Autor según el artículo: Cuchel, M; Raal, FJ; Hegele, RA; Al-Rasadi, K; Arca, M; Averna, M; Bruckert, E; Freiberger, T; Gaudet, D; Harada-Shiba, M; Hudgins, LC; Kayikcioglu, M; Masana, L; Parhofer, KG; van Lennep, JER; Santos, RD; Stroes, ESG; Watts, GF; Wiegman, A; Stock, JK; Tokgözoglu, LS; Catapano, AL; Ray, KK
Departamento: Medicina i Cirurgia
Autor/es de la URV: Masana Marín, Luis
Palabras clave: Women Treatment Transfer protein inhibitor Homozygous familial hypercholesterolaemia Genetics Diagnosis Clinical guidance women treatment open-label liver-transplantation lipoprotein apheresis life ldl-apheresis integrated guidance genetics experience evolocumab efficacy diagnosis clinical guidance
Resumen: 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.© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.
Áreas temáticas: Saúde coletiva Nutrição Medicina iii Medicina ii Medicina i Interdisciplinar General medicine Farmacia Educação física Direito Ciências biológicas ii Ciências biológicas i Cardiology and cardiovascular medicine Cardiac & cardiovascular systems
Acceso a la licencia de uso: https://creativecommons.org/licenses/by/3.0/es/
Direcció de correo del autor: luis.masana@urv.cat
Identificador del autor: 0000-0002-0789-4954
Fecha de alta del registro: 2024-08-03
Versión del articulo depositado: info:eu-repo/semantics/publishedVersion
Enlace a la fuente original: https://academic.oup.com/eurheartj/advance-article/doi/10.1093/eurheartj/ehad197/7148157
URL Documento de licencia: https://repositori.urv.cat/ca/proteccio-de-dades/
Referencia al articulo segun fuente origial: European Heart Journal. 44 (25): 2277-2291
Referencia de l'ítem segons les normes APA: Cuchel, M; Raal, FJ; Hegele, RA; Al-Rasadi, K; Arca, M; Averna, M; Bruckert, E; Freiberger, T; Gaudet, D; Harada-Shiba, M; Hudgins, LC; Kayikcioglu, M (2023). 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. European Heart Journal, 44(25), 2277-2291. DOI: 10.1093/eurheartj/ehad197
DOI del artículo: 10.1093/eurheartj/ehad197
Entidad: Universitat Rovira i Virgili
Año de publicación de la revista: 2023
Tipo de publicación: Journal Publications