OBJECTIVE: As the duration of use of biological disease-modifying antirheumatic drugs (bDMARDs) in patients with radiographic axial spondyloarthritis (r-axSpA) accumulates over time, long-term real-world safety data on c...OBJECTIVE: As the duration of use of biological disease-modifying antirheumatic drugs (bDMARDs) in patients with radiographic axial spondyloarthritis (r-axSpA) accumulates over time, long-term real-world safety data on cancer risk are needed. This study assessed the association between tumor necrosis factor inhibitors (TNFis) and interleukin 17 inhibitors (IL-17is) exposures and cancer risk in patients with r-axSpA. METHODS: From the Korean nationwide database, we assembled 41,889 patients without prior history of cancer who were diagnosed with r-axSpA from 2010 onwards. Patients were followed up through 2021. Multivariable time-varying Cox models were performed to estimate the adjusted hazards ratios (aHRs) and 95% confidence intervals (CIs) of (1) overall cancers and (2) cancer subtypes according to TNFis exposure versus bDMARDs nonexposure, IL-17is exposure versus bDMARDs nonexposure, and IL-17is exposure versus TNFis exposure. RESULTS: The incident rates of overall cancers during bDMARDs nonexposure, TNFis exposure, and IL-17is exposure were 53.8, 37.6, and 67.3 per 10,000 person-years, respectively. TNFis exposure versus bDMARDs nonexposure was not associated with an increased risk of overall cancers (aHR = 0.9, 95% CI = 0.8-1.1). IL-17is exposure was not associated with an increased risk of overall cancers compared with bDMARDs nonexposure (aHR = 1.2, 95% CI = 0.5-3.0) or TNFis exposure (aHR = 1.3, 95% CI = 0.6-3.3). Similarly, no significant associations were observed between bDMARDs exposures and the risk of cancer subtypes. CONCLUSIONS: In patients with r-axSpA, there was no evidence of increased cancer risk with TNFis and IL-17is exposures compared with bDMARDs nonexposure, suggesting that the use of bDMARDs is safe with respect to cancer risk in patients with r-axSpA.
BACKGROUND: In this case series, we present longitudinal imaging surveillance of 6 cases of osseous sarcoidosis, each of which was effectively treated with tumor necrosis factor (TNF) inhibition. METHODS: We identified 6...BACKGROUND: In this case series, we present longitudinal imaging surveillance of 6 cases of osseous sarcoidosis, each of which was effectively treated with tumor necrosis factor (TNF) inhibition. METHODS: We identified 6 patients from Brooke Army Medical Center with osseous sarcoidosis, who were treated with TNF inhibition and followed with longitudinal imaging studies. Cases of osseous sarcoidosis were defined as having pathologic evidence of noncaseating granulomas on bone biopsy and evidence of osseous lesions on imaging attributable to sarcoidosis by the radiologist, treating clinician, and reviewer. Clinical data were obtained through review of the military electronic medical record. RESULTS: Longitudinal imaging with positron emission tomography/computed tomography, magnetic resonance imaging, and bone scintigraphy assisted in the identification of active disease and clinical remission. Imaging progression of asymptomatic lesions was associated with the eventual development of bone pain 1 to 3 years later. Clinical remission was achieved in all six cases of osseous sarcoidosis and effective doses for TNF inhibition were adalimumab 40 mg subcutaneously every 1 to 2 weeks and infliximab 5 mg/kg every 6 to 8 weeks. Time to complete imaging response ranged from 3 to 8 months. CONCLUSIONS: Longitudinal imaging with bone scintigraphy, positron emission tomography/computed tomography, and magnetic resonance imaging demonstrated several benefits including evaluation for occult disease, surveillance of asymptomatic lesions, and evaluation of treatment response. TNF inhibition with adalimumab or infliximab was successful in all cases, and complete resolution of osseous lesions was demonstrated in 5 of 6 patients. Discontinuation of TNF inhibition led to disease recurrence in 2 cases, which prompted the use of long-term immunosuppressive therapy in all treated patients.
