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Original Research

The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study

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Pages 415-423 | Received 07 Mar 2017, Accepted 23 Mar 2017, Published online: 04 Apr 2017

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Read on this site (8)

Louis S. Matza, Glenn A. Phillips, Timothy A. Howell, Nicole Ciffone & Zahid Ahmad. (2020) Estimating health state utilities associated with a rare disease: familial chylomicronemia syndrome (FCS). Journal of Medical Economics 23:9, pages 978-984.
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Rina S. Fox, John Devin Peipert, Montserrat Vera-Llonch, Glenn Phillips & David Cella. (2020) PROMIS® and Neuro-QoLTM measures are valid measures of health-related quality of life among patients with familial chylomicronemia syndrome. Expert Review of Cardiovascular Therapy 18:4, pages 231-238.
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Valerie Salvatore, Alan Gilstrap, Karren R Williams, Swati Thorat, Michael Stevenson, Andrea R Gwosdow, Andrew Hsieh, Brant C Hubbard & David Davidson. (2018) Evaluating the impact of peer support and connection on the quality of life of patients with familial chylomicronemia syndrome. Expert Opinion on Orphan Drugs 6:8, pages 497-505.
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Marcello Arca, Andrew Hsieh, Handrean Soran, Paul Rosenblit, Louis O’Dea & Michael Stevenson. (2018) The effect of volanesorsen treatment on the burden associated with familial chylomicronemia syndrome: the results of the ReFOCUS study. Expert Review of Cardiovascular Therapy 16:7, pages 537-546.
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Ronak Rengarajan, Peter A. McCullough, Anima Chowdhury & Kristen M. Tecson. (2018) Identifying suspected familial chylomicronemia syndrome. Baylor University Medical Center Proceedings 31:3, pages 284-288.
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Rabia Chaudhry, Adie Viljoen & Anthony S. Wierzbicki. (2018) Pharmacological treatment options for severe hypertriglyceridemia and familial chylomicronemia syndrome. Expert Review of Clinical Pharmacology 11:6, pages 589-598.
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Lane B. Benes, Eric J. Brandt & Michael H. Davidson. (2018) Advances in diagnosis and potential therapeutic options for familial chylomicronemia syndrome. Expert Opinion on Orphan Drugs 6:2, pages 141-149.
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Andres Gelrud, Karren R. Williams, Andrew Hsieh, Andrea R. Gwosdow, Alan Gilstrap & Alan Brown. (2017) The burden of familial chylomicronemia syndrome from the patients’ perspective. Expert Review of Cardiovascular Therapy 15:11, pages 879-887.
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Articles from other publishers (33)

Daniel Gaudet. 2024. Clinical Lipidology. Clinical Lipidology 336 344.e2 .
Yu Xia, Wanqi Zheng, Taozi Du, Zizhen Gong, Lili Liang, Ruifang Wang, Yi Yang, Kaichuang Zhang, Deyun Lu, Xiaohong Chen, Yuning Sun, Yu Sun, Bing Xiao & Wenjuan Qiu. (2023) Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency. Journal of Clinical Lipidology 17:6, pages 808-817.
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Rafael H. Isaac, Deyanira Gonzalez-Devia, Carlos O. Mendivil & Edgardo Chapman. (2023) Case report: desensitization of hypersensitivity against the antisense oligonucleotide volanesorsen. Frontiers in Allergy 4.
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Alan Chait & Kenneth R. Feingold. (2023) Approach to patients with hypertriglyceridemia. Best Practice & Research Clinical Endocrinology & Metabolism 37:3, pages 101659.
