2018, Número 5
<< Anterior Siguiente >>
Rev Invest Clin 2018; 70 (5)
Familial Combined Hyperlipidemia: Current Knowledge, Perspectives, and Controversies
Bello-Chavolla OY, Kuri-García A, Ríos-Ríos M, Vargas-VázquezA, Cortés-Arroyo JE, Tapia-González C, Cruz-Bautista I, Aguilar-Salinas CA
Idioma: Ingles.
Referencias bibliográficas: 76
Paginas: 224-236
Archivo PDF: 137.92 Kb.
RESUMEN
Sin resumen.
REFERENCIAS (EN ESTE ARTÍCULO)
Brouwers MC, van Greevenbroek MM, Stehouwer CD, de Graaf J, Stalenhoef AF. The genetics of familial combined hyperlipidaemia. Nat Rev Endocrinol. 2012;8:352-62.
van Greevenbroek MM, Stalenhoef AF, de Graaf J, Brouwers MC. Familial combined hyperlipidemia: from molecular insights to tailored therapy. Curr Opin Lipidol. 2014;25:176-82.
Mata P, Alonso R, Ruíz-Garcia A, et al. Familial combined hyperlipidemia: consensus document. Semergen. 2014;40:374-80.
Jacobson TA, Maki KC, Orringer CE, et al. National lipid association recommendations for patient-centered management of dyslipidemia: part 2. J Clin Lipidol. 2015;9:S1-122.e1.
Escobedo-de la Peña J, de Jesús-Pérez R, Schargrodsky H, Champagne B. Prevalence of dyslipidemias in Mexico city and its relation to other cardiovascular risk factors. Results from the CARMELA study. Gac Med Mex. 2014;150:128-36.
Skoumas I, Masoura C, Aznaouridis K, et al. Impact of cardiometabolic risk factors on major cardiovascular events in patients with familial combined hyperlipidemia. Circ J. 2013; 77:163-8.
Wierzbicki AS, Graham CA, Young IS, Nicholls DP. Familial combined hyperlipidaemia: Under - Defined and under - diagnosed? Curr Vasc Pharmacol. 2008;6:13-22.
Relimpio F, Losada F, Pumar A, et al. Relationships of apolipoprotein B(100) with the metabolic syndrome in Type 2 diabetes mellitus. Diabetes Res Clin Pract. 2002;57:199-207.
Sahebkar A, Watts GF. New therapies targeting apoB metabolism for high-risk patients with inherited dyslipidaemias: what can the clinician expect? Cardiovasc Drugs Ther. 2013;27:559-67.
Ripatti P, Rämö JT, Söderlund S. The contribution of GWAS loci in familial dyslipidemias. PLoS Genet. 2016;12:e1006078.
Brahm AJ, Hegele RA. Combined hyperlipidemia: familial but not (usually) monogenic. Curr opin Lipidol. 2016;27:131-40.
Ellis KL, Hooper AJ, Burnett JR, Watts GF. Progress in the care of common inherited atherogenic disorders of apolipoprotein B metabolism. Nat Rev Endocrinol. 2016;12:467-84.
Aguilar-Salinas CA, Tusie-Luna T, Pajukanta P. Genetic and environmental determinants of the susceptibility of Amerindian derived populations for having hypertriglyceridemia. Metabolism. 2014;63:887-94.
Sentinelli F, Minicocci I, Montali A, et al. Association of RXRgamma gene variants with familial combined hyperlipidemia: genotype and haplotype analysis. J Lipids. 2013;2013:517943.
Kurokawa R. Initiation of Transcription Generates Divergence of Long Noncoding RNA, Long Noncoding RNAs. Switzerland: Springer; 2015. p. 69-91.
Laurila PP, Soronen J, Kooijman S, et al. USF1 deficiency activates brown adipose tissue and improves cardiometabolic health. Sci Transl Med. 2016;8:323ra13.
Wang Y, Viscarra J, Kim SJ, Sul HS. Transcriptional regulation of hepatic lipogenesis. Nat Rev Mol Cell Biol. 2015;16:678-89.
