Publications by authors named "Tomelleri A"
Objective: To evaluate the cardiac involvement in patients with Still's disease with a focus on myocarditis included in the multicenter AIDA (AutoInflammatory Disease Alliance) network Still's disease registry. To exploit the predictive factors for myocarditis in deriving a clinical risk patient profile for this severe manifestation.
Methods: A multicenter observational study was built up assessing consecutive patients with Still's disease characterized by the cardiac involvement among those included in the AIDA Network Still's Disease Registry.
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is a haemato-inflammatory syndrome genetically defined by somatic mutations in the X-linked UBA1 gene, typically Val/Thr/Leu substitutions at the Met41 hotspot. Clinical manifestations are heterogeneous and refractory to most haemato-rheumatological treatments. To date, no guidelines exist for the management of VEXAS, and scarce is the evidence on methodology and clinical significance of longitudinal UBA1 clonal burden evaluation upon therapy.
View Article and Find Full Text PDFImpact of Exposure to Environmental Particulate Matter on the Onset of Giant Cell Arteritis.
Arthritis Care Res (Hoboken)
January 2025
Article Synopsis
- - The study explored the link between exposure to particulate matter (PM) and the risk of developing giant cell arteritis (GCA) in patients from three hospitals in northern Italy.
- - It included 232 patients, revealing a 27.1% increased risk of GCA for every 10-μg/m increase in PM concentration over a 60-day period, particularly affecting older individuals (≥70 years).
- - The findings suggest that prolonged exposure to high levels of PM correlates with a higher likelihood of GCA onset, pointing to a need for awareness of air pollution's health impacts.
Objective: The efficacy of Janus kinase inhibitors (JAKi) in rheumatoid arthritis (RA) has been clearly shown. However, information on comparative drug retention rates (DRRs) of different JAKi is heterogeneous. The aim of this study was to compute and compare DRRs of different JAKi in a large cohort of RA patients.
View Article and Find Full Text PDFDevelopment of a diagnostic prediction model for giant cell arteritis by sequential application of Southend Giant Cell Arteritis Probability Score and ultrasonography: a prospective multicentre study.
Lancet Rheumatol
May 2024
Background: Giant cell arteritis is a critically ischaemic disease with protean manifestations that require urgent diagnosis and treatment. European Alliance of Associations for Rheumatology (EULAR) recommendations advocate ultrasonography as the first investigation for suspected giant cell arteritis. We developed a prediction tool that sequentially combines clinical assessment, as determined by the Southend Giant Cell Arteritis Probability Score (SGCAPS), with results of quantitative ultrasonography.
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- - VEXAS syndrome is a new autoinflammatory disease that often affects various organs, with noticeable inflammatory issues in the eyes and orbits.
- - In a study of 59 VEXAS patients, 45.8% exhibited orbital/ocular problems, with periorbital edema and episcleritis being the most common conditions observed.
- - There is a significant link between relapsing polychondritis and eye involvement in VEXAS, and patients with eye issues showed higher mortality rates, indicating the need for closer monitoring by healthcare providers.
Secukinumab is a monoclonal antibody directed against interleukin-17 approved for the treatment of psoriasis and spondyloarthritis. The favorable oncological profile of secukinumab in patients with a history of malignancy has been shown in patients with psoriasis. However, systematic data to this regard have not been published yet for patients with spondyloarthritis.
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- This study evaluated the effectiveness of a systemic score in predicting severe outcomes in patients with Still disease, including the risk of mortality and severe complications like macrophage activation syndrome.
- Involving 597 patients, the study found that a higher systemic score significantly correlated with life-threatening outcomes, with scores of 7 or above indicating a greater risk.
- Key components that were most predictive of severe outcomes included liver and lung involvement, emphasizing the importance of these factors in managing Still disease.
Relapses and late complications remain a concern in giant cell arteritis (GCA). Monitoring strategies are required to effectively tailor treatment and improve patients' outcomes. Current monitoring of GCA is based on clinical assessment and evaluation of traditional inflammatory markers such as C reactive protein and erythrocyte sedimentation rate; however, this approach has limited value in patients receiving interleukin (IL)-6 blocking agents.
View Article and Find Full Text PDFVEXAS syndrome is an acquired autoinflammatory disease characterized in most cases by cytopenias and macrocytic anemia. Dyshematopoiesis is a frequent finding in chronic inflammatory conditions and therefore, cytopenias are not easily classified in VEXAS patients. Here we report a series of 7 patients affected by VEXAS associated cytopenias, treated at our center.
View Article and Find Full Text PDFBackground: Adult-onset Still's disease (AOSD) and systemic juvenile idiopathic arthritis (sJIA) resemble a continuum of a rare, polygenic IL-1β-driven disease of unknown etiology.
Objective: In the present study we sought to investigate a potential role of recently described autoantibodies neutralizing the interleukin-1(IL-1)-receptor antagonist (IL-1-Ra) in the pathogenesis of Still's disease.
