Para médicos · reumatologia
Resumos de artigos, podcasts e newsletters sobre Doença Mista do Tecido Conjuntivo, para atualização médica.
A newsletter destaca a revisão do índice de dano (SDI) no Lúpus Eritematoso Sistêmico, que busca maior precisão clínica ao remover itens de atividade inflamatória e incluir critérios de gravidade. Além disso, apresenta novos guidelines da EULAR para vasculites e polimialgia reumática, e discute evidências recentes sobre terapias biológicas e inibidores de fosfodiesterase em doenças autoimunes.
Protein-losing enteropathy (PLE) is characterized by excessive gastrointestinal protein loss, yet systematic comparative studies across etiologies remain limited. This study aimed to characterize the confirmed PLE cohort in our center, with a focused comparison between connective tissue disease-associated PLE (CTD-PLE) and lymphatic drainage disorder-associated PLE (LDD-PLE), describe follow-up observations, and explore routine clinical indicators that may assist etiologic differentiation. This retrospective study included 146 patients admitted to Beijing Shijitan Hospital between January 2014 and December 2024 with PLE confirmed by 99mTc-HSA scintigraphy. Patients were classified as CTD-PLE or LDD-PLE according to the final clinical diagnosis. Clinical features, laboratory findings, and available follow-up data were analyzed, and logistic regression together with receiver operating characteristic (ROC) analyses were used to explore factors associated with CTD-PLE. The cohort included 146 patients (median onset age 26 years; 30 CTD-PLE and 116 LDD-PLE). Edema (84.2%) and serous cavity effusions (76.7%) were the most frequent manifestations. Comparative analysis showed that CTD-PLE patients were older, predominantly female, and had more frequent thrombosis and higher D-dimer levels than LDD-PLE patients. CTD-PLE also showed distinct laboratory features, including higher total cholesterol, triglycerides, and globulin levels, whereas LDD-PLE was associated with lower lymphocyte counts and more frequent diarrhea. Multivariate analysis identified age at onset, Hb, and total cholesterol as independent predictors of CTD-PLE. The three-variable model showed good apparent discrimination in this single-center cohort (AUC = 0.890), while C3 showed the best single-variable discrimination. Among patients with available follow-up, 19/20 CTD-PLE patients receiving glucocorticoids plus immunosuppressants achieved symptom remission with a median ALB improvement of 9.5 (3.8, 19.6) g/L, whereas 23/43 surgically treated LDD-PLE patients achieved symptom remission with a median ALB improvement of 2.0 (-0.5, 5.8) g/L. PLE with different etiologies
A newsletter destaca como a aptidão cardiorrespiratória pode atenuar o declínio cognitivo e discute o potencial dos monócitos como marcadores acessíveis para doença pulmonar intersticial na artrite reumatoide. Além disso, correlaciona a inflamação intestinal à progressão radiográfica na espondiloartrite axial e analisa fatores que predizem a evolução da doença mista do tecido conjuntivo para outras patologias autoimunes.
