Archives of rheumatologyPub Date : 2024-12-12eCollection Date: 2024-12-01DOI: 10.46497/ArchRheumatol.2024.10893
Doaa Attia, Lobna Maged
{"title":"Behçet's Syndrome Overall Damage Index performance and validation in an adult Egyptian cohort.","authors":"Doaa Attia, Lobna Maged","doi":"10.46497/ArchRheumatol.2024.10893","DOIUrl":"10.46497/ArchRheumatol.2024.10893","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to evaluate the performance of the Behçet's Syndrome Overall Damage Index (BODI) in an adult Egyptian cohort.</p><p><strong>Patients and methods: </strong>This longitudinal retrospective cohort study included 282 adult patients (233 males, 49 females; mean age: 35.3±8.7 years; range, 16 to 66 years) with Behçet's disease (BD) between January 1980 and December 2022. BODI was assessed regarding construct validity, sensitivity to change, and intra- and inter-rater reliability. The ability of BODI to discriminate between activity and damage was evaluated. Its performance in another vasculitis syndrome was assessed in 12 patients with antineutrophil cytoplasmic antibody-associated vasculitis.</p><p><strong>Results: </strong>BODI captured more damage items compared to the Vasculitis Damage Index (VDI). BODI scores were not correlated with disease activity and had poor performance in other vasculitides. BODI had a trend of progressive increment over time. It showed consistence when reassessed by the same rater and by different raters. Some damage items in the study cohort were lacking in BODI.</p><p><strong>Conclusion: </strong>BODI is more comprehensive compared to VDI. It shows good face, construct, and discriminant validity. It is sensitive to change and has good intra- and inter-rater reliability. Newer versions of BODI are recommended to increase score comprehensiveness.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 4","pages":"607-616"},"PeriodicalIF":1.1,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A comparison of thermal characteristics of the small joints of the hands between patients with rheumatoid arthritis and healthy controls.","authors":"Sevcan Uğur, Yakup İrim, Ayşe Ayça Yücel, Hamza Feza Carlak, Cahit Kaçar","doi":"10.46497/ArchRheumatol.2024.10753","DOIUrl":"10.46497/ArchRheumatol.2024.10753","url":null,"abstract":"<p><strong>Objectives: </strong>This study aims to investigate the thermal characteristics of the small joints of the hands between patients with rheumatoid arthritis (RA) and healthy controls.</p><p><strong>Patients and methods: </strong>Between December 2020 and May 2021, a total of 52 RA patients (9 males, 43 females; mean age: 52.1±11.1 years; range, 38 to 68 years) who met the revised American College of Rheumatology and European League Against Rheumatism (ACR/EULAR) classification criteria and 26 healthy controls (10 males, 16 females; mean age: 51.2±8.2 years; range, 38 to 68 years) were included. Joint tenderness was evaluated using Ritchie articular index (RAI). Joint tenderness was scored from 0 to 3. Thermal data were collected from the hand regions of individuals. A FLIR T450sc microbolometer infrared thermal camera with 320×240 resolution was used for the thermography of individuals. Bilaterally proximal interphalangeal joints (1-5) and metacarpophalangeal joints (1-5) were evaluated. The mean temperature was compared between the patients and healthy controls.</p><p><strong>Results: </strong>The mean disease duration of patients with RA was 10.4±8.9 years. The mean temperature values of the joints in the patients with a RA RAI score of 0, 1, 2, 3 were 32.43±1.59°C; 32.71±1.36°C; 33.12±1.23°C; 33.60±0.99°C, respectively. The mean temperature was 31.14±1.51°C in healthy controls. The mean temperature values of the joints in the RA patients with RAI score of 0 was higher compared to healthy controls (p<0.05). Patients with a Ritchie sensitivity score of 1 had a higher mean temperature compared to patients with score of 0 (p<0.05). In RA patients, the joints with a RAI score of 1 had higher mean temperature values than the joints with RAI score of 0 (p<0.05). The mean temperature values of the joints with RAI score of 2 were also higher than the joints with RAI score of 1 (p<0.05).</p><p><strong>Conclusion: </strong>Our study results suggest that thermal imaging may be an objective tool for diagnosis and assessing disease activity in RA.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 4","pages":"617-623"},"PeriodicalIF":1.1,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Archives of rheumatologyPub Date : 2024-12-12eCollection Date: 2024-12-01DOI: 10.46497/ArchRheumatol.2024.10435
