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2021, Número S3

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Cardiovasc Metab Sci 2021; 32 (S3)


Hipercolesterolemia primaria. Hipercolesterolemia familiar

Vázquez-Cárdenas NA
Texto completo Cómo citar este artículo 10.35366/100787

DOI

DOI: 10.35366/100787
URL: https://dx.doi.org/10.35366/100787

Idioma: Inglés [English version]
Referencias bibliográficas: 15
Paginas: s153-156
Archivo PDF: 290.49 Kb.


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REFERENCIAS (EN ESTE ARTÍCULO)

  1. Cardiovascular Diseases [Internet]. Who.int. [cited March 3, 2021]. Available in: https://www.who.int/health-topics/cardiovascular-diseases

  2. Sniderman AD, Tsimikas S, Fazio S. The severe hypercholesterolemia phenotype: clinical diagnosis, management, and emerging therapies. J Am Coll Cardiol. 2014; 63: 1935-1947.

  3. Alonso R, Perez de Isla L, Muñiz-Grijalvo O, Mata P. Bariers to early diagnosis and treatment of familial hypercholesterolemia: current perspectives on improving patient care. Vasc Health Risk Manag. 2020; 16: 11-25.

  4. Hu P, Dharmayat KI, Stevens CAT, Sharabiani MTA, Jones RS, Watts GF et al. Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: A systematic review and meta-analysis: a systematic review and meta-analysis. Circulation. 2020; 141: 1742-1759.

  5. World Health Organization. Familial hyperchcolesterolemia [FH]: report of a WHO consultation. Geneva, Switzerland: World Health Organization; 1998.

  6. 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 Coll Cardiol. 2018; 72 (6): 662-680.

  7. Leigh S, Futema M, Whittall R, Taylor-Beadling A, Williams M, den Dunnen JT et al. The UCL low-density lipoprotein receptor gene variant database: pathogenicity update. J Med Genet. 2017; 54 (4): 217-223.

  8. Chora JR, Medeiros AM, Alves AC, Bourbon M. Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis. Genet Med. 2018; 20: 591-598.

  9. 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): 850-861.

  10. Gidding SS. Managing patients with homozygous familial hypercholesterolemia. J Am Coll Cardiol. 2017; 70: 1171-1172.

  11. Watts GF, Gidding SS, Mata P, Pang J, Sullivan DR, Yamashita S et al. Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care. Nat Rev Cardiol. 2020; 17: 360-377.

  12. Raal FJ, Hovingh GK, Catapano AL. Familial hypercholesterolemia treatments: guidelines and new therapies. Atherosclerosis. 2018; 277: 483-492.

  13. Haralambos K, Ashfield-Watt P, McDowell IFW. Diagnostic scoring for familial hypercholesterolaemia in practice. Curr Opin Lipidol. 2016; 27: 367-374.

  14. Tada H, Okada H, Nomura A, Nohara A, Yamagishi M, Takamura M et al. Prognostic impact of cascade screening for familial hypercholesterolemia on cardiovascular events. J Clin Lipidol. 2021; 15: 358-365.

  15. Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science. 2001; 292: 1394-1398.




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Cardiovasc Metab Sci . 2021;32

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