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

M. Cuchel, FJ. Raal, RA. Hegele, K. Al-Rasadi, M. Arca, M. Averna, E. Bruckert, T. Freiberger, D. Gaudet, M. Harada-Shiba, LC. Hudgins, M. Kayikcioglu, L. Masana, KG. Parhofer, JE. Roeters van Lennep, RD. Santos, ESG. Stroes, GF. Watts, A....

. 2023 ; 44 (25) : 2277-2291. [pub] 2023Jul01

Jazyk angličtina Země Anglie, Velká Británie

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc23017005

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.

Academic Research Organization Hospital Israelita Albert Einstein Sao Paulo Brazil

Carbohydrate and Lipid Metabolism Research Unit Division of Endocrinology and Metabolism Department of Medicine Faculty of Health Sciences University of the Witwatersrand Parktown Johannesburg South Africa

Cardiovascular Center Osaka Medical and Pharmaceutical University Osaka Japan

Centre for Cardiovascular Surgery and Transplantation and Medical Faculty Masaryk University Brno Czech Republic

Clinical Lipidology and Rare Lipid Disorders Unit Community Genomic Medicine Center Department of Medicine Université de Montréal ECOGENE Clinical and Translational Research Center and Lipid Clinic Chicoutimi Hospital Chicoutimi Québec Canada

Department of Biochemistry College of Medicine and Health Sciences Medical Research Center Sultan Qaboos University Muscat Oman

Department of Cardiology Faculty of Medicine Ege University Izmir Turkey

Department of Cardiology Hacettepe University Faculty of Medicine Ankara Turkey

Department of Health Promotion Sciences Maternal and Infantile Care Internal Medicine and Medical Specialities University of Palermo Palermo Italy

Department of Internal Medicine Erasmus MC Medical Center Rotterdam The Netherlands

Department of Medicine and Robarts Research Institute Schulich School of Medicine and Dentistry Western University London Ontario Canada

Department of Pediatrics Amsterdam University Medical Centers University of Amsterdam Amsterdam The Netherlands

Department of Translational and Precision Medicine Sapienza University of Rome Rome Italy

Department of Vascular Medicine Amsterdam Cardiovascular Sciences Amsterdam University Medical Centers University of Amsterdam Amsterdam The Netherlands

Division of Translational Medicine and Human Genetics Department of Medicine Perelman School of Medicine University of Pennsylvania 9017 Maloney Building 3600 Spruce Street Philadelphia PA 19104 USA

European Atherosclerosis Society Gothenburg Sweden

Imperial Centre for Cardiovascular Disease Prevention Department of Primary Care and Public Health School of Public Health Imperial College London London UK

IRCCS MultiMedica and Department of Pharmacological and Biomolecular Sciences Università degli Studi di Milano Milan Italy

Istituto di Biofisica Consiglio Nazionale delle Ricerche Genova Italy

Lipid Clinic Heart Institute University of São Paulo Medical School Hospital São Paulo Brazil

Medical School University of Western Australia and Department of Cardiology Lipid Disorders Clinic Royal Perth Hospital Perth Australia

Medizinische Klinik und Poliklinik 4 Ludwigs Maximilians University Klinikum Munich Germany

Pitié Salpêtrière Hospital and Sorbonne University Cardio metabolic Institute Paris France

Rogosin Institute Weill Cornell Medical College New York NY USA

Vascular Medicine and Metabolism Unit Research Unit on Lipids and Atherosclerosis Sant Joan University Hospital Universitat Rovira i Virgili IISPV CIBERDEM Reus Spain

Citace poskytuje Crossref.org

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