Rongzhi Liu, Zhipeng Zhan, Enrong Ran, Yanxia Yi, Huamin Wang
{"title":"A rare case of life-threatening granulomatosis with polyangiitis treated with glucocorticoids combined with cyclophosphamide and hybrid blood purification.","authors":"Rongzhi Liu, Zhipeng Zhan, Enrong Ran, Yanxia Yi, Huamin Wang","doi":"10.46497/ArchRheumatol.2024.10435","DOIUrl":"10.46497/ArchRheumatol.2024.10435","url":null,"abstract":"","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 4","pages":"679-682"},"PeriodicalIF":1.1,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Archives of rheumatologyPub Date : 2024-12-12eCollection Date: 2024-12-01DOI: 10.46497/ArchRheumatol.2024.10330
Mehmet Karabey, Havva Kaya, Alperen Ceylan, Kadir Kaba, Mehmet Özdemir, Bahadır Feyzioğlu
{"title":"The effect of the pandemic on autoantibody rates in the general population.","authors":"Mehmet Karabey, Havva Kaya, Alperen Ceylan, Kadir Kaba, Mehmet Özdemir, Bahadır Feyzioğlu","doi":"10.46497/ArchRheumatol.2024.10330","DOIUrl":"10.46497/ArchRheumatol.2024.10330","url":null,"abstract":"<p><strong>Objectives: </strong>The study aimed to investigate the possible effects of coronavirus disease 2019 (COVID-19) on autoantibodies.</p><p><strong>Patients and methods: </strong>Samples of 89,108 individuals (29,033 males, 60,075 females; median: 36 years; range, 0 to 96 years) who underwent autoimmune testing between January 2017 and May 2022 were retrospectively analyzed. The prepandemic period was defined as May 1, 2017, to March 20, 2020, while the pandemic period was defined as March 20, 2020, to May 31, 2022.</p><p><strong>Results: </strong>Of the participants, 0.55% were of foreign nationality. The positivity rate was 18.12%. Autoantibody positivity rates, when analyzed by sex, were higher in females for antinuclear antibody (ANA), antimitochondrial antibody (AMA), anti-liver kidney microsomal (LKM) antibody, immunoglobulin A (IgA) anti-gliadin antibody, anti-endomysial antibody A, anti-ribosomal P protein antibody, anti-Sjögren's syndrome A (anti-SSA), anti-Sjögren's syndrome B (anti-SSB), anti-Smith/ribonucleoprotein (anti-SM/RNP), anti-SM, and c-ANCA (cytoplasmic antineutrophil cytoplasmic antibody). When the prepandemic period was compared with the pandemic period, AMA, anti-LKM antibody, IgA anti-gliadin antibody, anti-endomysial antibody A, and anti-SM/RNP levels were higher in the prepandemic period, while ANA was higher during the pandemic. Additionally, statistically significant differences were found in the distributions of ANA, AMA, anti-LKM antibody, IgA anti-gliadin antibody, anti-endomysial antibody A, anti-ribosomal P protein antibody, anti-SM, anti-SSA, and c-ANCA across the years.</p><p><strong>Conclusion: </strong>This study could not establish a cause-effect relationship between the changing autoantibody levels during the COVID-19 pandemic and severe acute respiratory syndrome coronavirus 2 infection due to the lack of results from the same patients across different periods. Nonetheless, we believe the quantitative seroprevalence changes in such a large sample of autoantibody screening results over a five-year period, including the pandemic, are valuable.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 4","pages":"541-548"},"PeriodicalIF":1.1,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Archives of rheumatologyPub Date : 2024-12-12eCollection Date: 2024-12-01DOI: 10.46497/ArchRheumatol.2024.10858
Levent Karataş, Ayça Utkan Karasu
