Lipoprotein lipase deficiency (also known as " familial chylomicronemia syndrome", "chylomicronemia", [1 ] "chylomicronemia syndrome" [2 ] and " [3 ] hyperlipoproteinemia type Ia" ) is caused by a mutation in the gene which codes [4 ] lipoprotein lipase. [2 ] :533 As a result, afflicted individuals lack the ability to produce lipoprotein lipase enzymes necessary for effective breakdown of fatty acids.
Incidence [ edit ]
The disorder affects about 1 out of 1,000,000 people.
Treatment [ edit ]
In 2012, the European Commission gave
Glybera market authorization to sell a gene therapy treatment for chylomicronemia. [6 ]
Patient empowerment [ edit ]
In October 2012, 3 officially recognised patient groups (Heart UK, CholCo & Association Pancréatites Chroniques) joined together to launch an international online patient community for Lipoprotein Lipase Deficiency on the RareConnect.org platform.
See also [ edit ]
References [ edit ]
^ Santamarina-Fojo, S (1998). "Familial lipoprotein lipase deficiency.". Endocrinol Metab Clin North Am 27 (3): 551–567. PMID 9785052.
^ a b James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0. OCLC 62736861.
^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. OCLC 212399895.
^ Online 'Mendelian Inheritance in Man' (OMIM) HYPERLIPOPROTEINEMIA, TYPE I -238600, updated 03/18/2004. As of October 2012, mention of type Ia no longer appears in the OMIM record.
^ A.D.A.M. Editorial Board (2011-05-29). "Familial lipoprotein lipase deficiency". In Dugdale, III, David C.; Zieve, David. ( A.D.A.M. Medical Encyclopedia National Center for Biotechnology Information, published May 29, 2011) . Retrieved October 15, 2012
External Links [ edit ]
Familial Chylomicronemia Syndrome is an online educational initiative to provide clinicians with peer reviewed information on how to diagnose and treat patients with familial chylomicronemia syndrome (FCS) [also known as hyperlipoproteinemia type 1 or lipoprotein lipase deficiency].