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Genetics of Lipid Disorders

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Lipid Management

Abstract

The majority of lipid disorders have a genetic basis of inheritance; however, not all of these disorders are associated with an increased risk of cardiovascular disease (CVD). In this chapter we review the most common genetic disorders of lipid metabolism summarizing the genetic defects, clinical presentations and treatment modalities. We present evidence from recent genetic epidemiology studies identifying disorders linked to increased CVD risk.

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References

  1. Chait A, Brunzell JD. Acquired hyperlipidemia (secondary dyslipoproteinemias). Endocrinol Metab Clin North Am. 1990; 19(2):259–78. (PubMed PMID: 2192873. Epub 1990/06/01. Eng).

    CAS  PubMed  Google Scholar 

  2. Fredrickson DS, Lees RS. A system for phenotyping hyperlipoproteinemia. Circulation. 1965;31:321–7. (PubMed PMID: 14262568. Epub 1965/03/01. Eng).

    Article  CAS  PubMed  Google Scholar 

  3. Voight BF, Peloso GM, Orho-Melander M, Frikke-Schmidt R, Barbalic M, Jensen MK, et al. Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. The Lancet. 2012;380(9841):572–80.

    Article  CAS  Google Scholar 

  4. Hussain MM. A proposed model for the assembly of chylomicrons. Atherosclerosis. 2000;148(1):1–15. (PubMed PMID: 10580165).

    Article  CAS  PubMed  Google Scholar 

  5. Santamarina-Fojo S. The familial chylomicronemia syndrome. Endocrinol Metab Clin North Am. 1998;27(3):551–67, viii. (PubMed PMID: 9785052. Epub 1998/10/24. Eng).

    Article  CAS  PubMed  Google Scholar 

  6. Gotoda T, Shirai K, Ohta T, Kobayashi J, Yokoyama S, Oikawa S, et al. Diagnosis and management of type I and type V hyperlipoproteinemia. J Atheroscler Thromb. 2012;19(1):1–12. (PubMed PMID: 22129523. Epub 2011/12/02. Eng).

    Article  CAS  PubMed  Google Scholar 

  7. Santamarina-Fojo S. The familial chylomicronemia syndrome. Endocrinol Metab Clin North Am. 1998;27(3):551–67.

    Article  CAS  PubMed  Google Scholar 

  8. Illingworth DR, Connor WE, Miller RG. Abetalipoproteinemia: report of two cases and review of therapy. Arch Neurol. 1980;37(10):659–62.

    Article  CAS  PubMed  Google Scholar 

  9. Youngblom E, Knowles JW. Familial hypercholesterolemia. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, et al., editors. GeneReviews(R). Seattle (WA) 1993.

    Google Scholar 

  10. Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest. 2003;111(12):1795–803. (PubMed PMID: 12813012. Pubmed Central PMCID: PMC161432. Epub 2003/06/19. Eng).

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  11. Tsouli SG, Kiortsis DN, Argyropoulou MI, Mikhailidis DP, Elisaf MS. Pathogenesis, detection and treatment of Achilles tendon xanthomas. Eur J Clin Invest. 2005;35(4):236–44. (PubMed PMID: 15816992. Epub 2005/04/09. eng.)

    Article  CAS  PubMed  Google Scholar 

  12. !!! INVALID CITATION!!!

    Google Scholar 

  13. Civeira F, Hypercholesterolemia IPoMoF. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis. 2004;173(1):55–68.

    Article  CAS  PubMed  Google Scholar 

  14. Repas TB, Tanner JR. Preventing early cardiovascular death in patients with familial hypercholesterolemia. J Am Osteopath Assoc. 2014;114(2):99–108. (PubMed PMID: 24481802. Epub 2014/02/01. Eng).

    Article  PubMed  Google Scholar 

  15. Cohen JC, Boerwinkle E, Mosley Jr TH, Hobbs HH. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006;354(12):1264–72.

    Article  CAS  PubMed  Google Scholar 

  16. Cuchel M, Bloedon LT, Szapary PO, Kolansky DM, Wolfe ML, Sarkis A, et al. Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia. N Engl J Med. 2007;356(2):148–56.

    Article  CAS  PubMed  Google Scholar 

  17. Liscinsky M. FDA approves new orphan drug Kynamro to treat inherited cholesterol disorder. In: Administration USFaD, editor. FDA news release. 10903 New Hampshire Avenue, Silver Spring, MD 20993: U.S. Food and Drug Administration; 2013.

    Google Scholar 

  18. Mahley RW, Huang Y, Rall SC Jr. Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia). Questions, quandaries, and paradoxes. J Lipid Res. 1999;40(11):1933–49. (PubMed PMID: 10552997. Epub 1999/12/20. Eng).