Mixed connective tissue disease (MCTD) is characterized by positivity for anti-U1-RNP antibodies and a combination of symptoms of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and inflammatory myositis (IIM). The aim of this study was to elucidate the similarities and differences in gene expression profiles of peripheral blood immune cells between MCTD and its related diseases, as well as their association with clinical parameters. Transcriptome analysis was performed in peripheral blood immune cells from 19 MCTD patients, 58 SLE patients, 63 SSc patients, 64 IIM patients, and 79 healthy controls (HC), comprising a total of 283 individuals across 27 immune cell subsets. Differential gene expression and enrichment analyses were conducted to compare MCTD with related diseases and HC. The association between dysregulated pathways in MCTD and clinical parameters was assessed. Gene modular and machine learning analyses were employed to identify related gene signatures in other immune cells. MCTD exhibited a higher number of differentially expressed genes (DEGs) in Th1 cells compared to other related diseases and HC. Although the DEGs between MCTD and SLE were limited, Th1 cells in MCTD shared common DEGs with each disease, and enrichment analysis revealed upregulation of cell cycle pathways in MCTD Th1 cells. This gene signature showed upregulation in high disease activity and in anti-U1-RNP antibody positive patients in related diseases, and it was associated with severity of Raynaud's phenomenon. Furthermore, the Th1 cell cycle signature correlated with interferon signature in other immune cells. Transcriptome analysis of peripheral blood immune cells revealed that MCTD Th1 cells share many transcriptional features with those in SLE, yet display distinctive cell cycle signature. Particularly, upregulation of cell cycle pathways was associated with characteristic clinical features of MCTD,
To examine national trends and disparities in cardiovascular mortality associated with systemic connective tissue disorders (CTDs) in the United States from 1999 to 2020. We analyzed mortality data from the CDC WONDER database. Deaths were included where CTD (ICD-10: M05, M06, M30-M35) was the underlying cause and cardiovascular disease was a contributing cause. Age-adjusted mortality rates (AAMRs) per 1 000 000 were calculated using the 2000 US Standard Population. Joinpoint regression identified annual and average annual percentage changes. Analyses were stratified by sex, race/ethnicity, census region, and urbanization. Disease subgroup and state-level analyses were performed. Between 1999 and 2020, 47 752 cardiovascular deaths occurred among individuals with systemic CTDs. The national AAMR declined from 14.4 to 8.2 per 1 000 000 (AAPC: -2.68%, 95% CI: -2.89 to -2.47, p < 0.001). Females had consistently higher mortality than males (average AAMR: 13.5 vs. 5.9 per 1 000 000; p < 0.001). Non-Hispanic Black individuals had the highest rates (average AAMR: 14.9 per 1 000 000), with widening disparities after 2008. Rural areas had higher mortality than urban areas (average AAMR: 11.4 vs. 9.9 per 1 000 000; p = 0.01). Subgroup analyses revealed heterogeneous trends across CTD subtypes, with SLE showing the slowest improvement (AAPC: -1.87%) and dermatomyositis the steepest decline (AAPC: -4.98%). State-level AAMRs ranged 2.2-fold, from 6.3 (District of Columbia) to 13.6 (Montana) per 1 000 000. Cardiovascular mortality associated with systemic CTDs has declined significantly over two decades; however, persistent racial disparities, urban-rural differences, heterogeneous disease-specific trends, and substantial geographic variation underscore the need for targeted, equitable interventions in this high-risk population.
To evaluate the diagnostic performance of BioPlex 2200 multiplex immunoassay (BI) for detecting antinuclear antibodies (ANA), compared with the gold standard, the indirect immunofluorescence assay (IIF), as a screening methodology for autoimmune diseases within a general population. Cross-sectional, database-based analysis of the Clalit Health Services nationwide registry. Data were extracted from the Clalit Health Services database between 2014 and 2023. We included adult outpatients without a known rheumatic disease who underwent both IIF and BI testing simultaneously, ordered for nonspecific signs and symptoms primarily by primary-care physicians. Among the 391,366 individuals tested, 67% were female, and the median age at testing was 49 years. Annual ANA testing volume increased from 23,802 in 2014 to 76,898 in 2023 (3.2-fold). Of the total, 33,234 (8.4%) tests were false negatives (BI-negative while IIF-positive), 42,021 (10.7%) were false positives (BI-positive while IIF-negative), 302,439 (77.2%) were true negatives, and 13,672 (3.5%) were true positives. BI demonstrated a sensitivity of 29.1% (95% CI: 28.7-29.6) and a specificity of 87.8% (95% CI: 87.7-87.9). The positive predictive value was 24.5% and the negative predictive value 90.1%. Our findings do not support the use of the BI multiplex immunoassay as a primary ANA screening tool in the primary-care setting. On the basis of these findings, the Clalit Health Services laboratory network discontinued simultaneous IIF and BI testing. The BI showed low sensitivity despite relatively high specificity, resulting in a substantial proportion of false-negative results compared with IIF. These findings indicate that it is not suitable as a primary screening tool for ANA in the primary-care setting.
