What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview.

Gaucher and Fabry diseases are lysosomal storage disorders in which deficient enzyme activity leads to pathological accumulation of sphingolipids. These diseases have a broad phenotypic presentation. Musculoskeletal symptoms and pain complaints are frequently reported by patients. Thus, rheumatologists can be contacted by these patients, contributing to the correct diagnosis, earlier indication of appropriate treatment and improvement of their prognosis. This review describes important concepts about Gaucher and Fabry diseases that rheumatologists should understand to improve patients' quality of life and change the natural history of these diseases.

Lyme disease and Whipple's disease: a comprehensive review for the rheumatologist.

Despite their rarity, Lyme disease and Whipple's disease are of significant importance in rheumatology, as both can manifest as chronic arthritis, presenting challenges in the differential diagnosis of inflammatory arthropathies. In Lyme disease, arthritis typically emerges as a late manifestation, usually occurring six months after the onset of erythema migrans. The predominant presentation involves mono- or oligoarthritis of large joints, with a chronic or remitting-recurrent course. Even with appropriate antimicrobial treatment, arthritis may persist due to inadequate immunological control triggered by the disease. In contrast, Whipple's disease may present with a migratory and intermittent seronegative poly- or oligoarthritis of large joints, preceding classic gastrointestinal symptoms by several years. Both disorders, particularly Whipple's disease, can be misdiagnosed as more common autoimmune rheumatic conditions such as rheumatoid arthritis and spondyloarthritis. Epidemiology is crucial in suspecting and diagnosing Lyme disease, as the condition is transmitted by ticks prevalent in specific areas of the United States, Europe, and Asia. On the contrary, the causative agent of Whipple's disease is widespread in the environment, yet invasive disease is rare and likely dependent on host genetic factors. In addition to erythema migrans in Lyme disease and gastrointestinal manifestations in Whipple's disease, neurological and cardiac involvement can further complicate the course of both. This article offers a comprehensive review of the epidemiological, pathophysiological, clinical, and therapeutic aspects of both diseases.

[Rheumatology in crisis : rethinking training and care amidst a growing challenge]. / Rhumatologie en crise : repenser la formation et les soins face à un défi croissant.

Musculoskeletal diseases, on the rise, pose a major challenge in French-speaking Switzerland where the shortage of rheumatologists is worsening, due to the aging of practitioners, a scarcity of emerging professionals, and a trend towards part-time work among young doctors. To address this, increasing rheumatology training positions and enhancing general practitioners' training in these pathologies are essential. The adoption of alternative care models, such as monitoring by specialized nurses and greater involvement of physiotherapists, should be considered. This evolution is crucial for patients, whose quality of life and health depend on the accessibility and effectiveness of adequate care. Therefore, concerted action is indispensable to ensure a sustainable and effective future for rheumatology in French-speaking Switzerland.

Les maladies musculosquelettiques, en augmentation, posent un défi majeur en Romandie, où la pénurie de rhumatologues s'aggrave en raison du vieillissement des praticiens, du manque de relève et de la tendance au travail partiel chez les jeunes médecins. Pour y faire face, augmenter les postes de formation en rhumatologie et renforcer la formation des généralistes dans les pathologies concernées est essentiel. L'adoption de modèles de soins alternatifs, comme le suivi par des infirmiers spécialisés, et une plus grande implication des physiothérapeutes sont à envisager. Cette évolution est cruciale pour les patients, dont la qualité de vie et la santé dépendent de l'efficacité et de l'accessibilité à des soins adéquats. Une action concertée est donc indispensable pour assurer un avenir durable et efficace de la rhumatologie en Romandie.

10-year experience of early arthritis clinic at a tertiary rheumatology center: achievements and challenges.

