Familial Chylomicronemia Syndrome | Resources
Familial Chylomicronemia Syndrome
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Patient Registry
The CONNECT LPLD Registry brings together persons affected by FCS and professionals involved in their medical care and research. The registry is an open document for patients and physicians to examine data. The registry wil provide patient reported outcomes that can be used to better develop natural history and clinical trials. Physicians are encouraged to inform their patients with FCS of the opportunity to be part of the registry.

This registry is public and data are available to the patients who enroll and to all physicians who register on the website. This link provides a handout to give to patients with instructions on how to enroll in the registry.

Heart UK: Familial Lipoprotein Lipase Deficiency
Heart UK has an excellent overview of FCS, which can be accessed by clicking here

FCS Video Library
Videos produced for these educational webpages with Ira Goldberg M.D., Department of Medicine, Columbia University, New York, NY, Wahida Karmally, DrPH,RD,CDE,CLS, Irving Institute for Clinical and Translational Research, Columbia University, New York NY, Institute of Human Nutrition, Columbia University New York, NY, and Daniel Rader M.D., Perelman School of Medicine, University of Pennsylvania, Philadelphia PA, can be seen at FCS Video Library.

References
  1. Bryant LM, Christopher DM, Giles AR et al. Lessons learned from the clinical development and market authorization of Glybera. Human Gene Ther Clin Dev. 2013;24(1):55-64.
  2. Gaudet D, M├ęthot J, Kastelein J. Gene therapy for lipoprotein lipase deficiency. Curr Opin Lipidol. 2012;23(4):310-320.
  3. Leaf DA. Chylomicronemia and the Chylomicronemia syndrome: a practical approach to management. Am J Med. 2008;121(1):10-12.
  4. Gaudet D, de Wal J, Tremblay K, et al. Review of the clinical development of alipogene tiparvovec gene therapy for lipoprotein lipase deficiency. Atheroscler Suppl. 2010;11(1):55-60.
  5. Pouwels ED, Blom DJ, Firth JC, Henderson HE, Marais AD. Severe hypertriglyeridaemia as a result of familial chylomicroaemia: the Cape Town experience. S Afr Med J. 2008;98(2):105-108.
  6. Santamarina-Fojo S. The familial chylomicronemia syndrome. Endocrinol Metab Clin North Am. 1998;27(3):551-567.
  7. Munigoti SP, Rees A. Hypertriglyceridaemia, LPL deficiency and pancreatitis: pathogenesis and therapeutic options. Br J Diabetes Vasc Dis. 2011;11(3):107-112.
Additional Scientific References
  • Gunduz M, Koc N, Ozaydin E, Ekici F. Hypertrophic Cardiomyopathy with Familial Chylomicronemia Syndrome: Is it an Incidental Finding or a New Association? Indian J Pediatr 2014. [Epub ahead of print]
  • Brunzell JD, Schrott HG. The interaction of familial and secondary causes of hypertriglyceridemia: role of pancreatitis. J Clin Lipidol. 2012;6(5):409-412.
  • Surendran RP, Visser ME, Heemelaar S, Wang J, Peter J, Defesche JC et al. Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. J Intern Med 2012; 272(2):185-196.
  • Al Azkawi H, Alalwan I. Two siblings with familial chylomicronemia syndrome: disease course and effectiveness of early treatment. Case Rep Med 2010; 2010:807434.
  • Martin-Campos JM, Julve J, et al. Molecular analysis of chylomicronemia in a clinical laboratory setting: Diagnosis of 13 cases of lipoprotein lipase deficiency. Clin Chim Acta 2013; 429C:61-68.
  • Sugandhan S, Khandpur S, Sharma VK. Familial chylomicronemia syndrome. Pediatr Dermatol 2007; 24(3):323-325.
  • Burnett JR, Hooper AJ. Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency. Curr Opin Mol Ther 2009; 11(6):681-691.
  • Haddley K. Alipogene tiparvovec for the treatment of lipoprotein lipase deficiency. Drugs Today (Barc) 2013; 49(3):161-170.
  • Gaudet D, Methot J, Dery S, et al. Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial. Gene Ther 2013; 20(4):361-369.
  • Johansen CT, Hegele RA. Genetic bases of hypertriglyceridemic phenotypes. Curr Opin Lipidol 2011; 22(4):247-253.
  • Goldberg IJ. Hypertriglyceridemia: impact and treatment. Endocrinol Metab Clin North Am 2009; 38(1):137-149.
  • Viljoen A, Wierzbicki AS. Diagnosis and treatment of severe hypertriglyceridemia. Expert Rev Cardiovasc Ther 2012; 10(4):505-514.
  • Gaudet D, Signorovitch J, Swallow E, et al. Medical resource use and costs associated with chylomicronemia. J Med Econ 2013; 16(5):657-666.
  • Carpentier AC, Frisch F, Labbe SM, et al. Effect of alipogene tiparvovec (AAV1-LPL(S447X)) on postprandial chylomicron metabolism in lipoprotein lipase-deficient patients. J Clin Endocrinol Metab 2012; 97(5):1635-1644.
  • Bryant LM, Christopher DM, Giles AR, Hinderer C, Rodriguez JL, Smith JB et al. Lessons learned from the clinical development and market authorization of Glybera. Hum Gene Ther Clin Dev 2013; 24(2):55-64.
  • Wierzbicki AS, Viljoen A. Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency. Expert Opin Biol Ther 2013; 13(1):7-10.
  • Watts GF, Ooi EM, Chan DC. Demystifying the management of hypertriglyceridaemia. Nat Rev Cardiol 2013; 10(11):648-661.
  • Gotoda T, Shirai K, Ohta T, et al. Diagnosis and management of type I and type V hyperlipoproteinemia. J Atheroscler Thromb 2012; 19(1):1-12.
  • Rao AG, Konda C, Jhamnani KK. Chylomicronemia syndrome. Indian J Dermatol Venereol Leprol 2009; 75(2):220.
  • Kota SK, Kota SK, Jammula S, Modi KD. Familial chylomicronemia syndrome- an uncommon cause of acute pancreatitis with encephalopathy. Indian J Gastroenterol 2012; 31(5):277-279.
  • Ewang-Emukowhate M, Wierzbicki AS. Lipid-lowering agents. J Cardiovasc Pharmacol Ther 2013; 18(5):401-411.
  • Ferreira V, Twisk J, Kwikkers K, et al. Immune responses to intramuscular administration of alipogene tiparvovec (AAV1-LPLS447X) in a phase II clinical trial of Lipoprotein Lipase deficiency (LPLD) gene therapy. Hum Gene Ther 2013.
  • Johansen CT, Hegele RA. Genetic bases of hypertriglyceridemic phenotypes. Curr Opin Lipidol. 2011;22(4):247-253.
FCS Patient Registry
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