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Research Papers

If you come across more articles about FCS / LPLD  please let us know here

Management of severe hypertriglyceridemia due to lipoprotein lipase deficiency in children Sarah W Y Poon, Karen K Y Leung and Joanna Y L Tung, July 2019

Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an “FCS score”  Philippe Moulina  Robert Dufourb  Maurizio AvernaMarcello ArcaAngelo B. CefalùDavide Notoc  Laura D’ErasmoAlessia Di CostanzoChristophe MarçaisLuis Antonio Alvarez-Sala Walthere  Maciej Banachf  Jan Boréng  Robert Crambh  Ioanna Gouni-Bertholdi  Elizabeth HughesColin JohnsonXavier Pintól  Željko Reinerm   Jeanine Roeters van Lennep Handrean SoranClaudia Stefanuttip  Erik Stroesq  Eric Bruckertr

Identification of homozygous lipoprotein lipase gene mutation in a woman with recurrent aggravation of hypertriglyceridaemia induced by pregnancy, SHIGEKI SUGA, NAOKI TAMASAWA, ICHIRO KINPARA, HIROSHI MURAKAMI, NOBUHIKO KASAI, TOMIO ONUMA,YASUYUKI IKEDA, ATSUKO TAKAGI & TOSHIHIRO SUDA

NCBI Resources, GeneReviews
Familial Lipoprotein Lipase Deficiency, John D Brunzell, MD

American Heart Association
Intramuscular Administration of AAV1-Lipoprotein LipaseS447X Lowers Triglycerides in lipoprotein Lipase-Deficient Patients

The New England Journal of Medicine
Premature Atherosclerosis in Patients with Familial Chylomicronemia Caused by Mutations in the Lipoprotein Lipase Gene
Pascale Benlian, M.D., Ph.D., Jean Luc De Gennes, M.D., Luc Foubert, M.D., Hanfang Zhang, Ph.D., S. Eric Gagné, M.Sc., and Michael

Gene Therapy
Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial
D Gaudet1,2, J Méthot1,2, S Déry1, D Brisson1,2, C Essiembre1, G Tremblay1, K Tremblay1,2, J de Wal3, J Twisk3, N van den Bulk3, V Sier-Ferreira3 and S van Deventer3

Current Opinion on Lipidology
Gene therapy for lipoprotein lipase deficiency
Gaudet, Daniela; Méthot, Juliea; Kastelein, Johnb

Informa Healthcare
Safety profile of recombinant adeno-associated viral vectors: focus on alipogene tiparvovec (Glybera®)

Journal of Biological Chemistry
Catalytic triad residue mutation (Asp156—-Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447—-Ter) in a Turkish family
F Faustinella,  A Chang,  J P Van Biervliet,  M Rosseneu, N Vinaimont, L C Smith, S H Chen, and L Chan

Journal of Clinical Investigation
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
T GotodaN YamadaM KawamuraK KozakiN MoriS IshibashiH ShimanoF TakakuY YazakiY Furuichi

Triglyceride-induced diabetes associated with familial lipoprotein lipase deficiency.
G MingroneF L HenriksenA V GrecoL N KroghE Capristo, A GastaldelliM CastagnetoE FerranniniG Gasbarrini and H Beck-Nielsen

The Journal of Clinical Endocrinology & Metabolism
Prevention of Recurrent Pancreatitis in Familial Lipoprotein Lipase Deficiency with High-Dose Antioxidant Therapy
A. P. HeaneyN. SharerB. RamehJ. M. Braganza, and P.N. Durrington

ScienceDirect, The Journal of Pediatrics, Volume 133, Issue 3, September 1998, Pages 417-423
Familial lipoprotein lipase deficiency in infancy: Clinical, biochemical, and molecular study
Juan Carlos Feoli-Fonseca, MD, Emile Lévy, PhD, Muriel Godard, RD, Marie Lambert, MD