Guo T, Mao Y, Li H, et al. Characterization of the gene expression profile of heterozygous liver-specific glucokinase knockout mice at a young age. Biomed Pharmacother. 2012;66:587-96.
Di Taranto MD, Staiano A, D’Agostino MN, et al. Association of USF1 and APOA5 polymorphisms with familial combined hyperlipidemia in an Italian population. Mol Cell Probes. 2015;29:19-24.
Auer S, Hahne P, Soyal SM, et al. Potential role of upstream stimulatory factor 1 gene variant in familial combined hyperlipidemia and related disorders. Arterioscler Thromb Vasc Biol. 2012;32:1535-44.
Berglund L, Brunzell JD, Goldberg AC, et al. Evaluation and treatment of hypertriglyceridemia: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2012;97:2969-89.
Minicocci I, Prisco C, Montali A, et al. Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): a reappraisal by using a resequencing approach. Atherosclerosis. 2015;242:618-24.
Tikka A, Jauhiainen M. The role of ANGPTL3 in controlling lipoprotein metabolism. Endocrine. 2016;52:187-93.
De Castro-Orós I, Cenarro A, Tejedor MT, et al. Common genetic variants contribute to primary hypertriglyceridemia without differences between familial combined hyperlipidemia and isolated hypertriglyceridemia. Circ Cardiovasc Genet. 2014;7:814-21.
Huertas-Vazquez A, Plaisier C, Weissglas-Volkov D, et al. TCF7L2 is associated with high serum triacylglycerol and differentially expressed in adipose tissue in families with familial combined hyperlipidaemia. Diabetologia. 2008;51:62-9.
Rosenthal EA, Ranchalis J, Crosslin DR, et al. Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. Am J Hum Genet. 2013; 93:1035-45.
Lapierre L, McLeod R. Regulation of hepatic production of lipoproteins containing apolipoprotein B by ER-associated degradation. Future Lipidol. 2007;2:173-84.
Morita SY. Metabolism and modification of apolipoprotein Bcontaining lipoproteins involved in dyslipidemia and atherosclerosis. Biol Pharm Bull. 2016;39:1-24.
Dewey FE, Gusarova V, Dunbar RL, et al. Genetic and pharmacologic inactivation of ANGPTL3 and cardiovascular disease. N Engl J Med. 2017;377:211-21.
Johansen RF, Søndergaard E, Sørensen LP, et al. Basal and insulin- regulated VLDL1 and VLDL2 kinetics in men with Type 2 diabetes. Diabetologia. 2016;59:833-43.
Lewis GF, Xiao C, Hegele RA. Hypertriglyceridemia in the genomic era: a new paradigm. Endocr Rev. 2015;36:131-47.
Ooi EM, Chan DC, Hodson L, et al. TG-rich lipoprotein metabolism in women: roles of apoC-II and apoC-III. Eur J Clin Invest. 2016;46:730-6.
Baila-Rueda L, Cenarro A, Lamiquiz-Moneo I, et al. Cholesterol over synthesis markers define familial combined hyperlipidemia versus other genetic hypercholesterolemias independently of body weight. J Nutr Biochem. 2017;53:48-57.
Cruz-Bautista I, Mehta R, Cabiedes J, et al. Determinants of VLDL composition and apoB-containing particles in familial combined hyperlipidemia. Clin Chim Acta. 2015;438:160-5.
Almeda-Valdes P, Cuevas-Ramos D, Mehta R, et al. Factors associated with postprandial lipemia and apolipoprotein A-V levels in individuals with familial combined hyperlipidemia. BMC Endocr Disord. 2014;14:90.
Klop B, Verseyden C, Ribalta J, et al. MTP gene polymorphisms and postprandial lipemia in familial combined hyperlipidemia: effects of treatment with atorvastatin. Clin Investig Arterioscler. 2014;26:49-57.
Roman TS, Marvelle AF, Fogarty MP, et al. Multiple hepatic regulatory variants at the GALNT2 GWAS locus associated with high-density lipoprotein cholesterol. Am J Hum Genet. 2015; 97:801-15.
Martinez-Hervas S, Artero A, Martinez-Ibañez J, et al. Increased thioredoxin levels are related to insulin resistance in familial combined hyperlipidaemia. Eur J Clin Invest. 2016;46:636-42.
