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Record W4367668438 · doi:10.1093/eurheartj/ehad197

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

2023· article· en· W4367668438 on OpenAlex
Marina Cuchel, Frederick J. Raal, Robert A. Hegele, Khalid Al‐Rasadi, Marcello Arca, Maurizio Averna, Éric Bruckert, Tomáš Freiberger, Daniel Gaudet, Mariko Harada‐Shiba, Lisa C. Hudgins, Meral Kayıkçıoğlu, L. Masana, Klaus G. Parhofer, Jeanine E. Roeters van Lennep, Raúl D. Santos, Erik S.G. Stroes, Gerald F. Watts, Albert Wiegman, Jane K. Stock, Lâle Tokgözoğlu, Alberico L. Catapano, Kausik K. Ray

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueEuropean Heart Journal · 2023
Typearticle
Languageen
FieldMedicine
TopicLipoproteins and Cardiovascular Health
Canadian institutionsUniversité de MontréalUniversité du Québec à ChicoutimiWestern University
FundersEsperion TherapeuticsSilence TherapeuticsGlaxoSmithKlineHLS TherapeuticsSwedish Orphan BiovitrumServierDaiichi-SankyoAmryt PharmaAstellas PharmaRegeneron PharmaceuticalsMylanIonis PharmaceuticalsAstraZenecaAmarin CorporationREGENXBIODanoneAlexion PharmaceuticalsKowa CompanySanofiAmgenPfizerEli Lilly and CompanyIronwood Pharmaceuticals, IncorporatedMedpaceUltragenyx Pharmaceutical
KeywordsMedicineFamilial hypercholesterolemiaGenetic testingStatement (logic)Lipoprotein(a)Intensive care medicineFamily medicinePhysical therapyPediatricsInternal medicineLipoproteinCholesterol

Abstract

fetched live from OpenAlex

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.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.004
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesInsufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.754
Threshold uncertainty score0.999

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0040.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0000.002

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.101
GPT teacher head0.360
Teacher spread0.259 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it