OBJECTIVES: To characterize patients evaluated in our Early Arthritis Clinic (EAC) in the first ten years; to assess diagnostic delay and its underlying causes; and to evaluate the level of agreement between the referring physician and the rheumatologist regarding the presence of referral criteria. METHODS: Cross-sectional study including patients attending EAC between 2012 and 2021. Demographic data, provenience, final diagnosis, referral criteria and time related to diagnosis delay were retrieved from clinical files and the Portuguese Registry of Rheumatic Patients (reuma.pt). Characteristics of the patients and the time variables were analysed with descriptive statistical analysis. The agreement between the referring physician and rheumatologist regarding the referral criteria was evaluated using Cohen's Kappa. RESULTS: A total of 440 patients (68.9% females, mean age of 54±16.7 years) were referred, mostly from primary care (71.6%). Inflammatory Rheumatic Disease was diagnosed in 65.7% of the patients, with 58.9% classified as early arthritis. The median time from onset of symptoms to referral for EAC was 76 days (IQR 33.5-144.0); the median time from referral to the first EAC was 34 (IQR 19.0-46.0) days, and the median time from onset of symptoms to first EAC was 114.5 (IQR 66.8-190.3) days (16.3 weeks). Only about 10% were observed by a Rheumatologist before six weeks after symptom onset. The level of agreement between the referring physician and the rheumatologist was slight to fair to clinical criteria and moderate to substantial to laboratory criteria. CONCLUSIONS: A significant delay still is observed in patients with early arthritis suspicion, being the time from onset of symptoms to referral is the most relevant. A low agreement between referral and Rheumatologists suggests that non-rheumatologists education/training is needed. Identifying the barriers that prevent the adequate referral of patients is necessary to define strategies to improve it.

Clinical features of patients with hands arthralgia referred from primary care physicians to rheumatologists: A cohort study.

PURPOSE: Early referral of patients with suspicious of rheumatoid arthritis (RA) has an impact on prognosis. Our study aimed to evaluate the clinical characteristics of patients with hands arthralgia who were referred from primary care physicians (PCP) to the rheumatologist. METHODS: A descriptive, observational, prospective cohort study was performed. We included patients who visited a PCP for the first time for hands arthralgia. Demographics and the European Alliance of Associations for Rheumatology criteria for arthralgia suspicious for progression to RA plus seven complementary questions, the time to referral, the pressure needed to provoke pain with an automatic squeeze test machine in the metacarpophalangeal joints of both hands, and the diagnoses established at the last review of medical charts from patients on follow-up were documented. The primary outcome was the referral to a rheumatologist. RESULTS: A total of 109 patients were included. The mean age was 49.9 years, 81.6% were women. 30.3% were referred to the rheumatologist. The time to referral was a median of 38 days. The main clinical characteristics associated with referral to the rheumatologist were the "most severe symptoms are present after midnight" (OR=6.29) and the "difficulty with making a fist" (OR=3.67). An isolated "positive squeeze test of metacarpophalangeal joints" was not associated with a referral to the rheumatologist. CONCLUSIONS: Among patients with hands arthralgia who attended PCP, those with most severe symptoms after midnight and difficulty making a fist were more likely to be referred to the rheumatology clinic. Isolated positive squeeze tests are not a parameter for referral, it should only be performed if arthralgia is clinically suspected.

Resource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disorders.

BACKGROUND: A structured transition of adolescents and young adults with chronic autoinflammatory and autoimmune disorders from the pediatric to the adult health care system is important. To date, data on the time, processes, outcome, resources required for the necessary components of the transition process and the associated costs are lacking. METHODS: Evaluation of resource use and costs in a prospective cohort study of 58 adolescents with chronic autoinflammatory and autoimmune disorders, for the key elements of a structured transition pathway including (i) compilation of a summary of patient history, (ii) assessment of patients' disease-related knowledge and needs, (iii) required education and counseling sessions, (iv) and a transfer appointment of the patient with the current pediatric and the future adult rheumatologist. RESULTS: Forty-nine of 58 enrolled patients (84.5%) completed the transition pathway and were transferred to adult care. The mean time from the decision to start the transition process to the final transfer consultation was 315 ± 147 days. Transfer consultations were performed in 49 patients, including 10 patients jointly with the future adult rheumatologist. Most consultations were performed by the multidisciplinary team with a median of three team members and lasted 65.5 ± 21.3 min. The cumulative cost of all consultation and education sessions performed including the transfer appointment was 283 ± 164 Euro per patient. In addition, the cost of coordinating the transition process was 57.3 ± 15.4 Euro. CONCLUSIONS: A structured transition pathway for patients with chronic autoinflammatory and autoimmune disorders is resource and time consuming and should be adequately funded.

Pregnancy in antiphospholipid syndrome: what should a rheumatologist know?