{"title":"Association of medial longitudinal arch height and stiffness with lower extremity alignment, pain, and disease severity in knee osteoarthritis: A cross-sectional study.","authors":"Levent Karataş, Ayça Utkan Karasu","doi":"10.46497/ArchRheumatol.2024.10858","DOIUrl":"10.46497/ArchRheumatol.2024.10858","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to investigate the association of medial longitudinal arch (MLA) height and stiffness with lower extremity alignment, pain, and disease severity in patients with knee osteoarthritis (OA).</p><p><strong>Patients and methods: </strong>This cross-sectional study included 90 patients (75 females, 15 males; mean age: 63.6±9.4 years; range, 50 to 90 years) diagnosed with knee OA according to the American College of Rheumatology criteria between December 2022 and June 2024. Medial longitudinal arch height and stiffness were assessed using the arch height index (AHI) method in both sitting and standing positions. The arch stiffness index (ASI) was calculated. The OA-related clinical outcomes included pain severity (numeric rating scale), Western Ontario and McMaster Universities Osteoarthritis Index scores, Kellgren-Lawrence grade, and tibiofemoral angles. Associations between MLA characteristics and OA parameters were examined.</p><p><strong>Results: </strong>Low and high arch rates were 10% and 16%, respectively. No significant differences in OA clinical and radiological parameters were observed across different MLA types. Within-patient comparisons showed higher MLA height in the extremity with greater knee pain and more advanced OA. Correlation analyses indicated that increased ASI was associated with higher arch height and knee varus angles, suggesting a biomechanical interplay between MLA structure and knee joint alignment in advanced OA patients. In the early OA group, ASI was negatively correlated with knee pain severity.</p><p><strong>Conclusion: </strong>A higher medial arch and increased midfoot stiffness were associated with knee pain, radiological severity, and knee varus in patients with OA. These findings support the complex relationship between the foot arch structure and knee OA through the perspective of the lower extremity kinematic chain.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 4","pages":"641-651"},"PeriodicalIF":1.1,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Archives of rheumatologyPub Date : 2024-12-12eCollection Date: 2024-12-01DOI: 10.46497/ArchRheumatol.2024.10546
Wenting Gao, Ying Meng, Yu Chen, Mei Chen
{"title":"Long-term health-related quality of life in Kawasaki disease complicated with coronary artery aneurysm in the Nanjing region of China: Results of the largest single-center assessment.","authors":"Wenting Gao, Ying Meng, Yu Chen, Mei Chen","doi":"10.46497/ArchRheumatol.2024.10546","DOIUrl":"10.46497/ArchRheumatol.2024.10546","url":null,"abstract":"<p><strong>Objectives: </strong>The study aimed to compare the long-term health-related quality of life in children with Kawasaki disease (KD) with and without coronary artery aneurysms (CAAs) in the largest pediatric medical center in the Nanjing region of China.</p><p><strong>Patients and methods: </strong>The retrospective study included a total of 107 patients (54 males, 53 females; mean age: 3.4±1.8 years; range, 2.12 to 1.75 years) between January 2012 and December 2022. Among these patients were a cohort of 64 child patients diagnosed with CAAs due to KD and a control group of 43 hospitalized child patients with KD without CAAs. The children with CAAs were divided into two groups according to the size of their aneurysms: the aneurysm group and the giant aneurysm group. Both child-reported and parent/proxy-reported Pediatric Quality of Life Inventory surveys were collected at baseline and during long-term follow-up.</p><p><strong>Results: </strong>The median follow-up duration was 5.58 years (range, 1.03 to 10.67 years). The mean age at the time of diagnosis was 3.43±1.75 years (range, 2.12 to 12.19 years). At baseline, children reported a total score of 48.63±16.60 and parents reported a mean score of 46.76±14.77 in the giant aneurysm group. The child-reported and parent/proxy-reported outcomes were 54.71±15.82 and 52.73±13.34 in the aneurysm group and 48.30±28.24 and 46.35±15.79 in the control group, respectively. In long-term follow-up, children in the aneurysm group reported a mean score of 81.61±19.50, which was 9.70 (95% confidence interval (CI): 2.22-17.18) points higher than that of the control group (p=0.014) and 9.51 (95% CI: 2.02-16.98) points lower than that of the giant aneurysm group (p=0.012). Similarly, parents reported a mean score of 81.03±12.57 in the aneurysm group, which was significantly lower than that of the control group (p=0.010) and significantly higher than that of the giant aneurysm group (p=0.009).