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Maria Cristina de Oliveira Izar, Raul Dias dos SantosFilhoFilho, Marcelo Heitor Vieira Assad, Antonio Carlos Palandri Chagas, Alceu de Oliveira ToledoJúniorJúnior, Ana Cláudia Cavalcante Nogueira, Ana Cristina Carneiro Fernandes Souto, Ana Maria Pitta Lottenberg, Ana Paula Marte Chacra, Carlos Eduardo dos Santos Ferreira, Charles Marques Lourenço, Cynthia Melissa Valerio, Dennys Esper Cintra, Francisco Antonio Helfenstein Fonseca, Gustavo Aguiar Campana, Henrique Tria Bianco, Josivan Gomes de Lima, Maria Helane Costa Gurgel Castelo, Marileia Scartezini, Miguel Antonio Moretti, Natasha Slhessarenko Fraife Barreto, Rayana Elias Maia, Renan Magalhães MontenegroJuniorJunior, Renato Jorge Alves, Roberta Marcondes Machado Figueiredo, Rodrigo Ambrosio Fock & Tânia Leme da Rocha Martinez. (2023) Posicionamento Brasileiro sobre Síndrome da Quilomicronemia Familiar – 2023. Arquivos Brasileiros de Cardiologia 120:4.
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Irina I. Pshenichnikova, Irina N. Zakharova, Ismail M. Osmanov, Inna I. Trunina, Viktoria V. Pupykina, Indira Kh.-B. Arsel'gova, Yulia V. Koba, Tatiana I. Bocharova & Aia R. Abazova. (2023) Familial chylomicronemia syndrome in children and adolescents: diagnosis and treatment. Pediatrics. Consilium Medicum:4, pages 358-360.
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György Paragh, Ákos Németh, Mariann Harangi, Maciej Banach & Péter Fülöp. (2022) Causes, clinical findings and therapeutic options in chylomicronemia syndrome, a special form of hypertriglyceridemia. Lipids in Health and Disease 21:1.
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Karla Johana Garay García, Ricardo Javier Chong Menendez, Juan Patricio Nogueira & Jefferson Santiago Piedra Andrade. (2022) Síndrome de quilomicronemia familiar: primer caso reportado en Ecuador. Clínica e Investigación en Arteriosclerosis 34:6, pages 326-329.
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Karla Johana Garay García, Ricardo Javier Chong Menendez, Juan Patricio Nogueira & Jefferson Santiago Piedra Andrade. (2022) Familial chylomicronemia syndrome: The first case reported in Ecuador. Clínica e Investigación en Arteriosclerosis (English Edition) 34:6, pages 326-329.
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Timothy Guerriero & Courtney St. James. (2022) A rare case of severe hypertriglyceridemia in a patient with no acute pancreatitis after previous bouts of pancreatitis secondary to hypertriglyceridemia. Journal of Clinical and Translational Endocrinology: Case Reports 23, pages 100102.
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Inês Colaço, Francisco Araújo, Patrício Aguiar, Diogo Cruz, Mafalda Bourbon, João Sequeira Duarte & Manuel Teixeira Veríssimo. (2021) Síndrome de Quilomicronemia Familiar: Algoritmo Diagnóstico. Medicina Interna 28:4, pages 369-377.
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David Davidson, Christina Slota, Montserrat Vera-Llonch, T. Michelle Brown, Andrew Hsieh & Sheri Fehnel. (2021) Development of a novel PRO instrument for use in familial chylomicronemia syndrome. Journal of Patient-Reported Outcomes 5:1.
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Patricia Hernandez, Neena Passi, Taher Modarressi, Vivek Kulkarni, Meshal Soni, Fran Burke, Archna Bajaj & Daniel Soffer. (2021) Clinical Management of Hypertriglyceridemia in the Prevention of Cardiovascular Disease and Pancreatitis. Current Atherosclerosis Reports 23:11.
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Mingying Wang, Yuantao Zhou, Xiaoli He, Chengjun Deng, Xiaoning Liu, Juan Li, Lin Zhou, Ying Li, Yu Zhang, Haifeng Liu & Li Li. (2021) Two novel mutations of the LPL gene in two Chinese family cases with familial chylomicronemia syndrome. Clinica Chimica Acta 521, pages 264-271.