    CAS  PubMed  Google Scholar 

  19. Berglund L, Brunzell JD, Goldberg AC, Goldberg IJ, Sacks F, Murad MH, et al. Evaluation and treatment of hypertriglyceridemia: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2012;97(9):2969–89. (PubMed PMID: 22962670. Pubmed Central PMCID: PMC3431581. Epub 2012/09/11. Eng).

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  20. McLean JW, Tomlinson JE, Kuang WJ, Eaton DL, Chen EY, Fless GM, et al. cDNA sequence of human apolipoprotein(a) is homologous to plasminogen. Nature. 1987;330(6144):132–7. (PubMed PMID: 3670400. Epub 1987/11/12. Eng).

    Article  CAS  PubMed  Google Scholar 

  21. Tsimikas S, Witztum JL. The role of oxidized phospholipids in mediating lipoprotein(a) atherogenicity. Curr Opin Lipidol. 2008;19(4):369–77. (PubMed PMID: 18607184. Epub 2008/07/09. Eng).

    Article  CAS  PubMed  Google Scholar 

  22. Danesh J, Collins R, Peto R. Lipoprotein(a) and coronary heart disease. Meta-analysis of prospective studies. Circulation. 2000;102(10):1082–5. (PubMed PMID: 10973834. Epub 2000/09/07. Eng).

    Article  CAS  PubMed  Google Scholar 

  23. Takagi H, Umemoto T. Atorvastatin decreases lipoprotein(a): a meta-analysis of randomized trials. Int J Cardiol. 2012;154(2):183–6. (PubMed PMID: 21996415. Epub 2011/10/15. Eng).

    Article  PubMed  Google Scholar 

  24. Lee MH, Lu K, Patel SB. Genetic basis of sitosterolemia. Curr Opin Lipidol. 2001;12(2):141–9. (PubMed PMID: 11264985. Pubmed Central PMCID: PMC1350992. Epub 2001/03/27. Eng).

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  25. Third JL, Montag J, Flynn M, Freidel J, Laskarzewski P, Glueck C. Primary and familial hypoalphalipoproteinemia. Metabolism: Clin Expt. 1984;33(2):136–46.

    Article  CAS  Google Scholar 

  26. Franceschini G, Sirtori CR, Capurso 2nd A 2nd, Weisgraber K, Mahley R. A-IMilano apoprotein. Decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family. J Clin Invest. 1980;66(5):892.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  27. Serfaty-Lacrosniere C, Civeira F, Lanzberg A, Isaia P, Berg J, Janus ED, et al. Homozygous Tangier disease and cardiovascular disease. Atherosclerosis. 1994;107(1):85–98. (PubMed PMID: 7945562).

    Article  CAS  PubMed  Google Scholar 

  28. Calabresi L, Franceschini G. Lecithin:cholesterol acyltransferase, high-density lipoproteins, and atheroprotection in humans. Trends Cardiovasc Med. 2010;20:50–3.

    Article  CAS  PubMed  Google Scholar 

  29. Sen D, Dagdelen S, Erbas T. Hepatosteatosis with hypobetalipoproteinemia. J Natl Med Assoc. 2007;99(3):284–6. (PubMed PMID: 17393954. Pubmed Central PMCID: PMC2569618. Epub 2007/03/31. Eng).

    PubMed Central  PubMed  Google Scholar 

  30. Hussain MM, Rava P, Pan X, Dai K, Dougan SK, Iqbal J, et al. Microsomal triglyceride transfer protein in plasma and cellular lipid metabolism. Curr Opin Lipidol. 2008;19(3):277–84. (PubMed PMID: 18460919. Epub 2008/05/08. eng.

    Article  CAS  PubMed  Google Scholar 

  31. Tarugi P, Averna M. Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum. Adv Clin Chem. 2011;54:81–107. (PubMed PMID: 21874758. Epub 2011/08/31. Eng).

    Article  CAS  PubMed  Google Scholar 

  32. Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management. J Inherit Metab Dis. 2014;37(3):333–9.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. University of Southern California, 2250 Alcazar st, rm 123 A, 90033, Los Angeles, CA, USA

    Marija Sto ja nova Jordanov

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  1. Marija Sto ja nova Jordanov
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Correspondence to Marija Sto ja nova Jordanov .

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  1. University of Southern California Lipid Clinic, Los Angeles, California, USA

    Hussein Yassine

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Jordanov, M.j.n. (2015). Genetics of Lipid Disorders. In: Yassine, H. (eds) Lipid Management. Springer, Cham. https://doi.org/10.1007/978-3-319-11161-2_2

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  • DOI: https://doi.org/10.1007/978-3-319-11161-2_2

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-11160-5

  • Online ISBN: 978-3-319-11161-2

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