly demonstrate a great change in the perception of hyperlipoprotienemias and dyslipidemias (HLP and DLP) at the end of 20th and at the beginning of 21st century. Our aim is not a complex overview about HLP and DLP. We just want to describe the changing position and importance of these diseases in clinical medicine. We will touch cardiology, angiology, but also diabetology, hepatology and gastroenterology (pancreas). HLP and DLP, which started as a research topic in laboratory became clinically interesting as risk factors of atherosclerosis...
2017: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/29195809/reduced-psychological-distress-in-familial-chylomicronemia-syndrome-after-patient-support-group-intervention
#2
Leah M Wilson, Russell R Cross, P Barton Duell
Familial chylomicronemia syndrome (FCS) is a rare genetic disorder that is associated with severe hypertriglyceridemia and complications that often include recurrent pancreatitis beginning in childhood. Patients with FCS frequently struggle to maintain normality in their lives as a consequence of the necessity to severely restrict their intake of dietary fat coupled with the constant threat of recurrent pancreatitis. Patients typically face a high level of psychological stress and anxiety in association with reduced measures of quality of life...
November 13, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29153744/molecular-and-functional-characterization-of-familial-chylomicronemia-syndrome
#3
Ryota Teramoto, Hayato Tada, Masa-Aki Kawashiri, Atsushi Nohara, Takuya Nakahashi, Tetsuo Konno, Akihiro Inazu, Hiroshi Mabuchi, Masakazu Yamagishi, Kenshi Hayashi
BACKGROUND AND AIMS: Familial chylomicronemia syndrome is a rare autosomal recessive disorder leading to severe hypertriglyceridemia (HTG) due to mutations in lipoprotein lipase (LPL)-associated genes. Few data exist on the clinical features of the disorder or on comprehensive genetic approaches to uncover the causative genes and mutations. METHODS: Eight patients diagnosed with familial hyperchylomicronemia with recessive inheritance were included in this study (two males and six females; median age of onset 23...
November 14, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29124482/apociii-as-a-cardiovascular-risk-factor-and-modulation-by-the-novel-lipid-lowering-agent-volanesorsen
#4
REVIEW
Natalia A Rocha, Cara East, Jun Zhang, Peter A McCullough
PURPOSE OF REVIEW: Apolipoprotein CIII (ApoCIII) is now recognized as a key regulator in severe hypertriglyceridemia, chylomicronemia, and conditions of triglyceride-rich lipoprotein (TRL) remnant excess due to its inhibition of lipoprotein lipase (LPL) and hepatic lipase, leading to decreased hepatic reuptake of TRLs, as well as enhanced synthesis and secretion of VLDL from the liver. ApoCIII gain-of-function mutations are associated with atherosclerosis and coronary heart disease (CHD), and contribute to the development of cardiometabolic syndrome, hypertriglyceridemia, and type 2 diabetes mellitus...
November 9, 2017: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/28956258/treatment-of-dyslipidemia-in-diabetes-recent-advances-and-remaining-questions
#5
REVIEW
Alan Chait, Ira Goldberg
PURPOSE OF REVIEW: This article reviews current knowledge concerning diabetic dyslipidemia and cardiovascular disease (CVD). It reviews strategies to reduce diabetes-associated CVD, including reducing low-density lipoprotein levels, lowering triglycerides, and increasing high-density lipoproteins (HDL). Special considerations, such as the multifactorial chylomicronemia syndrome and partial lipodystrophy, and the role of glucose-lowering strategies in the management of diabetic dyslipidemia are discussed...
September 27, 2017: Current Diabetes Reports
https://www.readbyqxmd.com/read/28951076/incidental-finding-of-severe-hypertriglyceridemia-in-children-role-of-multiple-rare-variants-in-genes-affecting-plasma-triglyceride
#6
Paola Sabrina Buonuomo, Claudio Rabacchi, Marina Macchiaiolo, Chiara Trenti, Tommaso Fasano, Patrizia Tarugi, Andrea Bartuli, Stefano Bertolini, Sebastiano Calandra
BACKGROUND: The incidental finding of severe hypertriglyceridemia (HyperTG) in a child may suggest the diagnosis of familial chylomicronemia syndrome (FCS), a recessive disorder of the intravascular hydrolysis of triglyceride (TG)-rich lipoproteins. FCS may be due to pathogenic variants in lipoprotein lipase (LPL), as well as in other proteins, such as apolipoprotein C-II and apolipoprotein A-V (activators of LPL), GPIHBP1 (the molecular platform required for LPL activity on endothelial surface) and LMF1 (a factor required for intracellular formation of active LPL)...