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Hiroaki Okazaki, Takanari Gotoda, Masatsune Ogura, Shun Ishibashi, Kyoko Inagaki, Hiroyuki Daida, Toshio Hayashi, Mika Hori, Daisaku Masuda, Kota Matsuki, Shinji Yokoyama & Mariko Harada-Shiba. (2021) Current Diagnosis and Management of Primary Chylomicronemia. Journal of Atherosclerosis and Thrombosis 28:9, pages 883-904.
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Alan S. Brown, Ehab G. Dababneh, Adib Chaus, Vadzim Chyzhyk, Victor Marinescu & Nataliya Pyslar. 2021. Therapeutic Lipidology. Therapeutic Lipidology 35 80 .
Daniel Gaudet, Michael Stevenson, Nelly Komari, Grace Trentin, Caroline Crowson, Nandini Hadker & Sophie Bernard. (2020) The burden of familial chylomicronemia syndrome in Canadian patients. Lipids in Health and Disease 19:1.
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Chun Yang, Wenhong Tian, Sisi Ma, Mengmeng Guo, Xiao Lin, Fengying Gao, Xiaoyan Dong, Mingming Gao, Yuhui Wang, George Liu & Xunde Xian. (2020) AAV-Mediated ApoC2 Gene Therapy: Reversal of Severe Hypertriglyceridemia and Rescue of Neonatal Death in ApoC2-Deficient Hamsters. Molecular Therapy - Methods & Clinical Development 18, pages 692-701.
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Ying Liu, Zhangzhang Lan, Fang Zhao, Shuangchuan Zhang & Wenyong Zhang. (2020) Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing. Frontiers in Genetics 11.
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A. Baass, M. Paquette, S. Bernard & R.A. Hegele. (2020) Familial chylomicronemia syndrome: an under‐recognized cause of severe hypertriglyceridaemia. Journal of Internal Medicine 287:4, pages 340-348.
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Amitabh V. Nimonkar, Stephen Weldon, Kevin Godbout, Darrell Panza, Susan Hanrahan, Rose Cubbon, Fangmin Xu, John W. Trauger, Jiaping Gao & Andrei Voznesensky. (2020) A lipoprotein lipase–GPI-anchored high-density lipoprotein–binding protein 1 fusion lowers triglycerides in mice: Implications for managing familial chylomicronemia syndrome. Journal of Biological Chemistry 295:10, pages 2900-2912.
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Vadzim Chyzhyk & Alan S. Brown. (2020) Familial chylomicronemia syndrome: A rare but devastating autosomal recessive disorder characterized by refractory hypertriglyceridemia and recurrent pancreatitis. Trends in Cardiovascular Medicine 30:2, pages 80-85.
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Alan ChaitRobert H. Eckel. (2019) The Chylomicronemia Syndrome Is Most Often Multifactorial. Annals of Internal Medicine 170:9, pages 626.