Toutouzas K, Skoumas J, Koutagiar I, et al. Vascular inflammation and metabolic activity in hematopoietic organs and liver in familial combined hyperlipidemia and heterozygous familial hypercholesterolemia. J Clin Lipidol. 2018;12:33-43.
Brouwers MC, de Graaf J, van Greevenbroek MM et al. Novel drugs in familial combined hyperlipidemia: lessons from Type 2 diabetes mellitus. Curr Opin Lipidol. 2010;21:530-8.
Jiang ZG, de Boer IH, Mackey RH, et al. Associations of insulin resistance, inflammation and liver synthetic function with very low-density lipoprotein: the cardiovascular health study. Metabolism. 2016;65:92-9.
Conlon DM, Thomas T, Fedotova T, et al. Inhibition of apolipoprotein B synthesis stimulates endoplasmic reticulum autophagy that prevents steatosis. J Clin Invest. 2016;126:3852-67.
Castro Cabezas M. Postprandial lipaemia in familial combined hyperlipidaemia. Biochem Soc Trans. 2003;31:1090-3.
Dallinga-Thie GM, Kroon J, Borén J, Chapman MJ. TG-rich lipoproteins and remnants: targets for therapy? Curr Cardiol Rep. 2016;18:67.
Schlein C, Talukdar S, Heine M, et al. FGF21 lowers plasma triglycerides by accelerating lipoprotein catabolism in white and brown adipose tissues. Cell Metab. 2016;23:441-53.
Zeggini E1, Damcott CM, Hanson RL, et al. Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to Type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q. Diabetes. 2006;55:2541-8.
Brouwers MC, Bilderbeek-Beckers MA, Georgieva AM, et al. Fatty liver is an integral feature of familial combined hyperlipidaemia: relationship with fat distribution and plasma lipids. Clin Sci (Lond). 2007;112:123-30.
López-Velázquez JA, Silva-Vidal KV, Ponciano-Rodríguez G, et al. The prevalence of nonalcoholic fatty liver disease in the Americas. Ann Hepatol. 2014;13:166-78.
Wang Y, Wang BF, Tong J, Chang B, Wang BY. USF-1 genetic polymorphisms confer a high risk of nonalcoholic fatty liver disease in Chinese population. Int J Clin Exp Med. 2015;8: 2545-53.
Mehta R, Reyes-Rodríguez E, Yaxmehen Bello-Chavolla O, et al. Performance of LDL-C calculated with martin’s formula compared to the Friedewald equation in familial combined hyperlipidemia. Atherosclerosis. 2018; on line.
de Vries MA, Alipour A, Klop B, et al. Glucose-dependent leukocyte activation in patients with Type 2 diabetes mellitus, familial combined hyperlipidemia and healthy controls. Metabolism. 2015;64:213-7.
Alipour A, Valdivielso P, Elte JW, et al. Exploring the value of apoB48 as a marker for atherosclerosis in clinical practice. Eur J Clin Invest. 2012;42:702-8.
Fan YM, Hernesniemi J, Oksala N, et al. Upstream transcription factor 1 (USF1) allelic variants regulate lipoprotein metabolism in women and USF1 expression in atherosclerotic plaque. Sci Rep. 2014;4:4650.
Amor AJ, Ortega E, Perea V, et al. Relationship between total serum bilirubin levels and carotid and femoral atherosclerosis in familial dyslipidemia. Arterioscler Thromb Vasc Biol. 2017;37: 2356-63.
Averna M, Stroes E, Lipid Alterations Beyond LDL Expert Working Group. How to assess and manage cardiovascular risk associated with lipid alterations beyond LDL. Atheroscler Suppl. 2017;26:16-24.
Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European atherosclerosis society. Eur Heart J. 2013;34:3478-90a.
Catapano AL, Graham I, De Backer G, et al. 2016 ESC/EAS guidelines for the management of dyslipidaemias. Eur Heart J. 2016;37:2999-3058.
Kei AA, Filippatos TD, Tsimihodimos V, Elisaf MS. A review of the role of apolipoprotein C-II in lipoprotein metabolism and cardiovascular disease. Metabolism. 2012;61:906-21.