This review focuses on the management of reproductive issues in women who have antiphospholipid syndrome (APS) or are carriers of antiphospholipid antibodies (aPL). The importance of aPL detection during preconception counselling relies on their pathogenic potential for placental insufficiency and related obstetric complications. The risk of adverse pregnancy outcomes can be minimized by individualized risk stratification and tailored treatment aimed at preventing placental insufficiency. Combination therapy of low-dose acetylsalicylic acid and heparin is the mainstay of prophylaxis during pregnancy; immunomodulation, especially with hydroxychloroquine, should be considered in refractory cases. Supplementary ultrasound surveillance is useful to detect fetal growth restriction and correctly tailor the time of delivery. The individual aPL profile must be considered in the stratification of thrombotic risk, such as during assisted reproduction techniques requiring hormonal ovarian stimulation or during the follow-up after pregnancy in order to prevent the first vascular event.

Differences in reproductive health discussions in an urban Hispanic population with SLE: lessons from the field.

OBJECTIVE: Management of reproductive health-related issues is crucial for patients with SLE, given this is a disease that primarily affects women of childbearing age. Little is known as to how the 2020 American College of Rheumatology (ACR) Reproductive Health in Rheumatic Disease Guideline is experienced by an underserved, primarily Hispanic population and their physicians as it relates to pregnancy planning and contraception conversations. Given this population experiences high rates of unplanned pregnancies and worse SLE outcomes compared with the non-Hispanic white population, it is crucial to understand how reproductive health is discussed in this setting. METHODS: A survey based on the 2020 ACR Reproductive Health Guideline was created and distributed in English and Spanish in the outpatient setting to 151 patients with SLE to determine patients' beliefs, experiences and limitations with reproductive health discussions. Associations between categorical variables were evaluated using Pearson's χ2 or Fisher's exact test, as appropriate, and differences in continuous variables were assessed using Wilcoxon rank-sum test. RESULTS: English language survey respondents were significantly more likely to report having conversations regarding contraception, pregnancy planning and peripartum medication use than the Spanish survey respondents. Two-thirds of all respondents relied on the rheumatologist as a top source of reproductive health information. CONCLUSION: Disparities exist regarding reproductive health conversations on multiple topics between English-speaking and Spanish-speaking populations with SLE. Further understanding is needed to clarify why reproductive health conversations occur at lower frequencies in Spanish-speaking SLE populations.

Classifying systemic lupus erythematosus using laboratory items alone: a preliminary study.

OBJECTIVES: To explore the performance of laboratory items alone in systemic lupus erythematosus (SLE) classification. METHODS: Our cohort consisted of 352 and 385 (control) patients with and without SLE. This study evaluated the performance of the American College of Rheumatology (ACR)-1997, Systemic Lupus International Collaborating Clinics (SLICC)-2012, European League Against Rheumatism (EULAR)/ACR-2019, and Systemic Lupus Erythematosus Risk Probability Index (SLERPI) using laboratory items alone, including blood and urine test results. RESULTS: The median ratio of laboratory items/total items was 66.7%, 75.0%, 60.4%, and 77.4% in ACR-1997, SLICC-2012, EULAR/ACR-2019, and SLERPI, respectively. After including laboratory items alone, the sensitivity of ACR-1997, SLICC-2012, EULAR/ACR-2019, and SLERPI was 31.3% (95% confidence interval [CI]: 26.4%-36.4%), 79.8% (95% CI: 75.3%-83.9%), 75.9% (95% CI: 71.0%-80.2%), and 85.2% (95% CI: 81.1%-88.8%), respectively. We referenced the SLERPI and removed the additional restrictions, i.e., SLICC-2012 criteria only needs to fulfill at least four items (mSLICC-2012) and EULAR/ACR-2019 criteria needs to have ≥ 10 points (mEULAR/ACR-2019) to qualify for SLE classification. The mSLICC-2012 and mEULAR/ACR-2019 criteria, including laboratory items alone, newly identified 13 and 25 patients, respectively. Based on laboratory items alone, the combination of mSLICC-2012, mEULAR/ACR-2019, and SLERPI identified 348 patients with an improved sensitivity of 90.6% (95% CI: 87.1%-93.5%). Patients, who were classified according to the mEULAR/ACR-2019 criteria, all met the other criteria. CONCLUSION: Incorporating laboratory items alone was clinically feasible to help identify SLE. SLERPI and SLICC-2012, using laboratory items alone, were more worthwhile to promote in the clinic compared with EULAR/ACR-2019. Key Points • Laboratory items play a crucial role in the SLE classification criteria, and incorporating laboratory items alone was clinically feasible to help in the identification of SLE. • The SLERPI and SLICC-2012, using laboratory items alone, were more worthwhile to promote in the clinic compared with EULAR/ACR-2019, and the combination of the two could further improve the sensitivity. • The relative simplicity of evaluating laboratory indices may help nonrheumatologists and inexperienced rheumatologists to identify SLE more quickly, thereby reducing the risk of delayed diagnosis in patients.

