Medicine:Lipoprotein lipase deficiency
| Lipoprotein lipase deficiency | |
|---|---|
| Other names | LPLD; familial chylomicronemia syndrome,[1] chylomicronemia,[2]: 533 chylomicronemia syndrome,[3] familial hyperchylomicronemia, familial hyperchylomicronemia syndrome,[4] hyperlipoproteinemia type Ia.,[5] type I hyperlipoproteinemia[6] |
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| Lipoprotein lipase deficiency is inherited via autosomal recessive manner | |
| Causes | Genetic |
Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and liver, which in turn can lead to diabetes. The disorder only occurs if a child acquires the defective gene from both parents (it is autosomal recessive). It is managed by restricting fat in diet to less than 20 g/day.[7]
Signs and symptoms
Complications
Diagnosis
Lab tests show massive accumulation of chylomicrons in the plasma and corresponding severe hypertriglyceridemia. Typically, the plasma in a fasting blood sample appears creamy (plasma lactescence).
Lipid measurements
LPL enzyme
Molecular genetic testing
Treatment
Treatment of LPLD has two different objectives: immediate prevention of pancreatitis attacks and long-term reduction of cardiovascular disease risk.
Olezarsen (Tryngolza) was approved for medical use in the United States in December 2024.[8]
Gene therapy
In 2012, the European Commission approved alipogene tiparvovec (Glybera), a gene therapy for adults with familial LPLD (confirmed by genetic testing) and having severe or multiple pancreatitis attacks despite dietary fat restrictions. It is the first gene therapy to receive marketing authorization in the European Union; it was priced at about $1 million per treatment, and as of 2016, only one person had been treated with it commercially.[9] A total of 31 people were treated with Glybera, most for free in clinical trials before it was taken off the market.[10]
Incidence
The disorder affects about 1 out of 1,000,000 people;[11] however, epidemiological data are limited and there are regional differences due to cofounder effect (e.g. in Canada) or intermarriage.
See also
- Primary hyperlipoproteinemia
- Familial apoprotein CII deficiency
- List of cutaneous conditions
References
- ↑ Santamarina-Fojo, S (1998). "Familial lipoprotein lipase deficiency.". Endocrinol Metab Clin North Am 27 (3): 551–567. doi:10.1016/S0889-8529(05)70025-6. PMID 9785052.
- ↑ James, William D. et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6. OCLC 62736861.
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1. OCLC 212399895.
- ↑ Santamarina-Fojo, S; Brewer HB, Jr (20 February 1991). "The familial hyperchylomicronemia syndrome. New insights into underlying genetic defects.". JAMA 265 (7): 904–8. doi:10.1001/jama.1991.03460070086049. PMID 1992190.
- ↑ 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.
- ↑ "Familial lipoprotein lipase deficiency: MedlinePlus Medical Encyclopedia" (in en). https://medlineplus.gov/ency/article/000408.htm.
- ↑ Burnett, John R.; Hooper, Amanda J.; Hegele, Robert A. (June 22, 2017). "Familial Lipoprotein Lipase Deficiency". in Adam, MP; Ardinger, HH; Pagon, RA. GeneReviews. Seattle: University of Washington. https://www.ncbi.nlm.nih.gov/books/NBK1308/.
- ↑ "Tryngolza (olezarsen) approved in U.S. as first-ever treatment for adults living with familial chylomicronemia syndrome as an adjunct to diet" (Press release). Ionis Pharmaceuticals. 19 December 2024. Retrieved 20 December 2024 – via PR Newswire.
- ↑ Regalado, Antonio (May 4, 2016). "The World's Most Expensive Medicine Is a Bust". MIT Technology Review. https://www.technologyreview.com/2016/05/04/245988/the-worlds-most-expensive-medicine-is-a-bust/.
- ↑ Crowe, Kelly (17 November 2018). "The million-dollar drug". CBC (Canadian Broadcasting Corporation). https://newsinteractives.cbc.ca/longform/glybera/.
- ↑ A.D.A.M. Editorial Board (2011-05-29). Dugdale, III, David C.; Zieve, David. eds. Familial lipoprotein lipase deficiency. National Center for Biotechnology Information. May 29, 2011. https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001445/. Retrieved October 15, 2012.
Further reading
- Gaudet, D; de Wal, J; Tremblay, K; Déry, S; van Deventer, S; Freidig, A; Brisson, D; Méthot, J (June 2010). "Review of the clinical development of alipogene tiparvovec gene therapy for lipoprotein lipase deficiency.". Atherosclerosis. Supplements 11 (1): 55–60. doi:10.1016/j.atherosclerosissup.2010.03.004. PMID 20427244.
- "LPL gene" (in en). NIH Genetics Home Reference. February 2015. https://medlineplus.gov/genetics/gene/lpl/.
- Hegele, RA et al. (August 2014). "The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management". The Lancet. Diabetes & Endocrinology 2 (8): 655–66. doi:10.1016/S2213-8587(13)70191-8. PMID 24731657.
External links
| Classification | |
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| External resources |
Template:Lipid metabolism disorders
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