Home
Deutsch
Advanced Search
Browse by ...
Publication overview
Contact persons
Help
Postprint
Research data
DOI
PMC
 |
Open Access Green |
as soon as is submitted to ZB.
Clinical scores fail to sufficiently identify children with Familial Hypercholesterolemia.
Eur. J. Prev. Cardiol., 9 (2025)
AIM: The study aimed to assess the effectiveness of three clinical diagnostic criteria (Simon Broome, MEDPED, and guideline-derived) in identifying children with familial hypercholesterolemia (FH) compared to genetic testing. The evaluation involved 1337 children with elevated LDL-C levels, focusing on the sensitivity and specificity of these clinical scores in detecting genetically confirmed FH cases. METHODS: Clinical data were gathered by a self-reporting questionnaire. Clinical FH was defined in accordance with the tested FH score. Genetically confirmed heterozygous FH (HeFH) was defined by a (likely) pathogenic variant. RESULTS: Of 1337 children undergoing genetic analysis, 211 showed a pathogenic FH mutation. Applying SB, MP and GL-EAS criteria resulted in 210/1337, 125/1337 and 112/835 children being categorized to have FH clinically. The sensitivity of the clinical scores ranged from 0.44-0.54 with a positive predictive value (PPV) of 0.51-0.79. The specificity was 0.91-0.97 with a negative predictive value (NPV) of 0.89-0.91. Similar results were observed for the three clinical scores regarding sensitivity, specificity, PPV and NPV in subgroup analyses defined by gender, age (<10 years vs ≥10 years), or weight (≥90th BMI-percentile vs <90th BMI-percentile). CONCLUSION: Clinical FH scores offer a high degree of specificity for FH diagnosis in children, but at the expense of low sensitivity. Specifically, half of the mutation-positive children in this study would have been missed for early diagnosis and preventive treatment. Given the widespread availability of affordable genetic testing such analysis should be performed at a lower threshold than that indicated by these clinical scores.
Altmetric
Additional Metrics?
Edit extra informations
Login
Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Familial Hypercholesterolemia ; Clinical Scores ; Genetic Testing ; Prevention ; Screening; Diagnosis; Population; Statins; Risk; Care
ISSN (print) / ISBN
2047-4873
e-ISSN
2047-4881
Quellenangaben
Pages: 9
Publisher
Sage
Publishing Place
Great Clarendon St, Oxford Ox2 6dp, England
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
Grants
Bayerisches Staatsministerium fur Gesundheit, Pflege und Prevention (Bavarian State Ministry of Health, Care and Prevention) StMGP
Bayerisches Staatsministerium fur Gesundheit, Pflege und Prevention (Bavarian State Ministry of Health, Care and Prevention) StMGP