Dovepress, Volume 2014:4, May 2014, Pages 47-54
An update on gene therapy for the treatment of lipoprotein lipase deficiency
Andrew E. Libby, Hong Wang

Journal of Clinical Lipidology, May-June 2014, Volume 8, Issue 3, Pages 287-295
Genotype-phenotype relationships in patients with type I hyperlipoproteinemia
Neema Chokshi, MD, Sarah D. Blumenschein, MD, Zahid Ahmad, MD, Abhimanyu Garg, MD

Journal of Clinical Lipidology, November-December 2014, Volume 8, Issue 6, Pages 635-639
Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1
Zahid Ahmad, MD, Don P. Wilson, MD, FNLA

Chylomicronaemia-current diagnosis and future therapies
Amanda J. Brahm & Robert A. Hegele

Antisense Inhibition of Apolipoprotein C-III in Patients with Hypertriglyceridaemia  Daniel Gaudet, M.D., Ph.D., Veronica J. Alexander, Ph.D., Brenda F. Baker, Ph.D., Diane Brisson, Ph.D., Karine Tremblay, Ph.D., Walter Singleton, M.D., Richard S. Geary, Steven G. Hughes, M.B., B.S., Nicholas J. Viney, B.Sc., Mark J. Graham, M.S., Rosanne M. Crooke, Ph.D., Joseph L. Witztum, M.D., et al.

Prevention of Recurrent Pancreatitis in Familial Lipoprotein Lipase Deficiency with High-Dose Antioxidant Therapy
A. P. HEANEY, N. SHARER, B. RAMEH, J. M. BRAGANZA, AND P. N. DURRINGTON

A Randomized Controlled Trial of Antioxidant Supplementation for Pain Relief in Patients With Chronic Pancreatitis
Gareth R. Kirk, M.D., F.R.C.S., Jonathan S. White, B.Med.Sci.(Hons), Ph.D., F.R.C.S. (Gen Surg), Lloyd McKie, M.D., F.R.C.S., Mike Stevenson, B.Sc. (Hons), F.S.S., CDip.A.F., P.G.C.H.E.T., Ian Young, B.Sc., M.D., F.R.C.P., F.R.C.Path, W.D. Barry Clements, B.Sc.,
M.D., F.R.C.S., Brian J. Rowlands, M.D., F.R.C.S., F.A.C.S.

Combined Antioxidant Therapy Reduces Pain and Improves Quality of Life in Chronic Pancreatitis
Gareth R. Kirk, M.D., F.R.C.S., Jonathan S. White, B.Med.Sci.(Hons), Ph.D., F.R.C.S. (Gen Surg), Lloyd McKie, M.D., F.R.C.S., Mike Stevenson, B.Sc. (Hons), F.S.S., CDip.A.F., P.G.C.H.E.T., Ian Young, B.Sc., M.D., F.R.C.P., F.R.C.Path, W.D. Barry Clements, B.Sc.,
M.D., F.R.C.S., Brian J. Rowlands, M.D., F.R.C.S., F.A.C.S.

Yoga: A tool for improving the quality of life in chronic pancreatitis
World Journal of Gastroenterology ISSN 1007-9327, 2007 January 21; 13(3): 391-397
Surinder Sareen, Vinita Kumari, Karaminder Singh Gajebasia, Nimanpreet Kaur Gajebasia

Delayed severe hypertriglyceraedemia from Tamoxifen
Keith T. Kanel, M.D., Norman Wolmark, M.D.,Allegheny University of the Health Sciences, Pittsburgh, PA 15212, Paul D. Thompson, M.D., University of Pittsburgh Medical Center, Pittsburgh, PA 15261
The New England Journal of Medicine, 1997

Case Report
Two Siblings with Familial Chylomicronemia Syndrome: Disease Course and Effectiveness of Early Treatment
Hanan AL Azkawi and Ibrahim  AlAlwan

Case Report
Exchange transfusions for extreme hypertriglyceridemia in a 7-week-old infant with multi-organ failure. Ghoor S1Berlyn P2Brey N3.