Dislipemias; Dislipoproteinemias, Hipercolesterolemia familiar; Hiperlipidemia familiar combinada;Infarto agudo de miocardio; Síndrome coronario agudo

Kersten S. The Genetics of Dyslipidemia- When Less Is More. N Engl J Med. 2016; 374:1192-93. DOI: 10.1056/NEJMe1601117

Sharifi M, Higginson E, Bos S, Gallivan A, Harvey D, Li KW, et al. Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia. Atherosclerosis. 2017; 263: 405–11. DOI: http://dx.doi.org/10.1016/j.atherosclerosis.2017.05.015

Bucholz EM, Rodday AM, Kolor K, Khoury MJ, de Ferranti SD. Prevalence and predictors of cholesterol screening, awareness, and statin treatment among US adults with familial hypercholesterolemia or other forms of severe dyslipidemia (1999–2014). Circulation. 2018; 137: 00–00. DOI: 10.1161/CIRCULATIONAHA.117.032321

Garg A, Garg V, Hegele RA, Lewis GF. Practical definitions of severe versus familial hypercholesterolaemia and hypertriglyceridaemia for adult clinical practice. Lancet Diab Endocrinol. 2019; 7(11): 880-86. DOI: http://dx.doi.org/10.1016/S2213-8587(19)30156-1

Benn M, Watts GF, Tybjærg-Hansen A, Nordestgaard BG. Mutations causative of familial hypercholesterolaemia: screening of 98 098 in dividuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Eur Heart J. 2016; 37:1384–94. DOI: 10.1093/eurheartj/ehw028

Pereira E, Ferreira R, Hermelin B, Thomas G, Bernard C, Nassiff H, et al. Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. Hum Genet. 1995[citado 22 may 2020];96(3):319-22.

Akioyamen LE, Genest J, Shan SD, Reel RL, Albaum JM, Chu A, et al. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. BMJ Open. 2017;7: 161-69. DOI:10.1136/bmjopen-2017-016461

Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, 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; 34:3478–90. DOI:10.1093/eurheartj/eht273

Pérez de Isla L, Alonso R, Mata N, Fernández-Pérez C, Muñiz O, Díaz-Díaz JL, et al. Predicting Cardiovascular Events in Familial Hypercholesterolemia. The SAFEHEART Registry (Spanish Familial Hypercholesterolemia Cohort Study). Circulation. 2017; 135:2133-44. DOI: doi: 10.1161/CIRCULATIONAHA.116.024541.

Rosso A, Pitini E, Andrea ED, Massimi A, De Vito C, Marzuillo C, et al. The cost-effectiveness of screening for familial hypercholesterolemia: a systematic rewiew. Ann Ig. 2017; 29: 464-80. DOI: 10.7416/ai.2017.2178

Vallejo-Vaz AJ, De Marcoa M, Stevens CAT, Akramb A, FreibergerT, Hovinghe GK, et al. Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Atherosclerosis. 2018; 277: 234–55. DOI: https://doi.org/10.1016/j.atherosclerosis.2018.08.051

Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, et al. Clinical genetic testing for familial hypercholesterolemia. JACC Scientific Expert Panel. J Am Col Cardiol. 2018; 72: 662 – 80. DOI: https://doi.org/10.1016/j.jacc.2018.05.044

Aguilar-Salinas CA, Gómez-Díaz R, Tusió e-Luna MT. Fifty years studying hiperlipidemias: the case of familial combined hiperlipidemia. Invest. Clin. 2010[citado 22 may 2020] ; 51( 2 ): 145-158. Disponible en: http://ve.scielo.org/scielo.php?script=sci_arttext&pid=S0535-51332010000200002&lng=es.