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María José Ariza, José Rioja, Daiana Ibarretxe, Ana Camacho, José Luis Díaz-Díaz, Alipio Mangas, Julio A. Carbayo-Herencia, Pablo Ruiz-Ocaña, Itziar Lamíquiz-Moneo, Daniel Mosquera, Pedro Sáenz, Luis Masana, Ovidio Muñiz-Grijalvo, Sofía Pérez-Calahorra, Pedro Valdivielso, M. Suárez Tembra, Gonzalo Pías Iglesias, J.A. Carbayo Herencia, C. Guerrero Buitrago, L. Vila, C. Morales Coca, E. Llargués Rocabruna, V. Perea Castillo, J. Pedro-Botet, E. Climent, M. Mauri Pont, X. Pinto, E. Ortega Martínez de la Victoria, J. Amor, D. Zambón Rados, F. Blanco Vaca, J.M. Ramiro Lozano, F.J. Fuentes Jiménez, I. Soler, C. Ferrer, A. Zamora Cervantes, A. Vila Belmonte, F.J. Novoa Mogollón, R.M. Sanchez-Hernández, A.B. Expósito Montesdeoca, M.J. Romero Jiménez, M.P. González García, M. Bueno Díez, A. Brea Hernando, C. Lahoz, J. Mostaza Prieto, J. Millán Núñez-Cortés, L. Reinares García, A. Blanco Echevarría, María José Ariza Corbo, J. Rioja Villodres, M.A. Sánchez-Chaparro, S. Jansen Chaparro, P. Sáenz Aranzubía, E. Martorell Mateu, F. Almagro Múgica, O. Muñiz Grijalvo, L. Masana Martín, N. Plana Gil, D. Ibarretxe Gerediaga, C. Rodríguez Borjabad, S. Zabala López, A. Hernández Mijares, J.F. Ascaso Gimilio, L. Pérez García, F. Civeira Murillo, S. Pérez-Calahorra, I. Lamiquiz-Moneo, R. Mateo Gallego, V. Marco Benedí & J. Ferrando Vela. (2018) Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society. Journal of Clinical Lipidology 12:6, pages 1482-1492.e3.
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Dirk J. Blom, Louis O'Dea, Andres Digenio, Veronica J. Alexander, Ewa Karwatowska-Prokopczuk, Karren R. Williams, Linda Hemphill, Ovidio Muñiz-Grijalvo, Raul D. Santos, Seth Baum & Joseph L. Witztum. (2018) Characterizing familial chylomicronemia syndrome: Baseline data of the APPROACH study. Journal of Clinical Lipidology 12:5, pages 1234-1243.e5.
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James M. Falko. (2018) Familial Chylomicronemia Syndrome: A Clinical Guide for Endocrinologists. Endocrine Practice 24:8, pages 756-763.
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Victoria Marco-Benedí, Itziar Lamiquiz-Moneo, Luis A. Álvarez-Sala & Fernando Civeira. (2018) Disappearance of recurrent pancreatitis after splenectomy in familial chylomicronemia syndrome. Atherosclerosis 275, pages 342-345.
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Philippe Moulin, Robert Dufour, Maurizio Averna, Marcello Arca, Angelo B. Cefalù, Davide Noto, Laura D'Erasmo, Alessia Di Costanzo, Christophe Marçais, Luis Antonio Alvarez-Sala Walther, Maciej Banach, Jan Borén, Robert Cramb, Ioanna Gouni-Berthold, Elizabeth Hughes, Colin Johnson, Xavier Pintó, Željko Reiner, Jeanine Roeters van Lennep, Handrean Soran, Claudia Stefanutti, Erik Stroes & Eric Bruckert. (2018) Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an “FCS score”. Atherosclerosis 275, pages 265-272.
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Lauren Williams, Katherine S. Rhodes, Wahida Karmally, Lori A. Welstead, Lori Alexander & Lindsey Sutton. (2018) Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span. Journal of Clinical Lipidology 12:4, pages 908-919.
Crossref
Michael Davidson, Michael Stevenson, Andrew Hsieh, Zahid Ahmad, Jeanine Roeters van Lennep, Caroline Crowson & Joseph L. Witztum. (2018) The burden of familial chylomicronemia syndrome: Results from the global IN-FOCUS study. Journal of Clinical Lipidology 12:4, pages 898-907.e2.
Crossref
Federica Fogacci & Arrigo F.G. Cicero. (2018) Gene targeting for chylomicronemia syndrome: The brave new world. Atherosclerosis 269, pages 254-255.
Crossref
Leah M. Wilson, Russell R. Cross & P. Barton Duell. (2018) Reduced psychological distress in familial chylomicronemia syndrome after patient support group intervention. Journal of Clinical Lipidology 12:1, pages 240-242.
Crossref
Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S. Wierzbicki & Handrean Soran. (2017) The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study. Orphanet Journal of Rare Diseases 12:1.
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