Lipoprotein lipase deficiency

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Lipoprotein lipase deficiency
Classification and external resources
ICD-10 E78
OMIM 238600
DiseasesDB 4697
MedlinePlus 000408
MeSH D008072
GeneReviews

Lipoprotein lipase deficiency (also known as "familial chylomicronemia syndrome",[1] "chylomicronemia",[2] "chylomicronemia syndrome"[3] and "hyperlipoproteinemia type Ia"[4]) is caused by a mutation in the gene which codes 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.[5]

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.[7]

See also[edit]

References[edit]

  1. ^ Santamarina-Fojo, S (1998). "Familial lipoprotein lipase deficiency.". Endocrinol Metab Clin North Am 27 (3): 551–567. PMID 9785052. 
  2. ^ 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. 
  3. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. OCLC 212399895. 
  4. ^ 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.
  5. ^ 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 
  6. ^ http://www.egovmonitor.com/2012/11/05/costly-gene-therapy-approved-for-commercial-use-in-europe
  7. ^ http://www.rareconnect.org/en/community/lipoprotein-lipase-deficiency

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].