November 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28902717/new-approaches-to-address-dyslipidemia
#7
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)...
December 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28666713/gpihbp1-autoantibodies-in-a-patient-with-unexplained-chylomicronemia
#8
Xuchen Hu, Geesje M Dallinga-Thie, G Kees Hovingh, Sandy Y Chang, Norma P Sandoval, Tiffany Ly P Dang, Isamu Fukamachi, Kazuya Miyashita, Katsuyuki Nakajima, Masami Murakami, Loren G Fong, Michael Ploug, Stephen G Young, Anne P Beigneux
BACKGROUND: GPIHBP1, a glycolipid-anchored protein of capillary endothelial cells, binds lipoprotein lipase (LPL) in the interstitial spaces and transports it to the capillary lumen. GPIHBP1 deficiency prevents LPL from reaching the capillary lumen, resulting in low intravascular LPL levels, impaired intravascular triglyceride processing, and severe hypertriglyceridemia (chylomicronemia). A recent study showed that some cases of hypertriglyceridemia are caused by autoantibodies against GPIHBP1 ("GPIHBP1 autoantibody syndrome")...
July 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28516251/-severe-hypertriglyceridemia-diagnostics-and-new-treatment-principles
#9
U Kassner, M Dippel, E Steinhagen-Thiessen
Severe hypertriglyceridemia is defined at a plasma triglyceride (TG) concentration of >885 mg/dl and may result - in particular when clinical symptoms appear before the age of 40 - from "large variant" mutations in genes which influence the function of the lipoprotein lipase (LPL). For diagnosis, secondary factors have to be excluded and treated before further genetic tests are considered. Typical symptoms in almost all patients are recurrent, sometimes severe abdominal pain attacks, which can result in acute pancreatitis, the most important, sometimes life-threatening complication...
August 2017: Der Internist
https://www.readbyqxmd.com/read/28391899/heterozygous-familial-hypercholesterolemia-presenting-as-chylomicronemia-syndrome
#10
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/28338353/the-burden-of-familial-chylomicronemia-syndrome-interim-results-from-the-in-focus-study
#11
Michael Davidson, Michael Stevenson, Andrew Hsieh, Zahid Ahmad, Caroline Crowson, Joseph L Witztum
BACKGROUND: Familial Chylomicronemia Syndrome (FCS) is a rare genetic disorder that is caused by a decrease or an absence of lipoprotein lipase activity. FCS is characterized by marked accumulation of chylomicrons and extreme hypertriglyceridemia, which have major effects on both physical and mental health. To date, there have been no systematic efforts to characterize the impact of chylomicronemia on FCS patients' lives. In particular, the impact of FCS on the burden of illness (BoI) and quality of life (QoL) has not been fully described in the literature...
May 2017: Expert Review of Cardiovascular Therapy
https://www.readbyqxmd.com/read/28284702/the-role-of-registries-in-rare-genetic-lipid-disorders-review-and-introduction-of-the-first-global-registry-in-lipoprotein-lipase-deficiency
#12
REVIEW
Elisabeth Steinhagen-Thiessen, Erik Stroes, Handrean Soran, Colin Johnson, Philippe Moulin, Giorgio Iotti, Marco Zibellini, Bas Ossenkoppele, Michaela Dippel, Maurizio R Averna
A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera(®)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan...
August 21, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28107429/deficient-cholesterol-esterification-in-plasma-of-apoc2-knockout-zebrafish-and-familial-chylomicronemia-patients
#13
Chao Liu, Daniel Gaudet, Yury I Miller
Hypertriglyceridemia is an independent risk factor for cardiovascular disease. Apolipoprotein C-II (APOC2) is an obligatory cofactor for lipoprotein lipase (LPL), the major enzyme catalyzing plasma triglyceride hydrolysis. We have created an apoc2 knockout zebrafish model, which mimics the familial chylomicronemia syndrome (FCS) in human patients with a defect in the APOC2 or LPL gene. In this study, we measured plasma levels of free cholesterol (FC) and cholesterol esters (CE) and found that apoc2 mutant zebrafish have a significantly higher FC to CE ratio (FC/CE), when compared to the wild type...
