Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review
Performance · Detection of disease-causing FH variantResult — go to the resultΔ 0.006Authors' conclusion
Missing criteria and severe discrepancies observed between retrospective and on-site scoring by treating physicians were highly prevalent, confirming limited utility of DLCNS in clinical routine
Study context
- Population
- Patients undergoing routine molecular genotyping for familial hypercholesterolaemia over 4 yearsgenotyped
- Participants
- 469 patients
- Comparison
- Off-treatment LDL-C >190 mg/dL alone vs Dutch Lipid Clinic Network Score (DLCNS) for familial hypercholesterolaemia (FH) screening
- Outcome
- Diagnostic performance of DLCNS vs off-treatment LDL-C alone for FH
Methodological detailsretrospective, 2 Austrian specialist lipid clinics, with literature review, DLCNS calculated retrospectively and compared with scores documented in patient charts
- Retrospective
- 2 Austrian specialist lipid clinics
- With literature review
- DLCNS calculated retrospectively and compared with scores documented in patient charts
Performance
Detection of disease-causing FH variant
Δ
0.006
P = 0.660
By group
LDL-C
- Sensitivity
- 84.9%
- Specificity
- 39.0%
DLCNS
- Sensitivity
- 53.8%
- Specificity
- 84.1%
Sensitivity
LDL-C84.9%
DLCNS53.8%
Specificity
LDL-C39.0%
DLCNS84.1%
As reported in the abstract
Further findings
Disease-causing variant (yield of genetic testing)
- Patients with disease-causing variant
- 21.3%
DLCNS availability and documentation
- Median DLCNS criteria unavailable (of 8)
- 3
- DLCNS documented in charts
- 48%
- Significant discrepancies vs retrospective scoring
- P < 0.001
Original publication
Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review. Eur J Prev Cardiol. Published 13 November 2024. doi:10.
Summarised from the published abstract; every number is checked against it