Health personnel perception about central sensitivity syndrome-fibromyalgia patients.

BACKGROUND AND OBJECTIVES: Fibromyalgia is characterized by musculoskeletal pain and asthenia of chronic course. Fibromyalgia patients are often a challenge for the health care community as a whole. Existing studies are often limited to the opinion of rheumatologists or family physicians. With this study we seek to know what are the actions, perceptions and knowledge of health professionals as a whole when caring for patients with this disease. MATERIALS AND METHODS: Descriptive cross-sectional study, by means of a self-administered and anonymous survey. Distributed mainly in hospital wards and primary care centers. Statistical analysis of the variables collected was performed (p < 0.05). RESULTS: 200 surveys were collected, most of them physicians 63.5% (n = 127) or nurses 25.5% (n = 51). 71% of physicians reported using the WHO analgesic scale. 53% (n = 59) use NSAIDs or Paracetamol. Antidepressants are the third drug of choice. Most believe that the referral specialists should be rheumatologists or primary care physicians, a similar percentage, that management should be multidisciplinary. 52% feel discouraged or annoyed when dealing with these patients. Physicians have more negative connotations and believe that the care that the patient receives is mostly influenced by the diagnosis of fibromyalgia, compared to nurses and other professionals. CONCLUSIONS: Our study shows that the lack of knowledge and therapeutic tools generates, to a large extent, frustration and discomfort in health personnel. It is important to develop new approaches to this entity.

Can rheumatologists unequivocally diagnose axial spondyloarthritis in patients with chronic back pain of less than 2 years duration? Primary outcome of the 2-year SPondyloArthritis Caught Early (SPACE) cohort.

OBJECTIVES: To investigate the prevalence of axial spondyloarthritis (axSpA) in patients with chronic back pain (CBP) of less than 2 years (2y) duration referred to the rheumatologist, the development of diagnosis over time, and patient characteristics of those developing definite (d-)axSpA over 2y. METHODS: We analysed the 2y data from SPondyloArthritis Caught Early, a European cohort of patients (<45 years) with CBP (≥3 months, ≤2y) of unknown origin. The diagnostic workup comprised evaluation of clinical SpA features, acute phase reactants, HLA-B27, radiographs and MRI (sacroiliac joints and spine), with repeated assessments. At each visit (baseline, 3 months, 1y and 2y), rheumatologists reported a diagnosis of axSpA or non-axSpA with level of confidence (LoC; 0-not confident at all to 10-very confident). MAIN OUTCOME: axSpA diagnosis with LoC≥7 (d-axSpA) at 2y. RESULTS: In 552 patients with CBP, d-axSpA was diagnosed in 175 (32%) at baseline and 165 (30%) at 2y. Baseline diagnosis remained rather stable: at 2y, baseline d-axSpA was revised in 5% of patients, while 8% 'gained' d-axSpA. Diagnostic uncertainty persisted in 30%. HLA-B27+ and baseline sacroiliitis imaging discriminated best 2y-d-axSpA versus 2y-d-non-axSpA patients. Good response to non-steroidal anti-inflammatory drugs and MRI-sacroiliitis most frequently developed over follow-up in patients with a new d-axSpA diagnosis. Of the patients who developed MRI-sacroiliitis, 7/8 were HLA-B27+ and 5/8 male. CONCLUSION: A diagnosis of d-axSpA can be reliably made in nearly one-third of patients with CBP referred to the rheumatologist, but diagnostic uncertainty may persist in 5%-30% after 2y. Repeated assessments yield is modest, but repeating MRI may be worthwhile in male HLA-B27+ patients.

Towards a standardized program of transitional care for adolescents with juvenile idiopathic arthritis for Turkey: a national survey study.

