Evidence map›Paper›PMID 37130090›Full record

ArticleEuropean heart journal2023

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

Marina Cuchel, Frederick J Raal, Robert A Hegele, Khalid Al-Rasadi, Marcello Arca, Maurizio Averna, Eric Bruckert, Tomas Freiberger, Daniel Gaudet, Mariko Harada-Shiba and 13 more

Abstract readConsensus Statement
In one paragraph

Article in European heart journal, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 150 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
150citing papers in PubMed, 6 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

150 citing papers in PubMed, 6 syntheses or guidelines pooled it.

  1. Guideline
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  15. Current and Future Perspectives of LDL-C Lowering Therapies 2026.Journal of atherosclerosis and thrombosis · 2026
    Review
  16. Is FH a curable disease?Global cardiology science & practice · 2026
    Article
  17. Review
  18. Review
  19. Article
  20. Article

90 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

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, USA.ORCID 0000-0001-6808-3824
Frederick 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 Africa.ORCID 0000-0002-9170-7938
Robert A HegeleDepartment of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.ORCID 0000-0003-2861-5325
Khalid Al-RasadiDepartment of Biochemistry, College of Medicine & Health Sciences, Medical Research Center, Sultan Qaboos University, Muscat, Oman.ORCID 0000-0003-0460-1236
Marcello ArcaDepartment of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.ORCID 0000-0003-3786-0883
Maurizio AvernaDepartment of Health Promotion Sciences Maternal and Infantile Care, Internal Medicine and Medical Specialities, University of Palermo, Palermo, Italy.ORCID 0000-0003-3558-9209
Eric BruckertPitié-Salpêtrière Hospital and Sorbonne University, Cardio metabolic Institute, Paris, France.
Tomas FreibergerCentre for Cardiovascular Surgery and Transplantation, and Medical Faculty, Masaryk University, Brno, Czech Republic.ORCID 0000-0001-6532-7053
Daniel 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, Canada.ORCID 0000-0002-5185-3666
Mariko Harada-ShibaCardiovascular Center, Osaka Medical and Pharmaceutical University, Osaka, Japan.ORCID 0000-0002-7600-2059
Lisa C HudginsRogosin Institute, Weill Cornell Medical College, New York, NY, USA.
Meral KayikciogluDepartment of Cardiology, Faculty of Medicine, Ege University, Izmir, Turkey.ORCID 0000-0003-3692-5227
Luis MasanaVascular Medicine and Metabolism Unit, Research Unit on Lipids and Atherosclerosis, Sant Joan University Hospital, Universitat Rovira i Virgili, IISPV CIBERDEM, Reus, Spain.ORCID 0000-0002-0789-4954
Klaus G ParhoferMedizinische Klinik und Poliklinik IV, Ludwigs-Maximilians University Klinikum, Munich, Germany.ORCID 0000-0001-9873-0412
Jeanine E Roeters van LennepDepartment of Internal Medicine, Erasmus MC, Medical Center, Rotterdam, The Netherlands.ORCID 0000-0001-6870-9962
Raul D SantosLipid Clinic, Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil.ORCID 0000-0002-9860-6582
Erik S G StroesDepartment of Vascular Medicine, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.ORCID 0000-0001-9555-6260
Gerald F WattsMedical School, University of Western Australia, and Department of Cardiology, Lipid Disorders Clinic, Royal Perth Hospital, Perth, Australia.
Albert WiegmanDepartment of Pediatrics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.ORCID 0000-0001-6223-5671
Jane K StockEuropean Atherosclerosis Society, Gothenburg, Sweden.
Lale S TokgözoğluDepartment of Cardiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alberico L CatapanoIRCCS MultiMedica, and Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Milan, Italy.ORCID 0000-0002-7593-2094
Kausik K RayImperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, UK.ORCID 0000-0003-0508-0954

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Anticholesteremic AgentsAtherosclerosisHomozygous Familial HypercholesterolemiaHyperlipoproteinemia Type IICholesterol, LDLHomozygoteHumansAnticholesteremic AgentsCholesterol, LDLClinical guidanceDiagnosisGeneticsHomozygous familial hypercholesterolaemiaTreatmentWomen

Identifiers

PMID37130090
PMCPMC10314327

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.