2017: PloS One
https://www.readbyqxmd.com/read/27998715/diagnostic-algorithm-for-familial-chylomicronemia-syndrome
#14
Erik Stroes, Philippe Moulin, Klaus G Parhofer, Vinciane Rebours, J-Matthias Löhr, Maurizio Averna
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare genetic disease that leads to severe hypertriglyceridemia often associated with recurrent episodes of pancreatitis. The recognition and correct diagnosis of the disease is challenging due to its rarity, and to the lack of specificity of signs and symptoms. Lipid experts, endocrinologists, gastroenterologists, pancreatologists, and general practitioners may encounter patients who potentially have FCS. Therefore, cooperation between experts and improved knowledge of FCS is essential in improving the diagnosis...
January 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/27855567/pradigastat-disposition-in-humans-in-vivo-and-in-vitro-investigations
#15
Alana Upthagrove, Jin Chen, Charles D Meyers, Kenneth Kulmatycki, Angela Bretz, Lai Wang, Lana Peng, Safet Palamar, Melissa Lin, Tapan Majumdar, Phi Tran, Heidi J Einolf
1. Pradigastat is a potent and specific diacylglycerol acyltransferase-1 (DGAT1) inhibitor effective in lowering postprandial triglycerides (TG) in healthy human subjects and fasting TG in familial chylomicronemia syndrome (FCS) patients. 2. Here we present the results of human oral absorption, metabolism and excretion (AME), intravenous pharmacokinetic (PK), and in vitro studies which together provide an overall understanding of the disposition of pradigastat in humans. 3. In human in vitro systems, pradigastat is metabolized slowly to a stable acyl glucuronide (M18...
December 2017: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
https://www.readbyqxmd.com/read/27771961/building-a-better-understanding-of-the-burden-of-disease-in-familial-chylomicronemia-syndrome
#16
Zahid Ahmad, Rob Halter, Michael Stevenson
No abstract text is available yet for this article.
January 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/27676196/new-oral-agents-for-treating-dyslipidemia
#17
Steven E Gryn, Robert A Hegele
PURPOSE OF REVIEW: We provide an overview of orally administered lipid-lowering therapies under development. RECENT FINDINGS: Recent data support statins for intermediate risk primary prevention, and ezetimibe for high-risk secondary prevention. Novel agents in development include bempedoic acid and gemcabene, and work continues on one remaining cholesteryl ester transfer protein inhibitor, anacetrapib, to determine whether this class can reduce cardiovascular risk...
December 2016: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/27274009/effect-of-pradigastat-a-diacylglycerol-acyltransferase-1-inhibitor-on-the-qtcf-interval-in-humans
#18
Charles D Meyers, Adele Noe, Atish Salunke, Aishwarya Movva, Kenneth Kulmatycki, Srikanth Neelakantham, Anne Crissey, Tapan Majumdar, Jin Chen
Pradigastat, a novel diacylglycerol acyltransferase 1 inhibitor, has been studied in familial chylomicronemia syndrome. To evaluate the effects of supratherapeutic concentrations of pradigastat on the QTc interval, 2 studies were conducted. The first study assessed the safety, tolerability, and pharmacokinetics of single escalating intravenous doses of pradigastat (10, 30, 100, and 115 mg over 60 minutes) in healthy adults. Single intravenous doses were safe, well tolerated, and at the higher doses resulted in supratherapeutic pradigastat exposure...
November 2016: Clinical Pharmacology in Drug Development
https://www.readbyqxmd.com/read/27206931/editorial-commentary-dietary-management-of-familial-chylomicronemia-syndrome
#19
EDITORIAL
Lauren Williams, Don P Wilson
No abstract text is available yet for this article.
May 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27200950/long-term-costs-and-consequences-of-patients-with-familial-chylomicronemia-syndrome-a-simulation-model-approach
#20
F Lin, S Thomas, F Calado, J Clegg
No abstract text is available yet for this article.
November 2014: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
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