The reported incidence and mortality of connective tissue diseases (CTDs) in England has been inconsistent in the literature. Our objective was to describe current trends in the incidence and mortality of systemic lupus erythematous (SLE), Sjögren's disease (SjD), systemic sclerosis (SSc), idiopathic inflammatory myopathies (IIM) and mixed connective tissue disease (MCTD). We conducted a retrospective population-level study using primary care records in England via the Clinical Practice Research Datalink. We included individuals ≥18 years old with new CTD diagnoses between 2012 and 2023. Our outcomes were incidence and all-cause mortality, which included age-standardized mortality rates (ASMRs), standardized mortality ratios and hazards over time using flexible parametric models. There was a total of 22 829 incident CTD diagnoses (81.1% female, median age 57). The age and sex-standardized incidence of SLE and SSc fell over the study period 2012-2023 (SLE: 4.32-3.29 per 100 000 person years [py] and SSc: 2.33-1.86 per 100 000 py), whereas SjD and MCTD incidence remained relatively stable. In contrast, IIM diagnoses rose from 3.23 to 4.31 per 100 000 py. ASMRs across the study period were highest for IIM (27.83 per 1000 py), followed by SSc (24.43), SLE (16.74), MCTD (16.27) and lowest for SjD (9.70). Our findings indicated a fall in the incidence of SLE, a simultaneous rise in IIM incidence, and high all-cause mortality within IIM and SSc cohorts. Our study acknowledges the changing landscape of CTDs in England and will aid healthcare resource planning for this vulnerable population.
Systemic lupus erythematosus (SLE), a systemic autoimmune disease with heterogeneous severity, poses a challenge in classifying patients due to its dynamic phenotype. We therefore aimed to identify clinical clusters at diagnosis and at the last available visit to define subgroups with different disease trajectories. This retrospective study included 278 SLE patients fulfilling the 2019 EULAR/American College of Rheumatology classification criteria. Data were extracted from the patient's medical record, encompassing demographic, clinical and immunological features. Two hierarchical clustering analyses were performed: one at diagnosis and the other at the last available visit based on 23 clinical manifestations. We assessed the distribution of autoantibodies among clusters, and survival analyses compared prognosis using the Cox regression model. Three symptom clusters were identified at diagnosis and confirmed at the last available visit, with consistent clinical profiles. The largest, clusters 1/1', exhibited early articular (95.3%; p=0.0043) and mucocutaneous (58.7%; p=0.0031) symptoms with the best survival rate. Clusters 2/2' displayed the most severe phenotype, including renal involvement (62.2%; p<0.0001), positivity for anti-DNA (90.0%; p=0.0151) and anti-Sm (34.4%; p<0.0001) autoantibodies, and worse prognosis. Clusters 3/3' exhibited a high proportion of SLE patients fulfilling the definition of mixed connective tissue disease (MCTD) (50.0%; p<0.0001) with anti-U1-RNP 70 kDa autoantibodies (87.5%; p<0.0001). Clusters 1 and 2 remained stable during follow-up, cluster 2 even expanding over time, while over half of cluster 3 patients transitioned to a different subgroup. We identified a distinct MCTD phenotype within SLE patients, a severe SLE phenotype with poor prognosis, and a third group of SLE patients with lower visceral involvement. Clusters remained stable over time, providing insights into disease progression.
