2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance

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art_CUCHEL_2023_Update_on_European_Atherosclerosis_Society_Consensus_Statement_2023.PDF (1.46 MB)
Citações na Scopus
59
Tipo de produção
article
Data de publicação
2023
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
OXFORD UNIV PRESS
Autores
CUCHEL, Marina
RAAL, Frederick J.
HEGELE, Robert A.
AL-RASADI, Khalid
ARCA, Marcello
AVERNA, Maurizio
BRUCKERT, Eric
FREIBERGER, Tomas
GAUDET, Daniel
HARADA-SHIBA, Mariko
Citação
EUROPEAN HEART JOURNAL, v.44, n.25, Special Issue, p.2277-2291, 2023
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
This 2023 statement updates clinical guidance for homozygous familial hypercholesterolaemia (HoFH), explains the genetic complexity, and provides pragmatic recommendations to address inequities in HoFH care worldwide. Key strengths include updated criteria for the clinical diagnosis of HoFH and the recommendation to prioritize phenotypic features over genotype. Thus, a low-density lipoprotein cholesterol (LDL-C) >10 mmol/L (>400 mg/dL) is suggestive of HoFH and warrants further evaluation. The statement also provides state-of-the art discussion and guidance to clinicians for interpreting the results of genetic testing and for family planning and pregnancy. Therapeutic decisions are based on the LDL-C level. Combination LDL-C-lowering therapy-both pharmacologic intervention and lipoprotein apheresis (LA)-is foundational. Addition of novel, efficacious therapies (i.e. inhibitors of proprotein convertase subtilisin/kexin type 9, followed by evinacumab and/or lomitapide) offers potential to attain LDL-C goal or reduce the need for LA. To improve HoFH care around the world, the statement recommends the creation of national screening programmes, education to improve awareness, and management guidelines that account for the local realities of care, including access to specialist centres, treatments, and cost. This updated statement provides guidance that is crucial to early diagnosis, better care, and improved cardiovascular health for patients with HoFH worldwide.
Palavras-chave
Homozygous familial hypercholesterolaemia, Clinical guidance, Diagnosis, Genetics, Treatment, Women
URI
https://observatorio.fm.usp.br/handle/OPI/54630
Referências
  1. Al Dubayee M, 2022, ADV THER, V39, P3042, DOI 10.1007/s12325-022-02131-3
  2. Alieva AS, 2020, ATHEROSCLEROSIS SUPP, V42, pE6, DOI 10.1016/j.atherosclerosissup.2021.01.002
  3. Alothman L, 2022, J CLIN LIPIDOL, V16, P52, DOI 10.1016/j.jacl.2021.11.014
  4. Amundsen AL, 2006, ATHEROSCLEROSIS, V189, P451, DOI 10.1016/j.atherosclerosis.2006.01.002
  5. [Anonymous], 2022, VERV THER
  6. Bajaj A, 2022, J ATHEROSCLER THROMB, V29, P1125, DOI 10.5551/jat.RV17065
  7. Bedlington Nicole, 2022, GMS Health Innov Technol, V16, pDoc04, DOI 10.3205/hta000136
  8. Beheshti SO, 2020, J AM COLL CARDIOL, V75, P2553, DOI 10.1016/j.jacc.2020.03.057
  9. Belanger AM, 2020, CURR OPIN LIPIDOL, V31, P176, DOI 10.1097/MOL.0000000000000686
  10. Berberich AJ, 2019, NAT REV CARDIOL, V16, P9, DOI 10.1038/s41569-018-0052-6
  11. Bertolini S, 2020, ATHEROSCLEROSIS, V312, P72, DOI 10.1016/j.atherosclerosis.2020.08.027
  12. Biesecker LG, 2021, ATHEROSCLEROSIS, V326, P63, DOI 10.1016/j.atherosclerosis.2021.03.015
  13. Bjorkhem I, 2013, CURR OPIN LIPIDOL, V24, P283, DOI 10.1097/MOL.0b013e328362df13