OBJECTIVE: To identify the percentage of patients with incident lupus nephritis who achieved primary efficacy renal response (PERR) and complete renal response (CRR) after 2 years of treatment at a university hospital. M...OBJECTIVE: To identify the percentage of patients with incident lupus nephritis who achieved primary efficacy renal response (PERR) and complete renal response (CRR) after 2 years of treatment at a university hospital. METHODS: An observational study including patients with lupus with a first renal biopsy with nephritis class III, IV, or V, or combined, performed between years 2000 and 2018 and follow-up for over 2 years at a university hospital in Argentina. The proportion of patients with PERR and CRR at 1 and 2 years and the proportion of patients requiring rescue therapy were calculated. Comparison with clinical trials and observational studies was done through literature search. RESULTS: Seventy-five patients were included; 85.3% were female and 36.5 years in average at the time of biopsy, with lupus nephritis class III (n = 7), class IV (n = 59), combination of IV + V (n = 4), and pure V (n = 5). At 1 and 2 years, PERR was achieved in 57 patients (76.0%; 95% confidence interval [CI], 64.8%-84.5%), whereas CRR was achieved in 44 patients (58.7%; 95% CI, 46.9%-69.4%). A proteinuria level <0.7 g/24 hours was observed in 80.0% (95% CI, 69.2%-87.7%) of patients at 2 years and <0.5 g/24 hours in 76.0% (95% CI, 64.8%-84.5%). Fifteen patients (20.0%; 95% CI, 12.3%-30.8%) needed rescue therapy during the first 2 years after biopsy. CONCLUSION: We found higher PERR (76.0%) and CRR (58.7%) at 2 years after the first renal biopsy than those reported in many randomized trials, similar to those reported in observational studies.
OBJECTIVES: The aims of this study were to describe the frequency of pleuropulmonary computed tomography (CT) findings in patients with IgG4-related disease (IgG4-RD) and to compare clinical and laboratory characteristic...OBJECTIVES: The aims of this study were to describe the frequency of pleuropulmonary computed tomography (CT) findings in patients with IgG4-related disease (IgG4-RD) and to compare clinical and laboratory characteristics between patients with and without pleuropulmonary involvement in chest CT. METHODS: This is a study conducted within the IgG4-RD study group of the Argentine Society of Rheumatology (GESAR IgG4) cohort of patients with IgG4-RD. Member centers of the group were requested to submit pulmonary CT scans of the patients. Lung lesions were classified into 4 subtypes: (1) nodules, (2) ground-glass opacity, (3) interstitial-alveolar involvement, and (4) bronchovascular involvement. The presence of pleural involvement and mediastinal adenopathy was also assessed. RESULTS: We examined data from 28 patients, with 17 (61%) showing pulmonary involvement. The subtypes of pulmonary involvement, in order of frequency, were as follows: type 4 (n = 17, 100%), type 3 (n = 10, 59%), type 2 (n = 6, 36%), and type 1 (n = 5, 29%). Pleural lesions were observed in 2 (12%) cases, and mediastinal adenopathies were found in 4 (23%) cases. No demographic, clinical, or laboratory differences were noted between patients with and without pulmonary involvement, except for serum levels of IgG4, which were higher among patients without pulmonary involvement (339.0 [293.1-1592.1 mg/dL] vs 2869 [1156.3-4037.4 mg/dL]; p = 0.022). CONCLUSIONS: In this case series, the predominant subtype of pulmonary involvement was septal thickening and increased bronchovascular tissue. Patients with and without pleuropulmonary involvement exhibited similar clinical and laboratory manifestations, except for serum IgG4, which was higher in patients without pleuropulmonary involvement.