</p><p><strong>Conclusion: </strong>A proportion of children presenting with CAAs without complete recovery often encountered issues that disrupted their well-being during long-term follow-up. Therefore, routine outpatient health-related quality of life screening might be set as an appropriate supportive service to assist in identifying patients with a history of CAAs to eliminate the risk for long-term disabilities following the initial clinical improvement.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 4","pages":"549-557"},"PeriodicalIF":1.1,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Archives of rheumatologyPub Date : 2024-12-12eCollection Date: 2024-12-01DOI: 10.46497/ArchRheumatol.2024.10537
Mehmet Hünür, Tahir Saygın Öğüt, Ece Çelik, Funda Erbasan, Melis Dilbil, Mine Nokay, Mustafa Ender Terzioğlu, Veli Yazisiz
{"title":"Lung involvement in patients with psoriatic arthritis.","authors":"Mehmet Hünür, Tahir Saygın Öğüt, Ece Çelik, Funda Erbasan, Melis Dilbil, Mine Nokay, Mustafa Ender Terzioğlu, Veli Yazisiz","doi":"10.46497/ArchRheumatol.2024.10537","DOIUrl":"10.46497/ArchRheumatol.2024.10537","url":null,"abstract":"<p><strong>Objectives: </strong>The study aimed to describe the prevalence and patterns of pulmonary lesions in the patients with psoriatic arthritis (PsA).</p><p><strong>Patients and methods: </strong>Pulmonary symptoms and thorax imaging findings of 247 patients (155 females, 92 males, mean age: 52.0±12.6 years; range, 23 to 87 years) with PsA diagnosed according to CASPAR (Classification Criteria for Psoriatic Arthritis) diagnostic criteria were retrospectively reviewed between January 01, 2014 and December 31, 2020. Thoracic computed tomography or high-resolution computed tomography, whichever was accessible, was used as the imaging method.</p><p><strong>Results: </strong>Thoracic imaging revealed at least one pulmonary lesion in 25 (10.1%) patients. The frequency of interstitial lung diseases (ILD) was 3.6% (n=9) in the PsA cohort. Other commonly detected pulmonary lesions were pulmonary nodules (n=21, 8.5%) and airway abnormalities (n=15, 6.1%; eight emphysema and seven bronchitis). ILD patterns were nonspecific interstitial pneumonia in three (1.2%) patients, cryptogenic organizing pneumonia in two (0.8%) patients, and probable usual interstitial pneumonia in two (0.8%) patients. ILD patterns in two (0.8%) patients could not be categorized and accepted as unclassifiable type. None of the patients had apical fibrosis. The mean age was higher in patients with ILD (p=0.007), and ILD was found to be more common in males (p=0.010), current or former smokers (p=0.012), and patients receiving hydroxychloroquine treatment (p=0.028).</p><p><strong>Conclusion: </strong>The frequency and severity of ILD in the patients with PsA was lower than those reported in connective tissue diseases. Apical fibrosis, which may be present in ankylosing spondylitis, another member of the spondyloarthritis group, was not detected.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 4","pages":"631-640"},"PeriodicalIF":1.1,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Archives of rheumatologyPub Date : 2024-12-12eCollection Date: 2024-12-01DOI: 10.46497/ArchRheumatol.2024.10749
Tuba Demirci Yıldırım, Rana İşgüder, Ezgi Karaçura, Yeşim Erez, Balahan Makay, Fatoş Önen, Şevket Erbil Ünsal, İsmail Sarı
{"title":"Pediatric to adult rheumatology transition: Success rates, influencing factors, and evolving diagnoses and treatments.","authors":"Tuba Demirci Yıldırım, Rana İşgüder, Ezgi Karaçura, Yeşim Erez, Balahan Makay, Fatoş Önen, Şevket Erbil Ünsal, İsmail Sarı","doi":"10.46497/ArchRheumatol.2024.10749","DOIUrl":"10.46497/ArchRheumatol.2024.10749","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to evaluate the rate of successful transitions, identify factors associated with early versus late transitions, and diagnosis and treatment changes after transition into adult rheumatology.