Mixed connective tissue disease (MCTD) is a rare entity in children. There is a paucity of studies on juvenile-onset MCTD (jMCTD) worldwide especially from Southeast Asia. To describe clinical and laboratory features of jMCTD diagnosed at pediatric rheumatology centers across India. A predesigned detailed case proforma in an excel format was prepared and was sent to all the Pediatric Rheumatology centers in India. Eleven centers provided the clinical and laboratory data of their jMCTD patients, which was then compiled and analyzed in detail. Thirty-one jMCTD patients from 11 centers were included in the study. Our cohort had 27 females and four male patients over 12 months (August 2021 to July 2022). The median age at presentation was 12 years (range 5-18 years) and the median duration of symptoms was 24 months at diagnosis (range 2-96 months). The common features included arthritis (90%), malar rash (70.9%), and Raynaud's phenomenon (70.9%). At a mean follow-up of 43 months (range 1-168 months), 45% of them were in remission. There were two deaths reported, due to macrophage activation syndrome and sepsis respectively. We present the largest multicenter experience on jMCTD from the Indian subcontinent. The study's findings serve as a crucial stepping stone toward unraveling the complexities of jMCTD and improving patient care and management strategies.
This study aimed to investigate the relationship between specific autoantibodies, particularly anti-Ro52, and the development of interstitial lung disease (ILD) in patients with autoimmune diseases (AID), with the goal of identifying potential biomarkers for the early detection and management of ILD. A retrospective cohort study was conducted at Peking Union Medical College Hospital, involving 2,021 AID patients who underwent antinuclear antibody (ANA) testing between 2017 and 2019. Clinical and serological data were collected to assess the presence of ILD and its association with specific autoantibodies. Least absolute shrinkage and selection operator (LASSO) regression was used to identify predictors of ILD. Among the 2,021 patients, ILD prevalence varied across AID subgroups, with the highest rates observed in idiopathic inflammatory myopathies (IIM), overlap syndrome, and systemic sclerosis. Anti-Ro52 was significantly more frequent in IIM patients with ILD compared to those without ILD (83.0% vs. 37.8%, p<0.0001). Anti-RNP was detected at a significantly higher rate in lupus-ILD patients. Additionally, positivity rates of anti-SSA/Ro60 and anti-CENP B were inversely associated with ILD in Sjögren's disease and systemic sclerosis, respectively. LASSO regression analysis identified anti-Ro52, age, and anti-MDA5 as significant predictors of ILD development in IIM. Anti-Ro52 positivity was associated with a more than two-fold increased risk of ILD progression in mixed connective tissue disease. Anti-Ro52, together with age and anti-MDA5, was identified as a significant predictor of ILD in IIM patients. This study highlights the potential of autoantibodies as biomarkers for early detection and management of ILD in AID patients.
Systemic Lupus Erythematosus (SLE) presents a significant diagnostic challenge for clinicians due to its diverse clinical manifestations and overlap with other autoimmune conditions. Large Language Models (LLMs) are currently regarded as having the potential to assist clinicians in expediting decision-making. This study aimed to evaluate the performance of four LLMs in differentiating SLE from clinically mimicking conditions. A retrospective diagnostic accuracy study was conducted involving 100 patients at a rheumatology center: 50 patients with confirmed SLE and 50 non-SLE patients with conditions including rheumatoid arthritis, systemic sclerosis, axial spondyloarthritis, psoriatic arthritis, myositis, ANCA-associated vasculitis, mixed connective tissue disease, undifferentiated connective tissue disease, and fibromyalgia. Four LLMs were evaluated: Deepseek, ChatGPT 4.0, Claude Sonnet 4, and Gemini. The 2019 European Alliance of Associations for Rheumatology/American College of Rheumatology (EULAR/ACR) classification criteria were applied. Diagnostic accuracy, positive predictive value (PPV), negative predictive value (NPV), and Area Under the Receiver Operating Characteristic Curve (AUC) were calculated. IBM SPSS Statistics version 25 was used for all analyses. Gemini achieved the highest performance score, with an accuracy of 96% (95% CI: 91.2-100.0%), sensitivity of 94% (95% CI: 89.3-98.7%), specificity of 98% (95% CI: 93.1-100.0%), and an AUC of 0.960. ChatGPT 4.0 and Claude Sonnet 4 exhibited comparable accuracy. Deepseek recorded the lowest performance score. Gemini demonstrated significant potential to assist clinicians in differentiating SLE from mimicking conditions. Nevertheless, prospective validation in real-world clinical settings is required before these tools can be reliably integrated into clinical practice.