BACKGROUND: Juvenile idiopathic arthritis (JIA) is a prevalent childhood chronic arthritis, often persisting into adulthood. Effective transitional care becomes crucial as these patients transition from pediatric to adult healthcare systems. Despite the concept of transitional care being recognized, its real-world implementation remains inadequately explored. This study aims to evaluate the thoughts and practices of healthcare providers regarding transitional care for JIA patients. METHODS: A cross-sectional survey was conducted among pediatric and adult rheumatologists in Turkey. Based on the American Academy of Pediatrics' six core elements of transitional care, the survey included 86 questions. The respondents' demographic data, attitudes towards transitional care, and practical implementation were assessed. RESULTS: The survey included 48 rheumatologists, with 43.7% having a transition clinic. The main barriers to establishing transition programs were the absence of adult rheumatologists, lack of time, and financial constraints. Only 23.8% had a multidisciplinary team for transition care. Participants agreed on the importance of coordination and cooperation between pediatric and adult healthcare services. The timing of the transition process varied, with no consensus on when to initiate or complete it. Participants advocated for validated questionnaires adapted to local conditions to assess transition readiness. CONCLUSIONS: The study sheds light on the challenges and perspectives surrounding transitional care for JIA patients in Turkey. Despite recognized needs and intentions, practical implementation remains limited due to various barriers. Cultural factors and resource constraints affect the transition process. While acknowledging the existing shortcomings, the research serves as a ground for further efforts to improve transitional care and ensure better outcomes for JIA patients transitioning into adulthood.

Psoriatic arthritis and COVID-19: a new challenge for rheumatologists and dermatologists.

COVID-19 has changed the global health system and has great impact on different types of medical specialties including, dermatology and rheumatology. This point is important because although these two specialties are distinct subfields of medicine, there is some overlap between them. The overlap can be described by a number of rheumatic diseases that have cutaneous manifestations and vice versa. A good example of this is psoriatic arthritis because, in up to 42% of people, cutaneous lesions and arthritis coexist. Interestingly, emerging reports have described the possible occurrence of psoriasis and psoriatic arthritis in COVID-19 patients. Although the exact mechanism is unclear, some common pathophysiological mechanisms may contribute to disease pathogenesis. Therefore, elucidation of shared pathological pathways that connect these diseases will be valuable for better diagnosis and the complete treatment of COVID-19 patients with cutaneous and rheumatologic diseases.

Pre-assessment of patients with suspected axial spondyloarthritis combining student-led clinics and telemedicine: a qualitative study.

OBJECTIVE: Patients referred to rheumatologists are currently facing months of inefficient waiting time due to the increasing demand and rising workforce shortage. We piloted a pre-assessment of patients with suspected axial spondyloarthritis (axSpA) combining student-led clinics and telemedicine (symptom assessment, symptom monitoring and at-home capillary self-sampling) to improve access to rheumatology care. The aim of this study was to explore (1) current challenges accessing axSpA care and (2) patients' first-hand experiences. METHODS: Embedded within a clinical trial, this study was based on qualitative interviews with patients with suspected axSpA (n = 20). Data was analysed via qualitative content analysis. RESULTS: Student-led clinics were perceived as high-quality care, comparable to conventional rheumatologist-led visits. Patients expressed that their interactions with the students instilled a sense of trust. History-taking and examinations were perceived as comprehensive and meticulous. Telehealth tools were seen as empowering, offering immediate and continuous access to symptom assessment at home. Patients reported a lack of specificity of the electronic questionnaires, impeding accurate responses. Patients requested a comments area to supplement questionnaire responses. Some patients reported receiving help to complete the blood collection. CONCLUSION: Patients' access to rheumatology care is becoming increasingly burdensome. Pre-assessment including student-led clinics and telemedicine was highly accepted by patients. Patient interviews provided valuable in-depth feedback to improve the piloted patient pathway.

Does remission in systemic lupus erythematosus according to the 2021 DORIS definition match the treating rheumatologist's judgement?

