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https://www.readbyqxmd.com/read/28516251/-severe-hypertriglyceridemia-diagnostics-and-new-treatment-principles
#1
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...
May 17, 2017: Der Internist
https://www.readbyqxmd.com/read/28391899/heterozygous-familial-hypercholesterolemia-presenting-as-chylomicronemia-syndrome
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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 12, 2016: 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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27153815/clinical-biochemical-and-molecular-analysis-of-two-infants-with-familial-chylomicronemia-syndrome
#13
Yonghong Zhang, Jing Zhou, Wenxin Zheng, Zhangzhang Lan, Zhiwei Huang, Qingnan Yang, Chengbo Liu, Rui Gao, Yongjun Zhang
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease due mainly to inherited deficiencies in the proteins or enzymes involved in the clearance of triglycerides from circulation. It usually happens in late childhood and adolescence, which can have serious consequences if misdiagnosed or untreated. In the present study, we investigated two Chinese male babies (A and B), 30d and 48d in age, respectively, who have milky plasma. Clinical, biochemical, and radiological assessments were performed, while samples from the patients were referred for molecular diagnosis, including genetic testing and subsequent analysis of related genes...
2016: Lipids in Health and Disease
https://www.readbyqxmd.com/read/26848137/reduction-in-lipoprotein-associated-apoc-iii-levels-following-volanesorsen-therapy-phase-2-randomized-trial-results
#14
RANDOMIZED CONTROLLED TRIAL
Xiaohong Yang, Sang-Rok Lee, Yun-Seok Choi, Veronica J Alexander, Andres Digenio, Qingqing Yang, Yury I Miller, Joseph L Witztum, Sotirios Tsimikas
Elevated apoC-III levels predict increased cardiovascular risk when present on LDL and HDL particles. We developed novel high-throughput chemiluminescent ELISAs that capture apoB, lipoprotein (a) [Lp(a)], and apoA-I in plasma and then detect apoC-III on these individual lipoproteins as apoCIII-apoB, apoCIII-Lp(a), and apoCIII-apoAI complexes, respectively. We assessed the effects on these complexes of placebo or 100-300 mg volanesorsen, a generation 2.0+ antisense drug that targets apoC3 mRNA in patients with hypertriglyceridemia, including familial chylomicronemia syndrome (n = 3), volanesorsen monotherapy (n = 51), and as add-on to fibrate (n = 26), treated for 85 days and followed for 176 days...
April 2016: Journal of Lipid Research
https://www.readbyqxmd.com/read/26780002/novel-therapeutics-in-hypertriglyceridemia
#15
REVIEW
Steven E Gryn, Robert A Hegele
PURPOSE OF REVIEW: We provide an overview of recent advances in the therapy of hypertriglyceridemia, focusing on several new therapies with potential for treating of familial chylomicronemia, other forms of hypertriglyceridemia, and for triglyceride-lowering in patients with other lipid disorders. RECENT FINDINGS: Newer triglyceride-lowering modalities under evaluation include gene therapy for lipoprotein lipase deficiency (alipogene tiparvovec), and antisense oligonucleotides against mRNA for apolipoproteins B (mipomersen) and C3 (volanesorsen, ISIS 304801)...
December 2015: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/26536493/albumin-versus-solvent-detergent-treated-pooled-plasma-as-replacement-fluid-for-long-term-plasma-exchange-therapy-in-a-patient-with-primary-hypertriglyceridemia-and-recurrent-hyperlipidemic-pancreatitis
#16
Danilo Di Bona, Angelo B Cefalù, Elisabetta Scirè, Giacomo M Lima, Claudia Maria Rizzo, Antonina Giammanco, Carlo M Barbagallo, Maurizio R Averna, Sergio Rizzo, Calogero Caruso
BACKGROUND: Chylomicronemia syndrome is a metabolic condition characterized by severe fasting hypertrigliceridemia (≥ 1000 mg/dL) and other clinical features including chronic abdominal pain and recurrent acute pancreatitis. In patients with acute or recurrent pancreatitis, plasma exchange (PEx) is indicated for the treatment of acute disease and prevention of recurrence. The use of plasma instead of albumin as replacement fluid has been suggested for its putative ability to replace the deficient enzyme possibly leading to better clinical improvement...
