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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 HospitalTomáš FreibergerCentre for Cardiovascular Surgery and Transplantation, and Medical Faculty, Masaryk University , Brno , Czech RepublicDaniel GaudetUniversité de MontréalMariko Harada‐ShibaCardiovascular Center, Osaka Medical and Pharmaceutical University , Osaka , JapanLisa C. HudginsThe Rogosin InstituteMeral 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. ParhoferLudwig-Maximilians-Universität MünchenJeanine E. Roeters van LennepDepartment of Internal Medicine, Erasmus MC, Medical Center , Rotterdam , The NetherlandsRaúl D. SantosLipid Clinic, Heart Institute (InCor), University of São Paulo Medical School Hospital , São Paulo , BrazilErik S.G. StroesDepartment of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, University of Amsterdam , Amsterdam , The NetherlandsGerald F. WattsRoyal Perth HospitalAlbert WiegmanUniversity of AmsterdamJane K. StockEuropean Atherosclerosis Society , Gothenburg , SwedenLâle TokgözoğluDepartment of Cardiology, Hacettepe University Faculty of Medicine , Ankara , TurkeyAlberico L. CatapanoIstituti di Ricovero e Cura a Carattere ScientificoKausik 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

Annotatsiya

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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DOI: 10.1093/eurheartj/ehad197

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