  14. Blom DJ, 2020, J AM COLL CARDIOL, V76, P131, DOI 10.1016/j.jacc.2020.05.027
  15. Blom DJ, 2017, CIRCULATION, V136, P332, DOI 10.1161/CIRCULATIONAHA.117.028208
  16. Brown EE, 2021, CURR OPIN LIPIDOL, V32, P83, DOI 10.1097/MOL.0000000000000732
  17. Brown EE, 2020, J CLIN LIPIDOL, V14, P398, DOI 10.1016/j.jacl.2020.04.011
  18. Bruckert E, 2014, ATHEROSCLEROSIS SUPP, V15, P46, DOI 10.1016/j.atherosclerosissup.2014.07.006
  19. Brunham LR, 2018, CAN J CARDIOL, V34, P1553, DOI 10.1016/j.cjca.2018.09.005
  20. Cephus CE, 2019, J CLIN LIPIDOL, V13, P880, DOI 10.1016/j.jacl.2019.09.007
  21. Cesaro A, 2022, HEART FAIL CLIN, V18, P177, DOI 10.1016/j.hfc.2021.07.008
  22. Cesaro A, 2020, EUR J PREV CARDIOL, V27, P556, DOI 10.1177/2047487319839179
  23. Chadwick AC, 2018, CIRCULATION, V137, P975, DOI 10.1161/CIRCULATIONAHA.117.031335
  24. Chora JR, 2022, GENET MED, V24, P293, DOI 10.1016/j.gim.2021.09.012
  25. Cuchel M, 2014, EUR HEART J, V35, P2146, DOI 10.1093/eurheartj/ehu274
  26. Cuchel M, 2013, LANCET, V381, P40, DOI 10.1016/S0140-6736(12)61731-0
  27. D'Erasmo L, 2022, EUR J PREV CARDIOL, V29, P832, DOI 10.1093/eurjpc/zwab229
  28. D'Erasmo L, 2021, ORPHANET J RARE DIS, V16, DOI 10.1186/s13023-021-01999-8
  29. D'Erasmo L, 2021, J AM HEART ASSOC, V10, DOI 10.1161/JAHA.120.018932
  30. D'Erasmo L, 2020, CURR OPIN LIPIDOL, V31, P56, DOI 10.1097/MOL.0000000000000664
  31. D'Erasmo L, 2017, ADV THER, V34, P1200, DOI 10.1007/s12325-017-0531-x
  32. Defesche JC, 2017, NAT REV DIS PRIMERS, V3, DOI 10.1038/nrdp.2017.93
  33. El-Rassi I, 2011, J CLIN LIPIDOL, V5, P329, DOI 10.1016/j.jacl.2011.05.002
  34. Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents, 2011, Pediatrics, V128 Suppl 5, pS213, DOI 10.1542/peds.2009-2107C
  35. France M, 2016, ATHEROSCLEROSIS, V255, P128, DOI 10.1016/j.atherosclerosis.2016.10.017
  36. Gaudet D., 2021, CIRCULATION, V144
  37. Gidding SS, 2022, EUR J PREV CARDIOL, V29, P2301, DOI 10.1093/eurjpc/zwac200
  38. Graham DF, 2021, CURR OPIN LIPIDOL, V32, P370, DOI 10.1097/MOL.0000000000000790
  39. Greco M, 2016, PEDIATRICS, V138, DOI 10.1542/peds.2016-0740
  40. Groselj U, 2022, EUR HEART J, V43, P3209, DOI 10.1093/eurheartj/ehac224
  41. Hansel B, 2014, ATHEROSCLEROSIS, V234, P162, DOI 10.1016/j.atherosclerosis.2014.02.030
  42. Harada-Shiba M, 2018, J ATHEROSCLER THROMB, V25, P751, DOI 10.5551/jat.CR003
  43. Hegele RA, 2020, LANCET DIABETES ENDO, V8, P50, DOI 10.1016/S2213-8587(19)30264-5
  44. Hu PW, 2020, CIRCULATION, V141, P1742, DOI 10.1161/CIRCULATIONAHA.119.044795
  45. Hussain MM, 2012, NUTR METAB, V9, DOI 10.1186/1743-7075-9-14
  46. Ibarretxe D, 2018, ATHEROSCLEROSIS, V278, P210, DOI 10.1016/j.atherosclerosis.2018.09.039
  47. Ibrahim M, 2012, J CARDIOVASC TRANSL, V5, P351, DOI 10.1007/s12265-011-9311-1
  48. Ishigaki Y, 2019, J ATHEROSCLER THROMB, V26, P121, DOI 10.5551/jat.RV17029
  49. Kayikcioglu M, 2019, J CLIN LIPIDOL, V13, P455, DOI 10.1016/j.jacl.2019.02.001
  50. Kayikcioglu M, 2018, ATHEROSCLEROSIS, V270, P42, DOI 10.1016/j.atherosclerosis.2018.01.034
  51. Kidambi S, 2008, J CLIN PATHOL, V61, P588, DOI 10.1136/jcp.2007.049775
  52. Klancar G, 2015, J AM COLL CARDIOL, V66, P1250, DOI 10.1016/j.jacc.2015.07.017
  53. Koyama S, 2021, J ATHEROSCLER THROMB, V28, P905, DOI 10.5551/jat.RV17055
