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Lipoprotein lipase deficiency

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Title: Lipoprotein lipase deficiency  
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Subject: Familial hypertriglyceridemia, Chylomicron retention disease, Hypolipoproteinemia, Hypoalphalipoproteinemia, Familial dysbetalipoproteinemia
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Lipoprotein lipase deficiency

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

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

The disorder affects about 1 out of 1,000,000 people.[5]

Treatment

In 2012, the European Commission approved Glybera, a gene therapy treatment for chylomicronemia.[6] The product will be available for sale in Germany in early 2015. Glybera was developed by uniQuire and will be marketed by Chiesi Group.[7]

Patient empowerment

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.[8]

See also

References

  1. ^ Santamarina-Fojo, S (1998). "Familial lipoprotein lipase deficiency.". Endocrinol Metab Clin North Am 27 (3): 551–567.  
  2. ^ a b James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier.  
  3. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis:  
  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). Dugdale, III, David C.; Zieve, David, eds. Familial lipoprotein lipase deficiency.  
  6. ^ http://www.egovmonitor.com/2012/11/05/costly-gene-therapy-approved-for-commercial-use-in-europe
  7. ^ http://www.uniqure.com/products/glybera/
  8. ^ http://www.rareconnect.org/en/community/lipoprotein-lipase-deficiency

External Links

  • 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].


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