Mateo-Gallego R, Perez-Calahorra S, Cofán M, et al. Serum lipid responses to weight loss differ between overweight adults with familial hypercholesterolemia and those with familial combined hyperlipidemia. J Nutr. 2014;144:1219-26.
Martin SS, Abd TT, Jones SR, Michos ED, Blumenthal RS, Blaha MJ. 2013 ACC/AHA cholesterol treatment guideline: what was done well and what could be done better. J Am Coll Cardiol. 2014;63:2674-8.
Arca M, Montali A, Pigna G, et al. Comparison of atorvastatin versus fenofibrate in reaching lipid targets and influencing biomarkers of endothelial damage in patients with familial combined hyperlipidemia. Metabolism. 2007;56:1534-41.
Le NA, Diffenderfer MR, Thongtang N, et al. Rosuvastatin enhances the catabolism of LDL apoB-100 in subjects with combined hyperlipidemia in a dose dependent manner. Lipids. 2015; 50:447-58.
Thongtang N, Diffenderfer MR, Ooi EM, et al. Metabolism and proteomics of large and small dense LDL in combined hyperlipidemia: effects of rosuvastatin. J Lipid Res. 2017;58:1315-24.
Emerging Risk Factors Collaboration, Di Angelantonio E, Gao P, et al. Lipid-related markers and cardiovascular disease prediction. JAMA. 2012;307:2499-506.
Stone NJ, Robinson JG, Lichtenstein AH, et al. 2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: a report of the American college of cardiology/American heart association task force on practice guidelines. J Am Coll Cardiol. 2014;63: 2889-934.
Anderson TJ, Grégoire J, Hegele RA, et al. 2012 update of the Canadian cardiovascular society guidelines for the diagnosis and treatment of dyslipidemia for the prevention of cardiovascular disease in the adult. Can J Cardiol. 2013;29:151-67.
Sniderman AD, Williams K, Contois JH, et al. A meta-analysis of low-density lipoprotein cholesterol, non-high-density lipoprotein cholesterol, and apolipoprotein B as markers of cardiovascular risk. Circ Cardiovasc Qual Outcomes. 2011;4:337-45.
Cannon CP, Blazing MA, Giugliano RP, et al. Protocol-ezetimibe added to statin therapy after acute coronary syndromes. N Engl J Med. 2015;372:2387-97.
Banach M, Nikolic D, Rizzo M, Toth PP. IMPROVE-IT: what have we learned? Curr Opin Cardiol. 2016;31:426-33.
AlHajri L, AlHadhrami A, AlMheiri S, AlMutawa Y, AlHashimi Z. The efficacy of evolocumab in the management of hyperlipidemia: a systematic review. Ther Adv Cardiovasc Dis. 2017;11:155-69.
Adhyaru BB, Jacobson TA. Role of non-statins, LDL-C thresholds, and special population considerations: a look at the updated 2016 ACC consensus committee recommendations. Curr Atheroscler Rep. 2017;19:29.
Estruch R, Ros E, Salas-Salvadó J, et al. Primary prevention of cardiovascular disease with a Mediterranean diet. N Engl J Med. 2013;368:1279-90.
Akalin Çiftçi G, Ertorun İ, Akalin A, Alataş İÖ, Musmul A The effects of atorvastatin on antioxidant/antiinflammatory properties of HDLs in hypercholesterolemics. Turk J Med Sci. 2015;45:345-51.
Brandt EJ, Davidson MH. The role of omega-3 fatty acids in dyslipidemias. Combination Therapy in Dyslipidemias. New York, USA: Springer; 2015. p. 45-64.
Perk J, de Backer G, Gohlke H, et al. European Guidelines on cardiovascular disease pre-vention in clinical practice (version 2012). The fifth joint task force of the European society of cardiology and other societies on cardiovascular disease prevention in clinical practice (constituted by representatives of nine societies and by invited experts). Atherosclerosis. 2012;223:1-68.
Guo J, Meng F, Ma N, et al. Meta-analysis of safety of the coad ministration of statin with fen fibrate in patients with combined hyperlipidemia. Am J Cardiol. 2012;110:1296-301.