Lee S, Kim S, Segerstrom S
… +2 more, Ferguson PJ, Lenert A
J Clin Rheumatol
· 2025 Mar · PMID 39823219
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OBJECTIVE: The aim of this study was to evaluate and validate the accuracy and performance characteristics of administrative codes in diagnosing autoinflammatory syndromes (AISs). METHODS: We identified potential AIS pat...OBJECTIVE: The aim of this study was to evaluate and validate the accuracy and performance characteristics of administrative codes in diagnosing autoinflammatory syndromes (AISs). METHODS: We identified potential AIS patients from the electronic medical records at the University of Iowa Hospital and Clinics and the Stead Family Children's Hospital using a screening filter based on the 10th edition of the International Classification of Diseases ( ICD-10 ) codes and interleukin-1 antagonists. Diagnostic criteria for adult-onset Still disease, systemic juvenile idiopathic arthritis, Behçet disease (BD), familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome and chronic nonbacterial osteomyelitis (SAPHO-CNO) were reviewed for each patient. Patients who did not meet the diagnostic criteria were categorized as non-AIS. In this cross-sectional study, we calculated the sensitivity, specificity, positive predictive value, negative predictive value, and area under the receiver operating characteristic curve for the ICD codes in diagnosing AIS. RESULTS: Out of the 502 patients with potential AIS, 338 patients (67%) had a true AIS diagnosis. Sensitivity ranged from 80% (SAPHO-CNO) to 100% (BD and FMF), and positive predictive value ranged from 15% (FMF) to 80% (SAPHO-CNO). Specificity ranged from 81% (FMF) to 99% (CAPS and SAPHO-CNO), whereas negative predictive value ranged from 98% (adult-onset Still disease) to 100% (systemic juvenile idiopathic arthritis, BD, FMF, and CAPS). All ICD codes or code combinations for the diagnosis of specific AIS subtypes showed high accuracy with areas under the receiver operating characteristic curve ≥0.89. CONCLUSIONS: This study validated the accuracy of administrative codes for diagnosing AIS, supporting their use in constructing AIS cohorts for clinical outcomes research.
Lieber SB, Nahid M, Navarro-Millán I
… +4 more, Rajan M, Sattui SE, Reid MC, Mandl LA
J Clin Rheumatol
· 2026 Apr · PMID 39823214
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BACKGROUND/OBJECTIVE: Systemic lupus erythematosus (SLE) is associated with increased dementia risk. Whether this association is present among older adults with SLE is unclear. Further, whether individuals with concomita...BACKGROUND/OBJECTIVE: Systemic lupus erythematosus (SLE) is associated with increased dementia risk. Whether this association is present among older adults with SLE is unclear. Further, whether individuals with concomitant SLE and dementia are at increased risk of emergency department (ED) use has not been explored. Using US Centers for Medicare & Medicaid Services (2006-2015) administrative claims data, we (1) quantified long-term all-cause dementia prevalence in adults with SLE ≥65 years of age and (2) determined whether dementia duration is associated with risk of ED visits in a cohort of older adults with SLE relative to comparators. METHODS: Medicare beneficiaries ≥65 years of age with SLE and age- and sex-matched comparators (1:4) with osteoarthritis were identified at baseline (2006). Dementia was considered a time-varying exposure, updated annually. Mixed-effect Poisson regression was used to estimate the effect of dementia duration on risk of multiple ED visits for the study period (January 2006 to September 2015), adjusting for relevant covariates. RESULTS: Baseline dementia prevalence was similar among beneficiaries with SLE (n = 1338 [4.6%]) and non-systemic rheumatic disease (non-SRD) comparators (n = 5352 [5.7%]). Stronger association between dementia duration and ED use was observed in older adults with SLE, including after adjustment for covariates (SLE: incidence rate ratio, 1.10; 95% confidence interval, 1.07-1.13; non-SRD: incidence rate ratio, 1.05; 95% confidence interval, 1.03-1.06). CONCLUSIONS: Although dementia prevalence was similar between older adults with SLE and non-SRD comparators, dementia duration had a greater impact on ED use in aging adults with SLE versus non-SRD comparators. Geriatric assessment may be especially important in older adults with SLE.
