Familial hypercholesterolemia (FH) is a genetic disease presented by high levels of serum low density lipoprotein (LDL), xanthomas and early coronary artery disease (CAD). The diagnosis of Homozygous Familial Hypercholesterolemia (HoFH) is based on a family history of elevated cholesterol, persistent high LDL levels despite maximum medical treatment and the development of xanthomas and early atherosclerotic cardiac lesions such as aortic stenosis. Management of HoFH patients requires lifestyle modifications and medical therapy
| Published in | American Journal of Internal Medicine (Volume 2, Issue 2) |
| DOI | 10.11648/j.ajim.20140202.15 |
| Page(s) | 34-40 |
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Familial Hypercholesterolemia (FH), Homozygous Familial Hypercholesterolemia (HoFH), Xanthomas, Genetic Disease
| [1] | Selvan JP, Uthaman B, Abushaban L, Jebaraj R. Homozygous familial hypercholesterolemia with generalized arterial disease. Med. Princ. Pract. 2007;16:75-78. |
| [2] | Mayuchi H, Tatami R, HabaT et al: Homozygous familial hypercholesterolaemia in Japan. AmerJMed1978;29:65. |
| [3] | Balachandran C, Parameshwara YR, Srinivas CR. Homozygous familial hypercholesterolaemia in an infant with cutaneous xanthomatosis, Indian J DermatolVenereolLeprol1990;56:336-337. |
| [4] | Rader DJ, Cohen J, Hobbs HH. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J. Clin. Invest. 2003; 111: 1795–803. |
| [5] | Mabuchi H. Hokuriku FH - CHD Study Group.Development of coronary heart disease in familial hypercholesterolemia 1989; 79: 225-232. |
| [6] | Motulsky AG. The genetic hyperlipidemias.NEngl J 1976; 294:823-827. |
| [7] | Marks D, Wonderling D, Thorogood M et al. Costeffectiveness analysis of different approaches of screening for familial hypercholesterolemia. British Medical Journal 2002; 324:1303-1309. |
| [8] | National Institute for Health and Clinical Excellence. Identification and management of familial hypercholesterolaemia. Clinical Guidance 71 2008. London: NICE 2008. |
| [9] | Catapano AL, Reiner Z, De Backer G et al. ESC/EAS Guidelines for the management of dyslipidaemias The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS). Atherosclerosis 2011;217:3–46. |
| [10] | Junyent M, Gilabert R, Zambon D et al.The use of achilles tendon sonography to distinguish familialhypercholesterolemia from other genetic dyslipidemias. Arteriosclerosis,Thrombosis, and Vascular Biology 2005; 25:2203-2208. |
| [11] | Celermajer DS, Sorensen KE, Gooch VM. Non-invasive detection of endothelial dysfunction in children and adults at risk of atherosclerosis. Lancet 1992;340:1111–15. |
| [12] | Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum. Mutat.1992;1:445–466. |
| [13] | Lindgren V, Luskey KL, Russell DW. Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. ProcNatlAcadSci USA 1985;82:8567–71. |
| [14] | Knott TJ, Rall SC Jr, Innerarity TL et al. Human apolipoprotein B: structure of carboxyl-terminal domains, sites of gene expression, and chromosomal localization. Science 1985;230:37–43. |
| [15] | Law SW, Lackner KJ, Hospattankar AV et al. Human apolipoprotein B-100: cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2. ProcNatlAcadSci U S A 1985;82:8340–4. |
| [16] | Shuster H. High risk/high priority: familial hypercholesterolemia – a paradigm for molecular medicine. Atherosclerosis Supplements 2002; 2:27-32. |
| [17] | Bambauer R, Schiel R, Latza R. Low-density lipoprotein apheresis: anoverview. Therapeutic Apheresis and Dialysis 2003; 7:382-390. |
| [18] | Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: The Metabolic and Molecular Bases of Inherited Disease. 7th Edition. Edited by CR Scriver, AL Beaudet, WS Sly and D Valle. McGraw-Hill: New York, 1995;1981-2030. |
| [19] | Myant NB. Cholesterol metabolism.JClinPathol Suppl1973;5:1-4. |
| [20] | Durrington P. Dyslipidaemia. Lancet 2003; 362: 717–31. |