Mixed connective tissue disease (MCTD) has long been debated as an early nonspecific phase/symptom of differentiated connective tissue diseases (dCTD), similarly to interstitial pneumonia with autoimmune features (IPAF) and very early diagnosis of systemic sclerosis (SSc) (VEDOSS). We aimed to evaluate the predictive value of IPAF, VEDOSS and dCTD classification criteria variables in MCTD patients. We conducted an observational study within the French MCTD cohort. IPAF, VEDOSS and current dCTD classification criteria were used to classify patients. Three hundred and twenty-four MCTD patients were included and followed for 8 (3.3-13) years. Among them, 111 (34.3%) progressed into a dCTD, that is, 50 (15.4%) SSc, 40 (12.3%) systemic lupus erythematosus (SLE) and 11 (3.4%) Sjögren's disease. At diagnosis, 38 (11.7%) patients fulfilled IPAF criteria, among which 15 (39.5%) progressed into a dCTD (vs 75 (26.2%) in patients who did not fulfil IPAF criteria; p=0.09). At diagnosis, 293 (90.4%) patients fulfilled VEDOSS criteria but did not progress significantly more frequently to SSc than MCTD patients without VEDOSS criteria (46 (15.7%) vs 4 (12.9%); p=0.8). At baseline, SSc classification criteria did not predict evolution toward SSc, whereas antiphospholipid antibodies and low C3 and/or C4 were predictive of an evolution toward SLE (p=0.01 and p=0.04, respectively). At MCTD diagnosis, fulfilment of IPAF and/or VEDOSS criteria was not predictive of evolution toward SSc, whereas antiphospholipid antibodies and low C3 and/or C4 were predictive of an evolution toward SLE. This suggests that MCTD patients should be excluded from IPAF and VEDOSS.
This study aimed to evaluate the diagnostic performance of the 2019 European League Against Rheumatism/American College of Rheumatology (EULAR/ACR-2019) classification criteria of systemic lupus erythematosus (SLE) and to clarify the clinical characteristics of Japanese childhood-onset SLE (cSLE). We retrospectively analyzed clinical data registered in the Paediatric Rheumatology International Collaboration Unit Registry (PRICURE) version 2 up to March 31, 2023. Frequencies of individual items within the EULAR/ACR-2019 criteria were compared with those observed in a Japanese adult SLE cohort. A total of 105 patients with cSLE, 19 with Juvenile dermatomyositis (JDM), 27 with primary Sjögren's disease (pSjD), and 9 with mixed connective-tissue disease (MCTD) were included. The sensitivity of the EULAR/ACR-2019 criteria was 97.1%. The specificity was 94.7% for JDM, 92.6% for pSjD, 55.6% for MCTD, and 87.3% for all disease controls. cSLE patients in this cohort more frequently exhibited renal involvement, low serum C3 or C4 levels, and positivity for antiphospholipid and anti-double-stranded DNA antibodies, but joint symptoms were less common than in adult SLE patients. Although the EULAR/ACR-2019 criteria are generally applicable, the limited specificity for MCTD necessitates careful differential diagnosis. Japanese cSLE is commonly characterized by renal involvement, hypocomplementemia, and SLE-related autoantibody positivity.
