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Positive tests results for antinuclear antibodies (ANAs) are frequently referred to rheumatology despite their poor predictive value, even in individuals who are ‘At Risk’ for autoimmune connective tissue diseases (AI-CTDs). A new study shows that combining ANA positive with interferon-stimulated gene expression increased the liklihood of progression to AI-CTD.
This prospective observational study studied 118 individuals who were ANA positive, had one or more SLE criteria for <12 months and were treatment-naïve. They also used 49 healthy controls (HCs) and 114 SLE were used as negative and positive controls.
Over a 12-month period, 19/118 (16%) progressed to AI-CTD (SLE=14, primary Sjogren’s=5).
Baseline IFN (IFN-A, IFN-B) scores differed among At-Risk, HCs and SLE groups (p<0.001) and were elevated in At-Risk who progressed to AI-CTD at 12 months.
Those who progressed to AI-CTD did not have other distinguishing baseline clinical characteristics or ultrasound findings.
The odds of progression were more likely in those with a family history of autoimmune rheumatic disease (OR 8.2 (95% CI 1.58 to 42.53) and IFN-Score-B (OR 3.79;1.50–9.58).
While gene testing for IFN signatures would be interesting, if not advantageous, the question remains whether this would be cost effective and predictive in individuals without a positive family history and without lupus-specific clinical characteristics. Nonethless, this approach allows for the potential of early stratification of individuals At-Risk for AI-CTD.