Статья

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

Marina CuchelDivision 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 , USAFrederick J. RaalCarbohydrate and Lipid Metabolism Research Unit, Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Health Sciences, University of the Witwatersrand Parktown , Johannesburg , South AfricaRobert A. HegeleDepartment of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University , London, Ontario , CanadaKhalid Al‐RasadiDepartment of Biochemistry, College of Medicine & Health Sciences, Medical Research Center, Sultan Qaboos University , Muscat , OmanMarcello ArcaDepartment of Translational and Precision Medicine, Sapienza University of Rome , Rome , ItalyMaurizio AvernaDepartment of Health Promotion Sciences Maternal and Infantile Care, Internal Medicine and Medical Specialities, University of Palermo , Palermo , ItalyÉric BruckertPitié-Salpêtrière Hospital and Sorbonne University, Cardio metabolic Institute , Paris , FranceTomáš FreibergerCentre for Cardiovascular Surgery and Transplantation, and Medical Faculty, Masaryk University , Brno , Czech RepublicDaniel GaudetClinical 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 , CanadaMariko Harada‐ShibaCardiovascular Center, Osaka Medical and Pharmaceutical University , Osaka , JapanLisa C. HudginsRogosin Institute, Weill Cornell Medical College , New York, NY , USAMeral KayıkçıoğluDepartment of Cardiology, Faculty of Medicine, Ege University , Izmir , TurkeyL. MasanaVascular Medicine and Metabolism Unit, Research Unit on Lipids and Atherosclerosis, Sant Joan University Hospital, Universitat Rovira i Virgili, IISPV CIBERDEM , Reus , SpainKlaus G. ParhoferMedizinische Klinik und Poliklinik IV, Ludwigs-Maximilians University Klinikum , Munich , GermanyJeanine E. Roeters van LennepDepartment of Internal Medicine, Erasmus MC, Medical Center , Rotterdam , The NetherlandsRaúl D. SantosAcademic Research Organization Hospital Israelita Albert Einstein , Sao Paulo , BrazilErik S.G. StroesDepartment of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, University of Amsterdam , Amsterdam , The NetherlandsGerald F. WattsMedical School, University of Western Australia, and Department of Cardiology, Lipid Disorders Clinic, Royal Perth Hospital , Perth , AustraliaAlbert WiegmanDepartment of Pediatrics, Amsterdam University Medical Centers, University of Amsterdam , Amsterdam , The NetherlandsJane K. StockEuropean Atherosclerosis Society , Gothenburg , SwedenLâle TokgözoğluDepartment of Cardiology, Hacettepe University Faculty of Medicine , Ankara , TurkeyAlberico L. CatapanoIRCCS MultiMedica, and Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano , Milan , ItalyKausik K. RayImperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, School of Public Health, Imperial College London , London , UK

2023en

ABI

Аннотация

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.

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Идентификаторы

DOI: 10.1093/eurheartj/ehad197

Цитирования и источники

Цитирований: 2Использованных источников: 0

Показатели — AkademScholar