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]

  • FCS Connect is the online resource for people with Familial Chylomicronemia Syndrome, Hyperlipoproteinemia type 1, Chylomicronemia syndrome, Lipoprotein lipase deficiency to share medical histories with researchers in pursuit of treatments and to learn from others with the same disease.
  • 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].