| [21] | Regnstrom J, Nilsson J, Tornvall P. Susceptibility to low-density lipoprotein oxidation and coronary atherosclerosis in man. Lancet 1992;339:1183–6. |
| [22] | Libby P. Vascular biology of atherosclerosis: overview and state of the art. Am J Cardiol 2003;91:3A–6A. |
| [23] | A Gaddi, A Ciarrocchi, A Matteuccietal.Dietary treatment for familial hypercholesterolemia--differential effects of dietary soy protein according to the apolipoprotein E phenotypes.Am J ClinNutr. 1991;53:1191-6. |
| [24] | Shafiq N, Singh M, Kaur S et al. Dietary treatment for familial hypercholesterolaemia. Cochrane Database of Systematic Reviews 2010, Issue 1. |
| [25] | Daniels SR, Greer FR. Lipid screening and cardiovascular health in childhood. Pediatrics 2008;122:198-208. |
| [26] | Stancu C, SimaA.Statins: mechanism of action and effects.J Cell Mol Med. 2001;5:378-87. |
| [27] | Pocathikorn A, Taylor RR, MamotteCD.Atorvastatin increases expression of low-density lipoprotein receptor mRNA in human circulating mononuclear cells.ClinExpPharmacol Physiol. 2010;37:471-6. |
| [28] | SathasivamS.Statin induced myotoxicity.Eur J Intern Med. 2012 Jun;23:317-24. |
| [29] | Lebel C, Walker L, Leemans Al. Microstructural maturation of the human brain from childhood to adulthood. Neuroimage 2008;40:1044-1055. |
| [30] | Raal JR, Pilcher GJ, Illingworth DR. Expanded-dose simvastatin is effective in homozygous familial hypercholesterolemia. Atherosclerosis.1997;135:249–256. |
| [31] | Davidson MH.A systematic review of bile acid sequestrant therapy in children with familial hypercholesterolemia.JClinLipidol. 2011;5:76-81. |
| [32] | Tennet DM, Hashim SA, Van ItallieTB.Bile-acid sequestrants and lipid metabolism.Fed Proc. 1962;21:77-80. |
| [33] | Poleszak J, KorolkoA.Effect of long-term administration of clofibrate on the composition of blood lipids in atherosclerotic patients.PolTygLek. 1971;26:1106-9. |
| [34] | Bateson MC, Maclean D, Ross PE, BouchierIA.Clofibrate therapy and gallstone induction.Am J Dig Dis. 1978;23:623-8. |
| [35] | Phan BA, Dayspring TD, TothPP.Ezetimibe therapy: mechanism of action and clinical update.Vasc Health Risk Manag. 2012;8:415-27. |
| [36] | Nochioka K, Tanaka S, Miura M et al.Ezetimibe improves endothelial function and inhibits rho-kinase activity associated with inhibition of cholesterol absorption in humans.Circ J. 2012;76:2023-30. |
| [37] | Villines TC, Stanek EJ,Devine PJ et al. The arbiter 6-halts trial (arterial biology for the investigation of the treatment effects of reducing cholesterol 6-hdl and ldl treatment strategies in atherosclerosis): Final results and the impact of medication adherence, dose, and treatment duration. J Am CollCardiol. 2010;55:2721–2726. |
| [38] | Taylor AJ, Villines TC, Stanek EJ. Extended-release niacin or ezetimibe and carotid intima-media thickness. N Engl J Med 2009; 361:2113-22. |
| [39] | Heel RC, BrogdenRN,Speight TM, Avery GS. Probucol: a review of itspharmacologicalpropertiesand therapeutic use inpatientswithhypercholesterolaemia. Drugs1978;15:409-428. |
| [40] | Yamamoto A. A UniqeAntilipidemic Drug – Probucol. J.Atheroscler. Thromb.2008;15:304–5. |
| [41] | Inagaki M, Nakagawa-Toyama Y, Nishida M et al.Effect of Probucol on Antioxidant Properties of HDL in Patients with Heterozygous Familial Hypercholesterolemia.JAtherosclerThromb. 2012;19:643-56. |
| [42] | Favari E, Zanotti I, Zimetti F et al. Probucol inhibits ABCA1-mediated cellular lipid efflux. Arterioscler. Thromb. Vasc. Biol. 2004;24: 2345–50. |
| [43] | Yamamoto A, Matsuzawa Y, Kishino B et al. Effects of probucol on homozygous cases of familial hypercholesterolemia. Atherosclerosis. 1983;48:157–166. |
| [44] | Baker SG, Joffe BI, Mendelsohn D, Seftel HC. Treatment of homozygous familial hypercholesterolaemia with probucol. S. Afr.Med. J.1982;62:7–11. |
| [45] | ParhoferKG.Mipomersen: evidence-based review of its potential in the treatment of homozygous and severe heterozygous familial hypercholesterolemia.CoreEvid. 2012;7:29-38. |