Vázquez-Comendador JM, Mateos Seirul-Lo M, Martínez-Urbistondo M
… +8 more, Miguel-Ontañón N, González-Guzmán A, Fernández-Guitián R, Castejón R, Durán-Del Campo P, Tutor P, Mellor-Pita S, Moreno-Torres V
J Clin Rheumatol
· 2025 Mar · PMID 39823212
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OBJECTIVE: To evaluate the impact of the different types of neoplasms and lineages on Sjögren syndrome (SjS) patient mortality. METHODS: Medical records review study based on the Spanish Hospital Discharge Database and t...OBJECTIVE: To evaluate the impact of the different types of neoplasms and lineages on Sjögren syndrome (SjS) patient mortality. METHODS: Medical records review study based on the Spanish Hospital Discharge Database and the International Classification of Diseases, Tenth Revision, Clinical Modification coding list. The neoplasm-related deaths in SjS patients with the general population during the period 2016-2019 were compared. A binary logistic regression analysis considering age, sex, tobacco use, and alcohol use was performed to determine the impact of SjS on the risk of dying from each neoplasm group and lineage. RESULTS: In the period studied, 705,557 in-hospital deaths were certified in Spain, 139,531 (19.8%) from neoplasms. Neoplasms surpassed SjS activity as a cause of mortality in primary SjS patients (11.3% vs. 1.6%, p < 0.001). SjS patients presented higher mortality rates from small bowel carcinoma (0.3% vs. 1.8%; odds ratio [OR], 5.41; 95% confidence interval [CI], 1.33-22) and gynecological neoplasms (6.4% vs. 3%; OR, 2.13; 95% CI, 1.01-4.58), related to ovarian carcinomas (4.6% vs. 1.3%; OR, 3.65; 95% CI, 1.48-8.97), than the general population. Hematological neoplasm-related deaths were more prevalent in SjS patients than in the non-SjS population (18.3% vs. 8.9%; OR, 2.04; 95% CI, 1.25-3.31), mostly attributable to the higher proportion of deaths from B-cell non-Hodgkin lymphoma (8.3% vs. 2.5%; OR, 3.04; 95% CI, 1.54-6.03) and mucosa-associated lymphoid tissue lymphoma (1.8% vs. 0.1%; OR, 70.17; 95% CI, 16.61-296.36). CONCLUSION: SjS patients face an elevated risk of mortality from small bowel neoplasms, ovarian carcinomas, and B-cell and mucosa-associated lymphoid tissue lymphoma compared with the general Spanish population. Apart from developing approaches to mitigate their occurrence, it is crucial to explore thoroughly and consider the implementation of targeted early-detection programs for these specific conditions.
Sood A, Moyer A, Jahangiri P
… +5 more, Mar D, Nitichaikulvatana P, Ramreddy N, Stolyar L, Lin J
J Clin Rheumatol
· 2025 Jun · PMID 39814338
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INTRODUCTION: Large language models (LLMs) such as ChatGPT can potentially transform the delivery of health information. This study aims to evaluate the accuracy and completeness of ChatGPT in responding to questions on...INTRODUCTION: Large language models (LLMs) such as ChatGPT can potentially transform the delivery of health information. This study aims to evaluate the accuracy and completeness of ChatGPT in responding to questions on recombinant zoster vaccination (RZV) in patients with rheumatic and musculoskeletal diseases. METHODS: A cross-sectional study was conducted using 20 prompts based on information from the Centers for Disease Control and Prevention (CDC), the Advisory Committee on Immunization Practices (ACIP), and the American College of Rheumatology (ACR). These prompts were inputted into ChatGPT 3.5. Five rheumatologists independently scored the ChatGPT responses for accuracy (Likert 1 to 5) and completeness (Likert 1 to 3) compared with validated information sources (CDC, ACIP, and ACR). RESULTS: The overall mean accuracy of ChatGPT responses on a 5-point scale was 4.04, with 80% of responses scoring ≥4. The mean completeness score of ChatGPT response on a 3-point scale was 2.3, with 95% of responses scoring ≥2. Among the 5 raters, ChatGPT unanimously scored with high accuracy and completeness to various patient and physician questions surrounding RZV. There was one instance where it scored with low accuracy and completeness. Although not significantly different, ChatGPT demonstrated the highest accuracy and completeness in answering questions related to ACIP guidelines compared with other information sources. CONCLUSIONS: ChatGPT exhibits promising ability to address specific queries regarding RZV for rheumatic and musculoskeletal disease patients. However, it is essential to approach ChatGPT with caution due to risk of misinformation. This study emphasizes the importance of rigorously validating LLMs as a health information source.