March 2016: Transfusion
https://www.readbyqxmd.com/read/26337181/severe-hypertriglyceridemia-due-to-a-novel-p-q240h-mutation-in-the-lipoprotein-lipase-gene
#17
Angela Ganan Soto, Adam McIntyre, Sungeeta Agrawal, Shara R Bialo, Robert A Hegele, Charlotte M Boney
BACKGROUND: Lipoprotein Lipase (LPL) deficiency is a rare autosomal recessive disorder with a heterogeneous clinical presentation. Several mutations in the LPL gene have been identified to cause decreased activity of the enzyme. FINDINGS: An 11-week-old, exclusively breastfed male presented with coffee-ground emesis, melena, xanthomas, lipemia retinalis and chylomicronemia. Genomic DNA analysis identified lipoprotein lipase deficiency due to compound heterozygosity including a novel p...
2015: Lipids in Health and Disease
https://www.readbyqxmd.com/read/25963481/evaluation-of-food-effect-on-the-oral-bioavailability-of-pradigastat-a-diacylglycerol-acyltransferase-1-inhibitor
#18
RANDOMIZED CONTROLLED TRIAL
Surya P Ayalasomayajula, Charles D Meyers, Jing Yu, Mark Kagan, Ralph Matott, Parasar Pal, Tapan Majumdar, Zhenzhong Su, Anne Crissey, Sam Rebello, Gangadhar Sunkara, Jin Chen
Pradigastat, a diacylglycerol acyltransferase 1 inhibitor, is being developed for the treatment of familial chylomicronemia syndrome. The results of two studies that evaluated the effect of food on the oral bioavailability of pradigastat using randomized, open-label, parallel group designs in healthy subjects (n=24/treatment/study) are presented. In study 1, a single dose of 20 mg pradigastat was administered under the fasted condition or with a high-fat meal. In study 2, a single dose of 40 mg pradigastat was administered under the fasted condition or with a low- or high-fat meal...
October 2015: Biopharmaceutics & Drug Disposition
https://www.readbyqxmd.com/read/25936326/practical-recommendations-for-the-management-of-hyperlipidemia
#19
REVIEW
S Fischer, U Schatz, U Julius
Hyperlipidemia is a risk factor for atherosclerosis. Raised low-density lipoprotein cholesterol (LDL-C) and lipoprotein(a) levels are severe risk factors for atherosclerosis. The role of high-density lipoprotein cholesterol (HDL-C) is controversial. Total cholesterol, LDL-C, HDL-C, triglycerides and lipoprotein(a) levels should be determined in a fasting state. The basis of treating hyperlipidemia remains diet, physical exercise and weight reduction. Olive oil and nuts have been shown to be beneficial. Statins remain first line drug treatment...
May 2015: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/25889044/effect-of-the-dgat1-inhibitor-pradigastat-on-triglyceride-and-apob48-levels-in-patients-with-familial-chylomicronemia-syndrome
#20
Charles Daniel Meyers, Karine Tremblay, Ahmed Amer, Jin Chen, Liewen Jiang, Daniel Gaudet
BACKGROUND: Familial chylomicronemia syndrome (FCS) is a rare lipid disease caused by complete lipoprotein lipase (LPL) deficiency resulting in fasting chylomicronemia and severe hypertriglyceridemia. Inhibition of diacylglycerol acyltransferase 1 (DGAT1), which mediates chylomicron triglyceride (TG) synthesis, is an attractive strategy to reduce TG levels in FCS. In this study we assessed the safety, tolerability and TG-lowering efficacy of the DGAT1 inhibitor pradigastat in patients with FCS...
February 18, 2015: Lipids in Health and Disease
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