Přehled o publikaci
2026
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
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
Edition
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY, OXFORD, OXFORD UNIV PRESS, 2026, 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:
Marked to be transferred to RIV
No
Organization
Lékařská fakulta – Repository – Repository
UT WoS
EID Scopus
Keywords in English
Familial hypercholesterolemia; Diagnostic criteria; Detection; Machine learning model; Cardiovascular disease; Children
Links
LX22NPO5104, research and development project.
Changed: 21/2/2026 00:51, 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.