</p><p><strong>Patients and methods: </strong>In this retrospective study, patients with childhood-onset rheumatic diseases who transitioned from pediatric to adult rheumatology care between January 2013 and January 2023 were screened for a successful transition. Successful transitions were defined as maintaining annual visits to the adult rheumatology clinic after transition. Early transition was defined as less than three months between the last pediatric and first adult rheumatology visits.</p><p><strong>Results: </strong>Out of 2,552 referred patients, 210 (8.2%) patients (117 females, 93 males; mean age: 25.2±5.6 years; range, 18 to 44 years) transitioned successfully. Juvenile idiopathic arthritis and familial Mediterranean fever were the most prevalent rheumatic diseases. The median transition time was four months (interquartile range, 1 to 13 months) in patients with successful transition, and the early transition rate was 46.7%. Receiving biologic disease-modifying antirheumatic drugs was found to be associated with early transition (28.6% <i>vs.</i> 17.0%, p=0.040), and higher education levels and familial Mediterranean fever diagnosis were found to be associated with late transition. The treatment was changed for about half of the patients after transition to adult rheumatology. Patients with juvenile idiopathic arthritis were reclassified in 25 (31.6%) patients as rheumatoid arthritis, in 22 (27.8%) patients as ankylosing spondylitis, in 20 (25.3%) patients as nonradiographic axial spondyloarthritis, and in eight (10.1%) patients as psoriatic arthritis.</p><p><strong>Conclusion: </strong>A successful transition to adult rheumatology is essential for adolescents and young adults with childhood-onset rheumatic diseases. The successful transition rate in this study was relatively low, highlighting the need for standardized transition programs.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 4","pages":"662-669"},"PeriodicalIF":1.1,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883249/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Deficiency of interleukin-1 receptor antagonist: A systematic review.","authors":"Wérgila Ruana Gonçalves Barros, Jucier Gonçalves Júnior","doi":"10.46497/ArchRheumatol.2024.10882","DOIUrl":"10.46497/ArchRheumatol.2024.10882","url":null,"abstract":"<p><strong>Objectives: </strong>The study aimed to conduct a systematic literature review of the epidemiology, pathophysiology, clinical presentation, diagnosis, and treatment of patients with deficiency of the interleukin-1 receptor antagonist (DIRA) and determine the practical contributions that the current scientific literature offers concerning the clinical and epidemiological aspects of DIRA.</p><p><strong>Materials and methods: </strong>A systematic review of the literature was conducted in the PubMed, Scopus, Web of Science, and the Virtual Health Library databases between January 2009 and June 2024 in accordance with the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) protocol. The following MeSH descriptors were used: \"interleukin-1 receptor antagonist deficiency,\" \"epidemiology,\" \"clinical manifestations,\" \"treatment,\" and \"physiopathology.\"</p><p><strong>Results: </strong>Of the 3,749 articles, 18 met the eligibility criteria. The findings were divided by heuristic questions into three groups: \"epidemiological and genetic aspects of patients with DIRA,\" \"clinical and laboratory characterization in DIRA,\" and \"therapeutic approach to patients with DIRA.\"</p><p><strong>Conclusion: </strong>DIRA appears to be more common in males around four years of age. Several IL-1RN mutations were described, varying according to the geographic location. The most common symptoms were fever, followed by osteoarticular manifestations (arthralgia, muscle contracture, fracture, osteolytic lesions, and osteomyelitis), nail changes, pneumonia, venous thrombosis, and, in severe cases, multiple organ failure. There were no specific laboratory markers. Canakinumab was the drug of choice; however, glucocorticoids, rilonacept, and anakinra have been used.</p>","PeriodicalId":93884,"journal":{"name":"Archives of rheumatology","volume":"39 4","pages":"566-578"},"PeriodicalIF":1.1,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883257/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143588735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}