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chylomicronemia syndrome

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https://www.readbyqxmd.com/read/29534878/roundtable-discussion-familial-chylomicronemia-syndrome-diagnosis-and-management
#1
REVIEW
William Virgil Brown, Ira Goldberg, Barton Duell, Daniel Gaudet
Plasma triglyceride concentrations are normally below 150 mg/dL in the fasting state. However, these lipids can reach values of several thousand mg/dL. Elevations in this range are due to a massive retention of chylomicrons and usually result from multiple genetic variants with superimposed influences such as diabetes and immune disorders. Less commonly, major gene defects in lipoprotein metabolism can be the cause. These may present soon after birth with strong evidence of familial penetrance. The causes of this syndrome have been discussed in a Roundtable published in the most recent issue of this Journal...
March 5, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29454679/the-prevalence-and-etiology-of-extreme-hypertriglyceridemia-in-children-data-from-a-tertiary-children-s-hospital
#2
Nivedita Patni, Xilong Li, Beverley Adams-Huet, Abhimanyu Garg
BACKGROUND: Extreme hypertriglyceridemia (eHTG; serum triglycerides ≥ 2000 mg/dL) poses a significant risk for acute pancreatitis. There is paucity of data regarding the prevalence and etiology of eHTG in children. OBJECTIVE: To determine the prevalence, clinical features and etiologies of patients with eHTG at a tertiary children's hospital in the United States and in the United States National Health and Nutrition Examination Survey (NHANES). METHODS: A retrospective analysis was conducted of the electronic medical records of the Children's Medical Center, Dallas, from 2000-2015, and the NHANES data from 2005-2014 for eHTG...
January 12, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29452917/roundtable-on-etiology-of-familial-chylomicronemia-syndrome
#3
REVIEW
William Virgil Brown, Daniel Gaudet, Ira Goldberg, Rob Hegele
No abstract text is available yet for this article.
January 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29452893/a-novel-mutation-in-gpihbp1-causes-familial-chylomicronemia-syndrome
#4
Martine Paquette, Robert A Hegele, Guillaume Paré, Alexis Baass
Familial chylomicronemia syndrome is characterized by severe elevation in serum triglycerides and an increased risk of acute pancreatitis. Although familial chylomicronemia syndrome is mainly caused by mutations in the lipoprotein lipase (LPL) gene, few causal mutations in other genes (ie, APOC2, APOA5, LMF1, and GPIHBP1) have also been reported. In this case report, we present the discovery of a novel mutation in the glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1) gene and discuss its pathogenicity through a familial segregation study...
January 31, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29365426/the-approach-study-a-randomized-double-blind-placebo-controlled-phase-3-study-of-volanesorsen-administered-subcutaneously-to-patients-with-familial-chylomicronemia-syndrome-fcs
#5
Daniel Gaudet, Andres Digenio, Vickie Alexander, Marcello Arca, Alan Jones, Erik Stroes, Jean Bergeron, Ferdando Civeira, Linda Hemphill, Dirk Blom, Joann Flaim, Steven Hughes, Richard Geary, Sotirios Tsimikas, Joseph Witztum, Eric Bruckert
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29288010/molecular-analysis-of-three-known-and-one-novel-lpl-variants-in-patients-with-type-i-hyperlipoproteinemia
#6
A Caddeo, R M Mancina, C Pirazzi, C Russo, K Sasidharan, J Sandstedt, S Maurotti, T Montalcini, A Pujia, T P Leren, S Romeo, P Pingitore
BACKGROUND AND AIMS: Type I hyperlipoproteinemia, also known as familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disorder caused by variants in LPL, APOC2, APOA5, LMF1 or GPIHBP1 genes. The aim of this study was to identify novel variants in the LPL gene causing lipoprotein lipase deficiency and to understand the molecular mechanisms. METHODS AND RESULTS: A total of 3 individuals with severe hypertriglyceridemia and recurrent pancreatitis were selected from the Lipid Clinic at Sahlgrenska University Hospital and LPL was sequenced...
February 2018: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/29277440/gene-targeting-for-chylomicronemia-syndrome-the-brave-new-world
#7
EDITORIAL
Federica Fogacci, Arrigo F G Cicero
No abstract text is available yet for this article.
February 2018: Atherosclerosis
https://www.readbyqxmd.com/read/29212334/-hyperlipoprotienemias-and-not-only-atherosclerosis-fragments-from-history-and-present
#8
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
#9
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...
January 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29153744/molecular-and-functional-characterization-of-familial-chylomicronemia-syndrome
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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