This study systematically compares the efficacy and adverse events of rituximab (RTX) and cyclophosphamide (CYC) in patients with connective tissue disease-related interstitial lung disease (CTD-ILD). The EMBASE, Cochrane, and PubMed databases were systematically searched to find all relevant studies. Quality assessment, study selection, and data extraction were independently conducted by two reviewers. The mean changes in percentage of predicted forced vital capacity (FVC%) and percentage of predicted diffusing capacity for carbon monoxide (DLco%) of the patients were selected to be primary outcome measures. RevMan 5 software was used for the pooled analysis. Among 1106 titles screened from multiple databases, six studies met the inclusion criteria (two randomized controlled trials and four retrospective observational studies). Patients of four studies were systemic sclerosis-related interstitial disease(SSc-ILD), one study was anti-synthetase syndrome-related interstitial lung disease (AsyS-ILD), and one study was CTD-ILD (included idiopathic inflammatory myositis (IIM), systemic sclerosis (SSc) or mixed connective tissue disease (MCTD), rheumatoid arthritis(RA)). The summary weight mean difference of FVC% change in the RTX group compared with the CYC group was 0.86 (95% CI:-1.51,3.24; P = 0.48), and the summary weight mean difference of DLco% change in the RTX group compared with the CYC group was 6.43 (95% CI: 1.62, 11.23; P = 0.009). Our pooled analysis suggested no significant difference in FVC% improvement between RTX and CYC. RTX seems to be slightly superior to CYC in terms of DLco% improvement in our meta-analysis. However, only three out of six enrolled studies provided data on DLco% change. Therefore, the results for DLco% change should be cautiously interpreted. Studies enrolled showed that adverse events were fewer in the RTX group. RTX appears to offer a favorable balance between efficacy and safety. RTX demonstrated similar efficacy
Mixed connective tissue disease (MCTD) is a rare systemic disorder that belongs to connective tissue diseases (CTD). Few studies are available on MCTD treatment. We conducted an observational study within the French MCTD cohort. Data were collected at diagnosis, during follow-up, and at the last follow-up (LFU). We studied three treatment groups i) no treatment, ii) hydroxychloroquine (HCQ) and/or glucocorticoids (GC) and iii) disease-modifying antirheumatic drugs (DMARDs)/immunosuppressant (IS). Three hundred and fifteen patients were included and followed for 96 [40-156] months. At MCTD diagnosis, 52 (16.5 %) patients were treatment-free, while 224 (71.1 %) received GC and/or HCQ and 39 (12.4 %) received DMARDs and/or IS. During follow-up, 10 (3.2 %) patients remained treatment-free, and 77 (24.4 %) were GC-free. Most patients (n = 271; 85.8 %) received HCQ, and 161 (51.1 %) were treated with DMARDs and/or IS. DMARDs and/or IS, including anti-B cell therapeutics, were more frequently prescribed in patients with musculoskeletal involvement (p < 0.0001), interstitial lung disease (ILD, p < 0.0001) and/or pulmonary arterial hypertension (PAH, p < 0.01). Patients in clinical remission and those who did not evolve to a differentiated CTD (MCTD-dCTD) received significantly less frequently DMARDs and/or IS (including anti-B cell therapeutics; p < 0.0001 for both). Patients who received HCQ at MCTD diagnosis appeared to develop less frequently ILD or PAH (p < 0.05). HCQ and GC were the cornerstones of MCTD treatment and were sufficient to control disease manifestations in nearly half of the patients, reflecting the good prognosis of this disease. DMARDs and IS were used for musculoskeletal involvement, PAH/ILD, and in MCTD-dCTD patients.