  54. Kronenberg F, 2022, EUR HEART J, V43, P3925, DOI 10.1093/eurheartj/ehac361
  55. Kroon AA, 2000, ATHEROSCLEROSIS, V152, P519, DOI 10.1016/S0021-9150(00)00371-3
  56. Lazarte J, 2021, CURR OPIN LIPIDOL, V32, P81, DOI 10.1097/MOL.0000000000000738
  57. Luirink IK, 2019, ATHEROSCLEROSIS, V285, P87, DOI 10.1016/j.atherosclerosis.2019.04.219
  58. Mach F, 2019, ATHEROSCLEROSIS, V290, P140, DOI [10.1093/eurheartj/ehz455, 10.1016/j.atherosclerosis.2019.08.014]
  59. Martinez M, 2016, AM J CARDIOL, V118, P504, DOI 10.1016/j.amjcard.2016.05.042
  60. Mohamed F, 2021, CURR OPIN ENDOCRINOL, V28, P188, DOI 10.1097/MED.0000000000000590
  61. Mulder WCMJ, 2022, ATHEROSCLEROSIS, V348, P75, DOI 10.1016/j.atherosclerosis.2022.03.015
  62. Musunuru K, 2021, NATURE, V593, P429, DOI 10.1038/s41586-021-03534-y
  63. National Institute for Health and Care Excellence, 2022, FAM HYP ID MAN
  64. Ogura M, 2016, ATHEROSCLEROSIS, V254, P179, DOI 10.1016/j.atherosclerosis.2016.10.018
  65. Pottle A, 2019, ATHEROSCLEROSIS, V290, P44, DOI 10.1016/j.atherosclerosis.2019.09.006
  66. Raal FJ, 2021, CIRCULATION, V144
  67. Raal FJ, 2020, NEW ENGL J MED, V383, P711, DOI 10.1056/NEJMoa2004215
  68. Raal FJ, 2017, LANCET DIABETES ENDO, V5, P280, DOI 10.1016/S2213-8587(17)30044-X
  69. Raal FJ, 2015, LANCET, V385, P341, DOI 10.1016/S0140-6736(14)61374-X
  70. Ray KK, 2022, EUR HEART J, V43, P830, DOI 10.1093/eurheartj/ehab718
  71. Reijman MD, 2021, LANCET CHILD ADOLESC, V5, P652, DOI 10.1016/S2352-4642(21)00095-X
  72. REVELL SP, 1995, ARCH DIS CHILD, V73, P456, DOI 10.1136/adc.73.5.456
  73. Russi G, 2015, TRANSFUS APHER SCI, V53, P283, DOI 10.1016/j.transci.2015.11.008
  74. Salen G, 2004, CIRCULATION, V109, P966, DOI 10.1161/01.CIR.0000116766.31036.03
  75. Santos RD, 2020, J AM COLL CARDIOL, V75, P565, DOI 10.1016/j.jacc.2019.12.020
  76. Sarkies MN, 2022, NAT REV CARDIOL, V19, P3, DOI 10.1038/s41569-021-00645-x
  77. Schmidt HHJ, 2008, CLIN TRANSPLANT, V22, P180, DOI 10.1111/j.1399-0012.2007.00764.x
  78. Sjouke B, 2015, EUR HEART J, V36, P560, DOI 10.1093/eurheartj/ehu058
  79. Stefanutti C, 2017, J CLIN LIPIDOL, V11, P858, DOI 10.1016/j.jacl.2017.04.114
  80. Stein EA, 2013, CIRCULATION, V128, P2113, DOI 10.1161/CIRCULATIONAHA.113.004678
  81. Tada H, 2022, J ATHEROSCLER THROMB, V29, P953, DOI 10.5551/jat.63222
  82. Thompson GR, 2010, ATHEROSCLEROSIS, V208, P317, DOI 10.1016/j.atherosclerosis.2009.06.010
  83. Trinder M, 2020, CIRC-GENOM PRECIS ME, V13, P515, DOI 10.1161/CIRCGEN.120.002919
  84. Tromp TR, 2022, LANCET, V399, P719, DOI 10.1016/S0140-6736(21)02001-8
  85. US Food and Drug Administration, 2021, DRUG SAF COMM 7 20 2
  86. Vallejo-Vaz AJ, 2015, ATHEROSCLEROSIS, V243, P257, DOI 10.1016/j.atherosclerosis.2015.09.021
  87. Wang J, 2016, ARTERIOSCL THROM VAS, V36, P2439, DOI 10.1161/ATVBAHA.116.308027
  88. Watts GF, 2021, HEART LUNG CIRC, V30, P324, DOI 10.1016/j.hlc.2020.09.943
  89. Watts GF, 2020, NAT REV CARDIOL, V17, P360, DOI 10.1038/s41569-019-0325-8
  90. Watts GF, 2014, INT J CARDIOL, V171, P309, DOI 10.1016/j.ijcard.2013.11.025
  91. Wiegman A, 2015, EUR HEART J, V36, P2425, DOI 10.1093/eurheartj/ehv157
  92. Wilemon KA, 2020, JAMA CARDIOL, V5, P217, DOI 10.1001/jamacardio.2019.5173

Coleções
Artigos e Materiais de Revistas Científicas - FM/MCP
Artigos e Materiais de Revistas Científicas - HC/InCor
Artigos e Materiais de Revistas Científicas - ODS/03