BACKGROUND/OBJECTIVES: Sarcopenia associates with poor health-related quality of life (HRQoL). This study aimed to determine prevalence and factors associated with sarcopenia in rheumatoid arthritis (RA) patients. The HR...BACKGROUND/OBJECTIVES: Sarcopenia associates with poor health-related quality of life (HRQoL). This study aimed to determine prevalence and factors associated with sarcopenia in rheumatoid arthritis (RA) patients. The HRQoL between RA patients with and without sarcopenia also was compared. METHODS: This cross-sectional study recruited RA patients, aged ≥20 years, at Chiang Mai University Hospital between May and November 2023. Their skeletal muscle mass (bioelectrical impedance analysis), grip strength (hand dynamometer), and physical performance (gait speed test) were evaluated. Sarcopenia was defined according to the Asian Working Group for Sarcopenia. Patient characteristics, disease activity, physical disability (HAQ-DI), HRQoL (SF-36), nutrition (mini nutrition assessment), and medications were recorded. RESULTS: Of 299 patients (89.0% female; age 61.3 ± 11.6 years; disease duration 13.9 ± 8.6 years), 37.5% had sarcopenia (27.4% severe sarcopenia). In multivariable analysis, body mass index (odds ratio [95% confidence interval] 1.46/1 unit decrease [1.27, 1.68], p < 0.001), disease duration (1.89/10 years increase [1.27, 2.83], p = 0.002), deformity of hands/feet (3.80 [1.50, 9.61], p = 0.005), mini nutritional assessment score (1.21/1 score decrease [1.04, 1.40], p = 0.012), and high C-reactive protein (CRP) (1.94 [1.02, 3.69], p = 0.044) were independent factors associated with sarcopenia. There was no relationship between sarcopenia and disease activity (DAS-28-ESR or CRP) or medication use. RA patients with sarcopenia had higher HAQ score than those without, but potentially lower scores in physical function domain of SF-36 with adjusted mean difference of 0.2 (95% confidence interval 0.03, 0.32, p = 0.022) and -5.9 (-12.24, 0.38, p = 0.066), respectively. CONCLUSIONS: About one third of the Thai RA patients in this center had sarcopenia. Low body mass index, long disease duration, joint deformity, malnutrition, and high CRP were independent factors associated with sarcopenia. Sarcopenia affects physical capabilities and the physical function domain of the HRQoL.
