2023 update on European Atherosclerosis Society Consensus statement on homozygous familial hypercholesterolaemia: new treatments and clinical guidance
File(s)
Published version
Author(s)
Type
Journal Article
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.
Date Issued
2023-07-01
Date Acceptance
2023-03-16
Citation
European Heart Journal, 2023, 44 (25), pp.2277-2291
ISSN
0195-668X
Publisher
Oxford University Press
Start Page
2277
End Page
2291
Journal / Book Title
European Heart Journal
Volume
44
Issue
25
Copyright Statement
© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/37130090
PII: 7148157
Subjects
Cardiac & Cardiovascular Systems
Cardiovascular System & Cardiology
Clinical guidance
Diagnosis
EFFICACY
EVOLOCUMAB
EXPERIENCE
Genetics
Homozygous familial hypercholesterolaemia
INTEGRATED GUIDANCE
LDL-APHERESIS
LIFE
Life Sciences & Biomedicine
LIPOPROTEIN APHERESIS
LIVER-TRANSPLANTATION
OPEN-LABEL
Science & Technology
TRANSFER PROTEIN INHIBITOR
Treatment
Women
Publication Status
Published
Coverage Spatial
England
Date Publish Online
2023-05-02