A proposed clinical tool to identify high-risk patients for monogenic lupus: a pilot study
Authors' conclusion
Our clinical score appears to be a valuable tool for the early identification of patients with monogenic lupus who may require further molecular genetic testing for confirmation.
Study context
- Population
- Patients with monogenic lupus and controls with various autoimmune and autoinflammatory diseases10-item clinical score
- Participants
- 10 vs 30
- Comparison
- Clinical score in monogenic lupus vs controls with various autoimmune and autoinflammatory diseases
- Monogenic lupusn = 10
- Controlsn = 30reference
- Outcome
- Score threshold distinguishing monogenic from non-monogenic lupus (ROC curve)
Methodological detailspilot study, expert panel consensus (80%), ROC curve threshold
- Pilot study
- Expert panel consensus (80%)
- ROC curve threshold
Performance
As reported in the abstract
Clinical score >3 for diagnosing monogenic lupus
Sensitivity, score more than three
90%
Specificity, score more than three
90%
Further findings
Most frequent items: ANA positivity, consanguinity, early onset (<5 years)
- No significant differences between monogenic lupus and controls
Family history of lupus, failure to thrive, cutaneous lesions, brain imaging changes, low C1q, recurrent infections
- Significantly higher rates in monogenic lupus
- Monogenic lupus achieved the highest scores vs controls
Original publication
A proposed clinical tool to identify high-risk patients for monogenic lupus: a pilot study. Clin Exp Rheumatol. Published 7 May 2024. doi:10.
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