| [46] | Bell DA, Hooper AJ, Burnett JR. Mipomersen, an antisense apolipoprotein B synthesis inhibitor. Expert OpinInvestig Drugs. 2011;20:265–272. |
| [47] | Cuchel M, Bloedon LT, Szapary PO et al. Inhibition of Microsomal Triglyceride Transfer Protein in Familial Hypercholesterolemia. New England Journal of Medicine 2007;356: 148–56. |
| [48] | Lefort B, Giraud C, Saulnier JPetal.Treatment of homozygous familial hypercholesterolemia with LDL-apheresis on a 4-year-old child.ArchPediatr. 2009;16:1554-8. |
| [49] | Bosch T.Practical aspects of direct adsorption of lipoproteins from whole blood by DALI LDL-apheresis.TransfusApher Sci. 2004;31:83-8. |
| [50] | Starzl TE, Bilheimer DW, Bahnson HT, et al. Heart-liver transplantation in a patient with familial hypercholesterolemia. Lancet. 1984;1:1382–1383. |
| [51] | CastillaCabezas JA, López-Cillero P, Jiménez J.Role of orthotopic liver transplant in the treatment of homozygous familial hypercholesterolemia.RevEspEnferm Dig 2000; 92:601-8. |
APA Style
Vinod Kumar Khurana, Raj Kumar Mehta, Kapil Chandra. (2014). Homozygous Familial Hypercholesterolemia: Case report and Review of Literature. American Journal of Internal Medicine, 2(2), 34-40. https://doi.org/10.11648/j.ajim.20140202.15
ACS Style
Vinod Kumar Khurana; Raj Kumar Mehta; Kapil Chandra. Homozygous Familial Hypercholesterolemia: Case report and Review of Literature. Am. J. Intern. Med. 2014, 2(2), 34-40. doi: 10.11648/j.ajim.20140202.15
AMA Style
Vinod Kumar Khurana, Raj Kumar Mehta, Kapil Chandra. Homozygous Familial Hypercholesterolemia: Case report and Review of Literature. Am J Intern Med. 2014;2(2):34-40. doi: 10.11648/j.ajim.20140202.15
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Download@article{10.11648/j.ajim.20140202.15,
author = {Vinod Kumar Khurana and Raj Kumar Mehta and Kapil Chandra},
title = {Homozygous Familial Hypercholesterolemia: Case report and Review of Literature},
journal = {American Journal of Internal Medicine},
volume = {2},
number = {2},
pages = {34-40},
doi = {10.11648/j.ajim.20140202.15},
url = {https://doi.org/10.11648/j.ajim.20140202.15},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajim.20140202.15},
abstract = {Familial hypercholesterolemia (FH) is a genetic disease presented by high levels of serum low density lipoprotein (LDL), xanthomas and early coronary artery disease (CAD). The diagnosis of Homozygous Familial Hypercholesterolemia (HoFH) is based on a family history of elevated cholesterol, persistent high LDL levels despite maximum medical treatment and the development of xanthomas and early atherosclerotic cardiac lesions such as aortic stenosis. Management of HoFH patients requires lifestyle modifications and medical therapy},
year = {2014}
}
TY - JOUR T1 - Homozygous Familial Hypercholesterolemia: Case report and Review of Literature AU - Vinod Kumar Khurana AU - Raj Kumar Mehta AU - Kapil Chandra Y1 - 2014/04/20 PY - 2014 N1 - https://doi.org/10.11648/j.ajim.20140202.15 DO - 10.11648/j.ajim.20140202.15 T2 - American Journal of Internal Medicine JF - American Journal of Internal Medicine JO - American Journal of Internal Medicine SP - 34 EP - 40 PB - Science Publishing Group SN - 2330-4324 UR - https://doi.org/10.11648/j.ajim.20140202.15 AB - Familial hypercholesterolemia (FH) is a genetic disease presented by high levels of serum low density lipoprotein (LDL), xanthomas and early coronary artery disease (CAD). The diagnosis of Homozygous Familial Hypercholesterolemia (HoFH) is based on a family history of elevated cholesterol, persistent high LDL levels despite maximum medical treatment and the development of xanthomas and early atherosclerotic cardiac lesions such as aortic stenosis. Management of HoFH patients requires lifestyle modifications and medical therapy VL - 2 IS - 2 ER -
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