Bello-Chavolla OY, Kuri-García A, Ríos-Ríos M, Vargas-Vázquez, Cortés-Arroyo JE, Tapia-González G, et al. Familial Combined Hyperlipidemia: Current Knowledge, Perspectives, and Controversies. Rev Invest Clin. 2018; 70:224-36. DOI: 10.24875/RIC.18002575

Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest. 1973; 52:1544–68. DOI: 10.1172/JCI107332

Sniderman AD, de Graaf A, Thanassoulis G, Tremblay AJ, Martin SS, Couture P, et al. The spectrum of type III hyperlipoproteinemia. J Clin Lipidol. 2018; 12:1-7. DOI: https://doi.org/10.1016/j.jacl.2018.09.006

Besseling J, Kindt I, Hof M, Kastelein JJP, Hutten BA, Hovingh GK. Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: A study of a cohort of 14,000 mutation carriers. Atherosclerosis 2014; 233: 219-23. DOI: http://dx.doi.org/10.1016/j.atherosclerosis.2013.12.020

Nanchen D, Gencer B, Auer R, Raber L, Stefanini GG, Klingenberg R. Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes. Eur Heart J. 2015; 36: 2438-45. DOI: doi:10.1093/eurheartj/ehv289

Auckle R, Su B, Li H, Xu S, XieM, Song Y. Familial hypercholesterolemia in Chinese patients with premature ST-segment-elevation myocardial infarction: Prevalence, lipid management and 1-year follow-up. PLoS ONE. 2017; 12: e0186815. DOI: https://doi.org/10.1371/journal.pone.0186815

Nanchen D, Gencer B, Muller O, Auer R, Aghlmandi S, Heg D. Prognosis of patients with familial hypercholesterolemia after acute coronary syndromes. Circulation. 2016; 134:698–709. DOI: DOI: 10.1161/CIRCULATIONAHA.116.023007

Amor-Salamanca A, Castillo S, Gonzalez-Vioque E, Dominguez F, Quintana L, Ganella L, et al. Genetically Confirmed Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome. J Am Coll Cardiol. 2017; 70:1732–1740. DOI: 10.1016/j.jacc.2017.08.009.

Rallidis LS, Kosmas N, Tsirebolos G, Rallidi M, Kiouri E, Kalpakos D. Prevalence of heterozygous familial hypercholesterolemia and combined hyperlipidemia phenotype in very young survivors of myocardial infarction and their association with the severity of atheromatous burden. J Clin Lipidol. 2019;13(3):502-08. DOI: https://doi.org/10.1016/j.jacl.2019.02.007

De Backer G, Besseling J, Chapman J, Hovingh GK, Kastelein JJ, Kotseva K, et al. Prevalence and management of familial hypercholesterolaemia in coronary patients: An analysis of EUROASPIRE IV, a study of the European Society of Cardiology. Atherosclerosis. 2015; 241:169-75. DOI: http://dx.doi.org/10.1016/j.atherosclerosis.2015.04.809

Behesht SO, Madsen CM, Varbo A, Nordestgaard BG. Worldwide Prevalence of Familial Hypercholesterolemia. Meta-Analyses of 11 Million Subjects. J Am Coll Cardiol. 2020;75(20):2553-66. DOI: 10.1016/j.jacc.2020.03.057

Al-Rasadi K, Al-Zakwani I, Alsheikh-Ali AA, Almahmeed W, Rashed W, Ridha M, Santos RD, et al. Prevalence, management and outcomes of familial hypercholesterolemia in patients with acute coronary syndromes in the Arabian Gulf. J Clin Lipidol. 2018; 134-41. DOI: https://doi.org/10.1016/j.jacl.2018.02.003

Farnier M, Salignon-Vernay C, Yao H, Chague F, Brunel P, Maza M, et al. Prevalence, risk factor burden, and severity of coronary artery disease in patients with heterozygous familial hypercholesterolemia hospitalized for an acute myocardial infarction: Data from the French RICO survey. J Clin Lipidol. 2019; 13: 1-7. DOI: https://doi.org/10.1016/j.jacl.2019.06.005

Sawhney JPS, Ranjan S, Sharma M, Madan K, Mohanty A, Passey R, et al. Prevalence of familial hypercholesterolemia in premature coronary artery disease patients admitted to a tertiary care hospital in North India. Ind Heart J. 2019; 71(2): 118-22.. DOI: https://doi.org/10.1016/j.ihj.2018.12.004

Do R, Stitziel NO, Won HH. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015; 518:102–06. DOI: 10.1038/nature13917.

