Diagnostic yield and clinical impact of multigene autoinflammatory panels in adult routine care (2018–2025): the role of pre-test clinical suspicion
Abstract format and assignment number: Poster, POS0111
Date: Thursday, 4 June, 13:54-14:00
Presenting author: J. Manzaneque Sánchez (Spain)
In adult routine care, multigene autoinflammatory panels showed a diagnostic yield only in 21 of 171 patients (12.3%) with a substantial burden of non-definitive findings such as VUS in core genes. Phenotype-informed test selection substantially increased the diagnostic yield. Broad panel testing in unselected patients had limited incremental value and increased non-actionable additional-gene findings.
Colchicine use reduces major cardiovascular events in Behçet’s disease
Abstract format and assignment number: Poster, POS0136
Date: Thursday, 4 June, 13:42-13:48
Presenting author: L. Cantarini (Italy)
In this international cohort of 1246 Behçet’s patients, sustained colchicine exposure for 6 months or more was found to be associated with a significantly lower risk of major cardiovascular events (HR=0.37 [95% CI: 0.17-0.78]) after propensity score matching. This effect was observed despite a more inflammatory clinical phenotype among colchicine-treated patients.
Prevalence, patterns, and predictors of damage in autoinflammatory diseases through the ADDI score: insights from the EUROFEVER registry
Abstract format and assignment number: Oral presentation, OP0323
Date: Friday, 5 June, 08:35-08:45
Presenting author: P. Baldassarre (Italy)
This study provides a comprehensive characterization of damage patterns and prevalence across multiple autoinflammatory diseases (AIDs) in 3576 patients from the Eurofever registry. ADDI proved effective for assessing damage in both validated conditions (FMF, CAPS, MKD, TRAPS) and less common AIDs. CAPS, DADA2, and undefined AIDs exhibited the highest damage burden, while FMF showed lower rates.
Clonal hematopoiesis as a second hit driving atypical and severe manifestations in adult Familial Mediterranean Fever
Abstract format and assignment number: Poster, POS0409
Date: Wednesday, 3 June, 15:30-16:30
Presenting author: P. Mertz (France)
Clonal hematopoiesis (CH) was found highly prevalent (45%) in adult FMF patients with atypical and destabilized disease or in those with novel findings and was strongly associated with severe manifestations, particularly pericarditis. Screening for CH should be considered for FMF patients over 40 years of age who present with unexplained disease worsening, as early identification could facilitate closer monitoring and treatment modification.
Screening for Transthyretin Amyloid Cardiomyopathy in patients with musculoskeletal (msk) symptoms: a monocentric prospective exploratory study of msk imaging utility
Abstract format and assignment number: Poster, POS1164
Date: Wednesday, 3 June, 15:30-16:30
Presenting author: T. Bardin (France)
ATTR amyloidosis could be detectable in more than half (38/70, 54.3%) of the biopsies taken during carpal tunnel and spinal stenosis surgeries of older patients particularly if evaluated under fluorescence rather than polarized light, allowing early ATTR-cardiomyopathy diagnosis and treatment. US scans were not able to increase suspicion of amyloid and to help selecting proper indications of musculoskeletal biopsies.
Ufuk Ilgen
Country: Turkey
Ufuk is a clinical and translational rheumatologist from Mersin University, Turkey. One of his main interest areas is autoinflammatory diseases and amyloidosis. He is currently a member of EMEUNET Country Liaisons Subcommittee and Turkish Society for Rheumatology.