Author: Francesca Crisafulli
Jachiet et al. (OP0231) evaluated retrospectively the efficacy and safety of azacitidine (AZA) treatment in 57 VEXAS patients, including 50 with myelodysplastic syndrome (MDS) and 7 without, from the French national registry. Among 51 patients who received at least 3 cycles of AZA, 77% had a complete or partial inflammatory response (‘with MDS’: 76%; ‘without MDS’: 83%). Additionally, AZA treatment appeared to exert a significant impact on clonal evolution (n=28): 32% of patients had a negativization of Variant Allele Frequency (VAF), and 43% had a decrease in VAF by more than 50%. Infections during follow-up were reported, indicating the need of close monitoring during treatment.
Fayand et al. (OP0290) assessed the relevance in clinical practice of the Whole Exome Sequencing (WES) in patients with Autoinflammatory Diseases. Out of 118 patients included, WES provided a diagnosis in 14.6% of those who had not previously undergone Next-Generation Sequencing (NGS) panel testing, and in 5% of those with previous NGS. Moreover, variants requiring further evaluation were found in 13% and 14% of cases, respectively. Overall, WES was found to be not inferior to NGS panel and was deemed more useful when preformed initially.
Prieto-Peña et al. (POS0354) evaluated the utility of Next-Generation Sequencing (NGS) panels in diagnosing and managing Adult-Onset Still’s Disease in a Spanish cohort. Out of 23 patients, 21.7% had genetic variants identified, though none were pathogenic. Variants of uncertain significance (VUS) were frequently linked to atypical symptoms and treatment resistance. Overall, NGS proved valuable in ruling out pathogenic variants and identifying VUS that may help in the identification of patients at risk for atypical manifestations and poor therapy response.
Ruscitti et al. (OP001) evaluated the systemic score’s ability to predict lifethreatening evolution in a multicenter, prospective study involving 597 patients with Still’s disease. The systemic score at the time of diagnosis significantly predicted the life-threatening evolution, whether considered as a continuous or dichotomous (≥ 7) variable. Liver involvement and lung disease were identified as independent predictors of poor outcomes, with lung disease also significantly associated with mortality.
Napoletano et al. (OP0275), Fontana et. al (POS1328), and Campagne et al. (POS1348) presented different cases of Whipple disease, through both oral and poster presentations, highlighting its potential to mimic rheumatic diseases and emphasizing the importance of diagnostic work-up, including histological assays.
ABOUT THE AUTHOR
Francesca Crisafulli
Francesca is a Rheumatologist and PhD at the Rheumatology and Clinical Immunology Unit of ASST Spedali Civili and University of Brescia, Italy.
Her major interests are reproductive health in patients with rheumatic diseases and autoinflammatory diseases.
Francesca is a member of the Visibility & Global Affairs Sub-committee