Lee C, Cui Y, Song J, Li S, Zhang F, Wu M, et al. Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction. Lip Health Dis. 2019; 18:95. DOI: 10.1186/s12944-019-1042-3.

Cui Y, Li S, Zhang F, Song J, Lee C, Wu M, Chen H. Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction. Clin Cardiol. 2019;42:385–90. DOI: 10.1002/clc.23154

Bogsrud MP, Øyri LKL, Halvorsen S, Atar D, Leren TP, Holven KB. Prevalence of genetically verified familial hypercholesterolemia among young (<45 years) Norwegian patients hospitalized with acute myocardial infarction. J Clin Lipidol. 2020;14(3):339-45.

DOI:https://doi.org/10.1016/j.jacl.2020.04.002

Kramer AI, Trinder M, Brunham LR. Estimating the prevalence of familial hypercholesterolemia in acute coronary syndrome: a systematic review and meta-analysis. Can J Card. 2019 Can J Cardiol. 2019;35(10):1322-31. DOI: https://doi.org/10.1016/j.cjca.2019.06.017

Khera AV, Won HH, Peloso GM, Lawson KS, Bartz TM, Deng X, et al. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J Am Coll Cardiol 2016; 67:2578-89. DOI: 10.1016/j.jacc.2016.03.520.

Luijtena J, van Greevenbroekb MMJ, Schaper NC, Meexd SJR, van der Steena C, Meijer LJ, et al. Incidence of cardiovascular disease in familial combined hyperlipidemia: A 15-year follow-up study. Atherosclerosis 2019; 280: 1–6. DOI: https://doi.org/10.1016/j.atherosclerosis.2018.11.013

Wiesbauer F, Blessberger H, Azar D, Goliasch G, Wagner O, Gerhold L, et al. Familial-combined hyperlipidaemia in very young myocardial infarction survivors (< or=40 years of age). Eur Heart J. 2009; 30:1073-79. DOI: doi:10.1093/eurheartj/ehp051

Goldstein JL, Hazzard WR, Schrott HG, Bierman EL. Hyperlipidemia in coronary heart disease. Lipid levels in 500 survivors of myocardial infarction. J Clin Invest. 1973; 52: 1573-43. DOI: 10.1172/JCI107331

Koopal C, Retterstol K, Sjouke B, et al. Vascular risk factors, vascular disease, lipids and lipid targets in patients with familial dysbetalipoproteinemia: a European cross-sectional study. Atherosclerosis. 2015; 240(1):90–97. DOI: 10.1016/j.atherosclerosis.2015.02.046

Al-Rasadi K, Al-Zakwani I. Use of Cardiovascular Risk Scores in Acute Coronary Syndrome Patients with Familial Hypercholesterolemia. J Clin Lipidol. 2018; doi: 10.1016/j.jacl.2018.07.001. DOI: 10.1016/j.jacl.2018.07.001

Barroso I, Bosch JR, Rodríguez VR, Celorrio R, Peña Y. Caracterización de pacientes menores de 65 años con infarto agudo del miocardio en terapia intensiva. Rev Cub Cardi Cir Cardiov. 2019[citado 22 feb 2020]; 25(4). Disponible en: http://www.revcardiologia.sld.cu/index.php/revcardiologia/article/view/854/pdf_1

Estévez Rubido Y, Cairo Sáez G, Quintero Valdivié I, Pérez Rodríguez RM, González López D. Infarto agudo de miocardio en pacientes menores de 50 años en el Hospital Arnaldo Milián Castro. Rev Cubana Cardiol. 2018[citado 22 feb 2020];; 24(1). http://www.revcardiologia.sld.cu/index.php/revcardiologia/article/view/732/pdf_117

Martín RA, García EA, Peña S. Caracterización del infarto agudo de miocardio en pacientes entre 45 y 59 años de edad. Rev Cub Cardi Cir Cardiov. 2019[citado 22 feb 2020];; 25(4). Disponible en: http://www.revcardiologia.sld.cu/index.php/revcardiologia/article/view/853/pdf