OBJECTIVE: Being Mexico a very diverse developing country, the access to health care varies among geographical regions. We aimed to assess the differences in clinical features and treatment prescription in 3 regions of M...OBJECTIVE: Being Mexico a very diverse developing country, the access to health care varies among geographical regions. We aimed to assess the differences in clinical features and treatment prescription in 3 regions of Mexico using data from the Mexican Adverse Events Registry (BIOBADAMEX). METHODS: We included all BIOBADAMEX patients from 2016 to 2023, compared the prescription patterns, the sociodemographic, clinical, and treatment characteristics between the northern (NR), central (CR), and southern regions (SR), and addressed the treatment survival by calculating hazards ratios (HRs). RESULTS: A total of 1084 patients were included: 389 (35.9%) from the NR, 569 (52.5%) from the CR, and 126 (11.6%) from the SR. The most common diagnosis was rheumatoid arthritis (61.0%). Patients from NR had longer disease duration ( p = 0.03); those from SR had higher BMI ( p < 0.001), DAS28 ( p < 0.001), BASDAI scores ( p = 0.02), and used more frequently glucocorticoids ( p < 0.001). Patients from CR had more comorbidities ( p = 0.001) and more regularly used conventional DMARDs ( p = 0.007). Among patients with at least 2 assessments (n = 441), treatment with bDMARDs and tsDMARDs was discontinued in 247 (56%), 53% due to lack of efficacy. There was no association between the country region and treatment survival, but the main factors related to treatment discontinuation were disease duration (HR, 0.9; 95% confidence interval, 0.6-0.9) and lack of response (HR, 1.4; 95% confidence interval, 1.2-1.7). CONCLUSIONS: In Mexico, patients with rheumatic diseases show regional differences in their clinical features and prescription patterns, which may be related to regional disparities in health care access and sociodemographic characteristics.
OBJECTIVE: For early diagnosis and inquiry into the pathophysiology of Sjögren disease (SjD), salivary secretion and component levels, and salivary glands' uptakes in sialoscintigraphy were examined, in this cross-sectio...OBJECTIVE: For early diagnosis and inquiry into the pathophysiology of Sjögren disease (SjD), salivary secretion and component levels, and salivary glands' uptakes in sialoscintigraphy were examined, in this cross-sectional study. METHODS: Patients who visited our hospital with suspected SjD between April 2016 and March 2020 were checked for unstimulated salivary secretion and β 2 -microglobulin, Na + , and cortisol levels in saliva. The patients who showed any abnormal salivary test results underwent sialoscintigraphy; the uptakes in the parotid, submandibular, and thyroid glands were compared using paired t test. RESULTS: Sixty-five patients (female/male 51/14, 64.5 ± 13.7 years) were checked for saliva. The secretion was 0.39 ± 0.43 mL/min. The component levels were 1.98 ± 1.45 mg/dL for β 2 -microglobulin (n = 61), 15.9 ± 15.3 mEq/L for Na + (n = 61), and 0.20 ± 0.18 μg/dL for cortisol (n = 56). A significant negative correlation was observed between the secretion and each component level. A significant positive correlation was found between the 2 out of the 3 component levels. Sialoscintigraphy of 52 patients showed significantly lower uptake in the submandibular glands than in the parotid glands (submandibular/parotid ratio: 0.51 ± 0.36, left; 0.54 ± 0.39, right). The total uptake in the 4 salivary glands was lower, but not significantly, than that in the thyroid gland. CONCLUSIONS: In patients with suspected SjD, a decreased salivary secretion correlated with a high level of any of β 2 -microglobulin, Na + , and cortisol; the 2 of the 3 levels correlated positively. Sialoscintigraphy showed that the submandibular glands were involved to a greater extent than the parotid glands were. The total salivary gland uptake may be lower than that in thyroid.
Lyme disease is commonly associated with musculoskeletal features, inflammatory and noninflammatory. The precise pathogenesis of the clinical features of this infection are complex and often multiple. A better understand...Lyme disease is commonly associated with musculoskeletal features, inflammatory and noninflammatory. The precise pathogenesis of the clinical features of this infection are complex and often multiple. A better understanding of how Borrelia burgdorferi causes these musculoskeletal manifestations is necessary in order to determine the proper treatment and eschew that which is unlikely to work, often associated with toxicities. The following review seeks to summarize the various immunopathogenic mechanisms that may cause these features of Lyme disease and suggests a series of approaches based on the most likely underlying mechanism(s).