Systemic sclerosis' (SSc) prevalence varies according to geographical location, presumably in link with environmental and genetic factors. We sought to determine SSc prevalence and incidence on Reunion Island, a southern hemisphere territory characterised by multi-ethnic background. We conducted a retrospective review of SSc cases defined according to ACR/EULAR 2013 classification criteria. Cases were retrieved over the 2005-2021 period through multiple sources, mainly community and hospital follow-up. Patients were assigned to three clinical subsets: sine scleroderma (normal skin) (ss), limited cutaneous (lc) or diffuse cutaneous (dc) SSc. Prospective submission of questionnaires to patients in 2021 enabled determination of patients' self-declared ethnicity and physician-assessed phototype group. Prevalence was calculated for 2021 and mean annual incidence between 2005 and 2021 after adjustment with WHO's standards. Overall, 207 patients were included in the retrospective cohort, including 175 SSc (108 lcSSc, 58 dcSSc and 9 ssSSc) and 32 mixed connective tissue disease. Prevalence and mean annual incidence were estimated to be 30.9 (95 %IC: 26.1-35.8) per 100,000 inhabitants in 2021 and 2.13 (95 %IC: 1.81-2.45) per 100,000 inhabitants/year respectively. The 5- and 10-year survival rates after diagnosis were 0.93 and 0.82 respectively. Phototypes and ethnicity were determined in 102 and 86 patients, respectively. Darker phototypes presented more frequently with pulmonary hypertension, while lighter phototypes had more severe gastro-intestinal manifestations and anti-centromere antibodies positivity. Our study revealed high prevalence and incidence of SSc in Reunion Island which is consistent with the frequently described higher frequency among patients of African origin.
We provide evidence-based recommendations regarding screening for interstitial lung disease (ILD) and the monitoring for ILD progression in people with systemic autoimmune rheumatic diseases (SARDs), specifically rheumatoid arthritis, systemic sclerosis, idiopathic inflammatory myopathies, mixed connective tissue disease, and Sjögren disease. We developed clinically relevant population, intervention, comparator, and outcomes questions related to screening and monitoring for ILD in patients with SARDs. A systematic literature review was performed, and the available evidence was rated using the Grading of Recommendations, Assessment, Development, and Evaluation methodology. A Voting Panel of interdisciplinary clinician experts and patients achieved consensus on the direction and strength of each recommendation. Fifteen recommendations were developed. For screening people with these SARDs at risk for ILD, we conditionally recommend pulmonary function tests (PFTs) and high-resolution computed tomography of the chest (HRCT chest); conditionally recommend against screening with 6-minute walk test distance (6MWD), chest radiography, ambulatory desaturation testing, or bronchoscopy; and strongly recommend against screening with surgical lung biopsy. We conditionally recommend monitoring ILD with PFTs, HRCT chest, and ambulatory desaturation testing and conditionally recommend against monitoring with 6MWD, chest radiography, or bronchoscopy. We provide guidance on ILD risk factors and suggestions on frequency of testing to evaluate for the development of ILD in people with SARDs. This clinical practice guideline presents the first recommendations endorsed by the American College of Rheumatology and American College of Chest Physicians for the screening and monitoring of ILD in people with SARDs.
Interstitial lung disease (ILD) is a frequent manifestation of connective tissue diseases (CTDs) and is associated with high morbidity and mortality. Clinical practice guidelines to standardise screening, diagnosis, treatment and follow-up for CTD-ILD are of high importance for optimised patient care. A European Respiratory Society and European Alliance of Associations for Rheumatology task force committee, composed of pulmonologists, rheumatologists, pathologists, radiologists, methodologists and patient representatives, developed recommendations based on PICO (Patients, Intervention, Comparison, Outcomes) questions with grading of the evidence according to the GRADE (Grading of Recommendations, Assessment, Development and Evaluations) methodology and complementary narrative questions agreed on by both societies. For both PICO and narrative questions, the Evidence to Decision framework was used to formulate the recommendations. The task force committee concluded with recommendations for 25 PICO and 28 narrative questions, regarding ILD in the context of systemic sclerosis, rheumatoid arthritis (RA), idiopathic inflammatory myopathies, Sjögren disease (SjD), systemic lupus erythematosus (SLE) and mixed connective tissue disease (MCTD). In four narrative questions, regarding screening and assessment of risk for ILD progression in MCTD, SjD and SLE and one PICO question regarding pirfenidone in CTD-ILD other than RA-ILD, the task force had insufficient evidence to support recommendations. Screening, diagnostic, monitoring and treatment algorithms were developed based on the recommendations and usual clinical practice. We provide practical guidance by evidence-based recommendations to clinicians for each of the CTDs. In many cases there is low certainty or absence of evidence and we encourage further research to fill these gaps.