ABC | Volume 111, Nº4, Octuber 2018

Original Article Silva et al Predictors of family enrollment Arq Bras Cardiol. 2018; 111(4):578-584 1. Santos RD, Gidding SS, Hegele RA, Cuchel MA, Barter PJ, Watts GF, et al. Defining severe familial hypercholesterolaemia and the implications for clinical management : a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Lancet Diabetes Endocrinol. 2016;4(10):850-61. 2. Silva P, Jannes CE,Marsiglia JDC, Krieger JE, Santos RD, Pereira AC. Predictors of cardiovascular events after one year of molecular screening for Familial hypercholesterolemia. Atherosclerosis. 2016 Jul;250:144–50. 3. 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. Eur Heart J. 2013;34(45):3478–90a. 4. Pajak A, Szafraniec K, Polak M, Drygas W, Piotrowski W, Zdrojewski T, et al. Prevalence of familial hypercholesterolemia: A meta-analysis of six large, observational, population-based studies in Poland. Arch Med Sci. 2016;12(4):687–96. 5. Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab. 2012;97(11):3956–64. 6. Santos RD, Gagliardi AC, Xavier HT, Casella Filho A, Araujo DB, Cesena FY, et al. [First BrazilianGuidelines for Familial Hypercholesterolemia]. Arq Bras Cardiol. 2012;99(2 Suppl 2):1–28. 7. Brautbar A, Leary E, Rasmussen K, WilsonDP, Steiner RD, Virani S. Genetics of familial hypercholesterolemia. Curr Atheroscler Rep. 2015;17(4):491. 8. Khera A V, 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(22):2578–89. 9. Santos RD, Bourbon M, Alonso R, Cuevas A, Vásquez-Cárdenas A, Pereira AC, et al. Clinical andmolecular aspects of familial hypercholesterolemia in Ibero-American countries. J Clin Lipidol. 2016;11(1):160–6. 10. HendersonR,O’KaneM,McGilliganV,WattersonS.Thegeneticsandscreening of familial hypercholesterolaemia. J Biomed Sci. 2016 Apr 16;23:39. 11. Kerr M, Pears R, Miedzybrodzka Z, Haralambos K, Cather M, Watson M, et al. Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK. Eur Heart J. 2017;38(23):1832–9. 12. Lázaro P, Pérez de Isla L, Watts GF, Alonso R, Norman R, Muñiz O, et al. Cost-effectiveness of a cascade screening program for the early detection of familial hypercholesterolemia. J Clin Lipidol. 2017;11(1):260–71. 13. Jannes CE, Santos RD, de Souza Silva PR, Turolla L, Gagliardi ACM, Marsiglia JDC, et al. Familial hypercholesterolemia in Brazil: Cascade screening program, clinical and genetic aspects. Atherosclerosis. 2015;238(1):101–7. 14. Bell DA, Pang J, Burrows S, Bates TR, van Bockxmeer FM, Hooper AJ, et al. Effectivenessofgeneticcascadescreening for familialhypercholesterolaemia using a centrally co-ordinated clinical service: an Australian experience. Atherosclerosis. 2015;239(1):93–100. 15. Hallowell N, Jenkins N, Douglas M, Walker S, Finnie R, Porteous M, et al. Patients’ experiences and views of cascade screening for familial hypercholesterolemia (FH): A qualitative study. J Community Genet. 2011;2(4):249–57. 16. National Institute for Health and Clinical Excellence (NICE). Familial Hypercholesterolaemia – Costing Report: Implementing NICE guidance. London;2009. p.1-42. 17. Finnie RM. Cascade screening for familial hypercholesterolaemia in Scotland. Br J Diabetes Vasc Dis. 2010;10(3):123-5. 18. Neal WA, Knowles J, Wilemon K. Underutilization of cascade screening for familial hypercholesterolemia. Clin Lipidol. 2014;9(3):291–3. 19. Hardcastle SJ, Legge E, Laundy CS, Egan SJ, French R,Watts GF, et al. Patients’ perceptions and experiences of familial hypercholesterolemia, cascade genetic screening and treatment. Int J Behav Med. 2015;22(1):92-100. 20. Watts GF, Sullivan DR, Poplawski N, van Bockxmeer F, Hamilton-Craig I, Clifton PM, et al. Familial hypercholesterolaemia: A model of care for Australasia. Atheroscler Suppl. 2011;12(2):221–63. 21. NewsonAJ,HumphriesSE.Cascadetesting infamilialhypercholesterolaemia: how should family members be contacted? Eur J Hum Genet. 2005;13(4):401–8. 22. Umans-Eckenhausen MAW, Defesche JC, Sijbrands EJG, Scheerder RLJM, Kastelein JJP. Review of first 5 years of screening for familial hypercholesterolaemia in theNetherlands. Lancet. 2001;357(9251):165–8. References Sources of Funding This study was funded by Hospital Samaritano and Mi n i s t é r i o da Saúde ( PROADI - SUS , S I PAR 25000.180.672/2011-81). Study Association This study is not associatedwith any thesis or dissertationwork. Ethics approval and consent to participate This study was approved by the Ethics Committee of the Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo under the protocol CAPPesq 3757/12/013. All the procedures in this study were in accordance with the 1975 Helsinki Declaration, updated in 2013. Informed consent was obtained from all participants included in the study. 583

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