Rege S, Parlett LE, Neikirk A
… +10 more, Iizuka A, Yang Y, Huang C, Crystal S, Davidow A, Haynes K, Gerhard T, Rose CD, Strom BL, Horton DB
J Clin Rheumatol
· 2025 Jan · PMID 39705125
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BACKGROUND/OBJECTIVE: Little is known about the rates of rheumatic disease diagnosis among children during the COVID-19 pandemic. We examined the impact of the pandemic on the diagnosis of juvenile idiopathic arthritis (...BACKGROUND/OBJECTIVE: Little is known about the rates of rheumatic disease diagnosis among children during the COVID-19 pandemic. We examined the impact of the pandemic on the diagnosis of juvenile idiopathic arthritis (JIA) in the United States. METHODS: We performed a historical cohort study using US commercial insurance data (2016-2021) to identify children aged <18 years without prior JIA diagnosis or treatment in the prior ≥12 months. New JIA diagnoses were identified using a combination of ICD-10-CM diagnosis codes, location, and timing of medical services. Crude rates with 95% confidence intervals (CIs) of JIA diagnosis per 100,000 enrolled children per quarter were estimated and stratified by age group, sex, region, JIA type, and uveitis. The incidence rate ratio (95% CI) for JIA diagnosis was estimated using Poisson regression, adjusted for various demographic variables. RESULTS: From 2018-2021, 643 children were diagnosed with JIA. Crude new JIA diagnoses per 100,000 children per quarter dropped from 2.62 (95% CI, 2.39-2.87) prepandemic to 1.94 (95% CI, 1.66-2.25) during the pandemic. Declines in JIA diagnosis were more apparent in the US Northeast and West regions and among children aged 6-11 years. After adjustment for covariates, JIA diagnoses fell by 30% during the pandemic compared with the prior 3 years (IRR, 0.70; 95% CI, 0.59-0.83). CONCLUSIONS: Compared with the prepandemic period, JIA was diagnosed 30% less often during the early pandemic among commercially insured children in the United States. More research is needed to understand the underlying reasons for these changes in JIA diagnosis and more recent trends.
OBJECTIVE: The aim of this study was to identify key parameters of a scoring system to be developed to predict the homozygous M694V genotype in patients clinically diagnosed with familial Mediterranean fever. METHODS: Th...OBJECTIVE: The aim of this study was to identify key parameters of a scoring system to be developed to predict the homozygous M694V genotype in patients clinically diagnosed with familial Mediterranean fever. METHODS: This study was a cross-sectional analysis of 472 pediatric familial Mediterranean fever patients with a homozygous genotype on exon 10, followed at our tertiary pediatric rheumatology clinic between June 2016 and June 2023. The patients were categorized into 2 groups based on their genotypes: group 1 comprised 402 patients (85.2%) with the homozygous M694V genotype, whereas group 2 consisted of 70 patients (14.8%) with other homozygous genotypes. Demographic information, clinical manifestations, MEFV (Mediterranean fever) gene variant analysis, and treatment responses were recorded from the patients' medical charts. RESULTS: The odds ratios for age at disease onset, arthritis, and chest pain were 0.892 (95% confidence interval [CI]: 0.832-0.958, p = 0.002), 2.565 (95% CI: 1.109-5.934, p = 0.028), and 2.351 (95% CI: 1.123-4.922, p = 0.023), respectively. A total of 60.7% of patients in group 1 had arthralgia, and 25% had erysipelas-like erythema, with these percentages were higher in group 1 compared with group 2 (p = 0.002, p = 0.001, respectively). Protracted febrile myalgia syndrome was detected in 1.5% of patients, all of whom had homozygous M694V genotype. Colchicine resistance was detected in 13.3% of patients, and all had homozygous M694V genotype. CONCLUSIONS: This preliminary evaluation identified key parameters for a scoring system designed to predict the homozygous M694V genotype. A multicenter national study will further refine these parameters and develop the scoring system, which will aid clinicians in disease prognosis and therapeutic decision-making.