Methods: Serum or plasma samples from Still's disease patients (AOSD, n = 23; sJIA, n = 40) and autoimmune and/or inflammatory disease controls (n = 478) were analyzed for autoantibodies against progranulin (PGRN), IL-1Ra, IL-18 binding protein (IL-18BP), and IL-36Ra, as well as circulating IL-1Ra and IL-36Ra levels by ELISA.
Introduction: The effectiveness of canakinumab may change according to the different times it is used after Still's disease onset. This study aimed to investigate whether canakinumab (CAN) shows differences in short- and long-term therapeutic outcomes, according to its use as different lines of biologic treatment.
Methods: Patients included in this study were retrospectively enrolled from the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to Still's disease.
Article Synopsis
- VEXAS is a unique disease that combines symptoms of rheumatologic and hematologic disorders, and this study aimed to better understand its diagnosis and genetic features while tracking changes over time with different treatments.
- Researchers gathered data from various centers in Italy, finding that 41 male patients had significant mutations in the UBA1 gene, mostly diagnosed around age 67, all presenting with anemia and common rheumatologic issues like polychondritis.
- A high percentage of these patients also had myelodysplastic syndrome (MDS), showcasing diverse genetic mutations, and the study noted that after treatment like hematopoietic cell transplants, some mutations were cleared.
Article Synopsis
- - This study investigates whether pediatric-onset, adult-onset, and elderly-onset Still's disease are the same condition or different diseases by comparing demographic, clinical, and treatment response data across these age groups.
- - Out of 411 patients surveyed, most were adults (76.4%), while 15.8% were pediatric and 7.8% were elderly, with significant differences found in symptoms like skin rash and arthritis being more prevalent in children, and pleuritis in the elderly.
- - Overall, while some minor differences in symptoms and lab results were noted among the age groups, the study concludes that Still's disease has similar demographic and treatment characteristics across pediatric, adult, and elderly patients.
Objective: The aim of the present study was to determine the clinical significance of subclinical giant cell arteritis (GCA) in polymyalgia rheumatica (PMR) and ascertain its optimal treatment approach.
Methods: Patients with PMR who fulfilled the 2012 European Alliance of Associations for Rheumatology/American College of Rheumatology Provisional Classification Criteria for PMR, did not have GCA symptoms and were routinely followed up for 2 years and were stratified into two groups, according to their ultrasound results: isolated PMR and PMR with subclinical GCA. The outcomes (relapses, glucocorticoid use and disease-modifying antirheumatic drug treatments) between groups were compared.
This geoepidemiological study, performed in Italy and France, shows that Erdheim-Chester disease is increasingly diagnosed and cases cluster in specific geographic areas, namely southern Italy and central France. Disease frequency inversely correlates with the Human Development Index.
View Article and Find Full Text PDFManagement of COVID-19 patients experiencing persisting respiratory failure despite corticosteroids remains challenging. Data on high-dose intravenous anakinra (HD-ANK) in this context are lacking. We aimed to investigate the impact of HD-ANK on mortality in COVID-19 patients progressing to non-invasive ventilation (NIV) while receiving corticosteroids.
View Article and Find Full Text PDFGiant cell arteritis (GCA) and polymyalgia rheumatica (PMR) are common conditions in older adults. Their clinical connection has been recognized over time, with many patients experiencing both conditions separately, simultaneously or in temporal sequence to each other. Early GCA detection is essential to prevent vascular damage, but identifying subclinical GCA in PMR patients remains a challenge and routine screening is not standard practice.
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- A study assessed the clinical characteristics and treatment effectiveness of methotrexate (MTX) in patients with Still's disease, focusing on changes in disease activity and inflammatory markers.
- Among the 171 patients studied, MTX was commonly used with glucocorticoids (GCs), and many showed significant improvement, with 38.6% achieving clinical remission and reduced inflammation.
- The results suggest that MTX is effective in managing Still's disease symptoms, reducing the need for GCs, though some patients discontinued MTX due to side effects or lack of efficacy.
Article Synopsis
- A study compared two ways of giving a medicine called tocilizumab to patients with a disease called Takayasu arteritis (TAK).
- They looked at 109 patients from different countries and found that both methods worked similarly well after 6 months, with about 69% showing improvement.
- However, patients who got tocilizumab as a shot under the skin had a higher chance of getting worse again compared to those who received it through an IV.
Article Synopsis
- Giant cell arteritis (GCA) and polymyalgia rheumatica (PMR) are inflammatory conditions often treated together under the term GCA-PMR spectrum disease (GPSD), both showing strong responses to glucocorticoid treatment.
- These conditions vary significantly in their risks for complications, treatment responses, and relapse rates, requiring a detailed stratification approach based on patient characteristics and clinical data.
- Patients with cranial symptoms have a higher risk of immediate vision loss but fewer long-term relapses, while those with large-vessel involvement face different challenges, highlighting the need for tailored management strategies.