OBJECTIVES: To assess agreement between the 2021 Definition Of Remission In SLE (DORIS) and physician-judged lupus activity. METHODS: A cross-sectional analysis was conducted of data from a Spanish prospective multicentre study of SLE patients. We applied the 2021 DORIS criteria and assessed whether remission status based on this definition agreed with remission as per physician clinical judgement and reasons for disagreement between them. RESULTS: Out of 508 patients [92% women; mean age (s.d.): 50.4 years (13.7)] studied, 267 (54.4%) met the criteria for 2021 DORIS remission. Based on physicians' judgement, 277 (55.9%) patients were classified as in remission or serologically active clinically quiescent (SACQ). The overall rate of agreement between these assessments was 81.2% (95% CI: 79.9, 82.9%) with a Cohen's kappa of 0.62 (0.55-0.69). Overall, 46 (9.1%) patients were classified as in remission/SACQ by rheumatologists but did not meet the 2021 DORIS criteria for remission. The main reasons for discrepancies were a clinical SLE Disease Activity Index (cSLEDAI) score >0 in 39 patients, a Physician Global Assessment score >0.5 in five patients, and prednisone >5 mg/day in another five patients. CONCLUSIONS: The 2021 DORIS remission is an achievable target in clinical practice. There is substantial agreement between the DORIS definition and physician-judged remission. The discordance was mainly due to physicians classifying some patients with ongoing mild disease activity as in remission. Thus, the standardized DORIS definition should be used to define the target in a treat-to-target strategy for the management of SLE.

A prospective survey on therapeutic inertia in psoriatic arthritis (OPTI'PsA).

OBJECTIVES: Clinical inertia, or therapeutic inertia (TI), is the medical behaviour of not initiating or intensifying treatment when recommended by clinical recommendations. To our knowledge, our survey is the first to assess TI around psoriatic arthritis (PsA). METHODS: Eight hundred and twenty-five French rheumatologists were contacted via email between January and March 2021 and invited to complete an online questionnaire consisting of seven clinical vignettes: five cases ('oligoarthritis', 'enthesitis', 'polyarthritis', 'neoplastic history', 'cardiovascular risk') requiring treatment OPTImization, and two 'control' cases (distal interphalangeal arthritis, atypical axial involvement) not requiring any change of treatment-according to the most recent PsA recommendations. Rheumatologists were also questioned about their routine practice, continuing medical education and perception of PsA. RESULTS: One hundred and one rheumatologists completed this OPTI'PsA survey. Almost half the respondents (47%) demonstrated TI on at least one of the five vignettes that warranted treatment optimization. The complex profiles inducing the most TI were 'oligoarthritis' and 'enthesitis' with 20% and 19% of respondents not modifying treatment, respectively. Conversely, clinical profiles for which there was the least uncertainty ('polyarthritis in relapse', 'neoplastic history' and 'cardiovascular risk') generated less TI with 11%, 8% and 6% of respondents, respectively, choosing not to change the current treatment. CONCLUSION: The rate of TI we observed for PsA is similar to published data for other chronic diseases such as diabetes, hypertension, gout or multiple sclerosis. Our study is the first to show marked clinical inertia in PsA, and further research is warranted to ascertain the reasons behind this inertia.

Diagnostic accuracy of a large language model in rheumatology: comparison of physician and ChatGPT-4.

Pre-clinical studies suggest that large language models (i.e., ChatGPT) could be used in the diagnostic process to distinguish inflammatory rheumatic (IRD) from other diseases. We therefore aimed to assess the diagnostic accuracy of ChatGPT-4 in comparison to rheumatologists. For the analysis, the data set of Gräf et al. (2022) was used. Previous patient assessments were analyzed using ChatGPT-4 and compared to rheumatologists' assessments. ChatGPT-4 listed the correct diagnosis comparable often to rheumatologists as the top diagnosis 35% vs 39% (p = 0.30); as well as among the top 3 diagnoses, 60% vs 55%, (p = 0.38). In IRD-positive cases, ChatGPT-4 provided the top diagnosis in 71% vs 62% in the rheumatologists' analysis. Correct diagnosis was among the top 3 in 86% (ChatGPT-4) vs 74% (rheumatologists). In non-IRD cases, ChatGPT-4 provided the correct top diagnosis in 15% vs 27% in the rheumatologists' analysis. Correct diagnosis was among the top 3 in non-IRD cases in 46% of the ChatGPT-4 group vs 45% in the rheumatologists group. If only the first suggestion for diagnosis was considered, ChatGPT-4 correctly classified 58% of cases as IRD compared to 56% of the rheumatologists (p = 0.52). ChatGPT-4 showed a slightly higher accuracy for the top 3 overall diagnoses compared to rheumatologist's assessment. ChatGPT-4 was able to provide the correct differential diagnosis in a relevant number of cases and achieved better sensitivity to detect IRDs than rheumatologist, at the cost of lower specificity. The pilot results highlight the potential of this new technology as a triage tool for the diagnosis of IRD.