Proposal of a familial hypercholesterolemia paediatric
diagnostic score (FH-PeDS)

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Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)

Přehled o publikaci

J 2025

Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)

KAFOL, Jan; Beatriz MIRANDA; Rok SIKONJA; Jaka SIKONJA; Albert WIEGMAN et. al.

Basic information

Original name

Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)

Authors

Edition

EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY, OXFORD, OXFORD UNIV PRESS, 2025, 2047-4873

Other information

Language

English

Type of outcome

Article in a journal

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

is not subject to a state or trade secret

References:

URL

Organization

Lékařská fakulta – Repository – Repository

DOI

https://doi.org/10.1093/eurjpc/zwaf352

UT WoS

001550751800001

EID Scopus

999

Keywords in English

Familial hypercholesterolemia; Diagnostic criteria; Detection; Machine learning model; Cardiovascular disease; Children

Links

LX22NPO5104, research and development project.

Changed: 2/9/2025 00:50, RNDr. Daniel Jakubík

Abstract

In the original language

lt; 0.01) despite population differences. Conclusion Current FH diagnostic criteria perform sub-optimally in children. FH-PeDS and ML-FH-PeDS provide tools to improve FH detection, particularly where genetic testing is limited. They also help guide genetic testing decisions for hypercholesterolemic children. By enabling earlier diagnosis and intervention, these tools may reduce long-term cardiovascular risk and improve outcomes.

Files attached

https://is.muni.cz/publication/2514928/Proposal_of_a_familial_hypercholesterolemia_paediatric_diagnostic_score__FH-PeDS_.pdf

Cite

KAFOL, Jan; Beatriz MIRANDA; Rok SIKONJA; Jaka SIKONJA; Albert WIEGMAN; Ana Margarida MEDEIROS; Ana Catarina ALVES; Tomáš FREIBERGER; Barbara A HUTTEN; Matej MLINARIC; Tadej BATTELINO; Steve E HUMPHRIES; Mafalda BOURBON and Urh GROSELJ. Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS). EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY. OXFORD: OXFORD UNIV PRESS, 2025, 13 pp. ISSN 2047-4873. Available from: https://doi.org/10.1093/eurjpc/zwaf352.

@article{82335,
   author = {Kafol, Jan and Miranda, Beatriz and Sikonja, Rok and Sikonja, Jaka and Wiegman, Albert and Medeiros, Ana Margarida and Alves, Ana Catarina and Freiberger, Tomáš and Hutten, Barbara A and Mlinaric, Matej and Battelino, Tadej and Humphries, Steve E and Bourbon, Mafalda and Groselj, Urh},
   article_location = {OXFORD},
   doi = {https://doi.org/10.1093/eurjpc/zwaf352},
   keywords = {Familial hypercholesterolemia; Diagnostic criteria; Detection; Machine learning model; Cardiovascular disease; Children},
   language = {eng},
   issn = {2047-4873},
   journal = {EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY},
   title = {Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)},
   url = {https://academic.oup.com/eurjpc/advance-article/doi/10.1093/eurjpc/zwaf352/8169832?login=true},
   year = {2025}
}

TY  - JOUR
ID  - 82335
AU  - Kafol, Jan - Miranda, Beatriz - Sikonja, Rok - Sikonja, Jaka - Wiegman, Albert - Medeiros, Ana Margarida - Alves, Ana Catarina - Freiberger, Tomáš - Hutten, Barbara A - Mlinaric, Matej - Battelino, Tadej - Humphries, Steve E - Bourbon, Mafalda - Groselj, Urh
PY  - 2025
TI  - Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)
JF  - EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
PB  - OXFORD UNIV PRESS
SN  - 2047-4873
KW  - Familial hypercholesterolemia
KW  - Diagnostic criteria
KW  - Detection
KW  - Machine learning model
KW  - Cardiovascular disease
KW  - Children
UR  - https://academic.oup.com/eurjpc/advance-article/doi/10.1093/eurjpc/zwaf352/8169832?login=true
N2  - lt; 0.01) despite population differences. Conclusion Current FH diagnostic criteria perform sub-optimally in children. FH-PeDS and ML-FH-PeDS provide tools to improve FH detection, particularly where genetic testing is limited. They also help guide genetic testing decisions for hypercholesterolemic children. By enabling earlier diagnosis and intervention, these tools may reduce long-term cardiovascular risk and improve outcomes.
ER  -

KAFOL, Jan; Beatriz MIRANDA; Rok SIKONJA; Jaka SIKONJA; Albert WIEGMAN; Ana Margarida MEDEIROS; Ana Catarina ALVES; Tomáš FREIBERGER; Barbara A HUTTEN; Matej MLINARIC; Tadej BATTELINO; Steve E HUMPHRIES; Mafalda BOURBON and Urh GROSELJ. Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS). \textit{EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY}. OXFORD: OXFORD UNIV PRESS, 2025, 13 pp. ISSN~2047-4873. Available from: https://doi.org/10.1093/eurjpc/zwaf352.