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Challenges in the Diagnosis and Management of Autoimmune Diseases

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A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 July 2023) | Viewed by 22102

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Dr. Durga Prasanna Misra

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Department of Clinical Immunology and Rheumatology, SGPGIMS, Lucknow, India
Interests: Takayasu arteritis; ANCA vasculitis; systemic vasculitis; cardiovascular risk in rheumatic diseases; systemic sclerosis; systematic reviews; meta-analyses
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Dr. Corrado Campochiaro

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IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, 20132 Milan, Italy
Interests: systemic sclerosis; targeted treatments; interstitial lung disease; digital ulcers; calcinosis; pulmonary arterial hypertension; autoantibodies; progression; disease outcomes; Takayasu arteritis; giant cell arteritis
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Dear Colleagues,

Autoimmune diseases are important causes of morbidity, and in many instances, premature mortality in young individuals. The diagnosis of autoimmune diseases is challenging. Apart from a thorough clinical history and examination, various other laboratory investigations are essential in either diagnosing or prognosticating autoimmune diseases. These include laboratory investigations and imaging. Often, a combination of different modalities of clinical assessment and investigations is used to derive composite scoring systems. The management of autoimmune diseases presents its own challenges. While immune modulation using corticosteroids is often the first step, the long-term use of corticosteroids is associated with its own complications such as increased risk of infections, metabolic syndrome, hypertension, and osteoporosis. Therefore, disease-modifying anti-rheumatic drugs (DMARDs) are used in most instances to maintain the immunosuppressive effect of corticosteroids while minimizing the dose and duration of corticosteroid therapy. While conventional DMARDs are generally used as first-line therapies, biologic DMARDs, and more recently, targeted synthetic DMARDs, are increasingly being used in different autoimmune diseases. DMARDs have their own risks such as that of infections. In specific instances, biologic DMARDs such as anti-TNF agents might predispose to autoimmune syndromes such as lupus or demyelination. Recently, cardiovascular and malignancy risks associated with certain Janus kinase inhibitors have been recognized. After the activity of an autoimmune disease has been controlled, the next challenge remains that of tapering the immunosuppressive therapy whilst maintaining remission. Reduction in ongoing immunosuppressive therapy is another area of active research.

In this Special Issue, we invite articles related to the challenges in the diagnosis and/or management of autoimmune diseases. Research articles and review articles related to autoimmune or inflammatory rheumatic diseases, autoimmune gastrointestinal diseases, and autoimmune eye or inner ear diseases are welcome. Articles providing an in-depth analysis of unclear diagnostic or therapeutic dilemmas in autoimmune diseases will be particularly welcome.

Dr. Durga Prasanna Misra
Dr. Corrado Campochiaro
Guest Editors

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Keywords

autoimmune diseases
rheumatoid arthritis
spondyloarthritis
psoriatic arthritis
vasculitis
systemic sclerosis
Sjogren’s syndrome
systemic lupus erythematosus
inflammatory bowel disease
autoimmune eye diseases
autoinflammatory diseases

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Published Papers (8 papers)

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Research

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10 pages, 638 KiB

Open AccessArticle

Visual Scoring of Sacroiliac Joint/Sacrum Ratios of Single-Photon Emission Computed Tomography/Computed Tomography Images Affords High Sensitivity and Negative Predictive Value in Axial Spondyloarthritis

by Eun-Chong Yoon, Jong-Sun Kim, Chae Hong Lim, Soo Bin Park, Suyeon Park, Kyung-Ann Lee and Hyun-Sook Kim

Diagnostics 2023, 13(10), 1725; https://doi.org/10.3390/diagnostics13101725 - 12 May 2023

Cited by 2 | Viewed by 1397

Abstract

Spondyloarthritis (SpA) is characterized by inflammatory back pain. Magnetic resonance imaging (MRI) was the earlier gold standard technique for detecting early inflammatory change. We reassessed the diagnostic utility of sacroiliac joint/sacrum (SIS) ratios of single-photon emission computed tomography/computed tomography (SPECT/CT) for identifying sacroiliitis. We aimed to investigate of SPECT/CT in diagnosing SpA using a rheumatologist’s visual scoring of SIS ratios assessment. We conducted a single-center, medical records review study of patients with lower back pain who underwent bone SPECT/CT from August 2016 to April 2020. We employed semiquantitative visual bone scoring methods of SIS ratio. The uptake of each sacroiliac joint was compared to that of the sacrum (0–2). A score of 2 for the sacroiliac joint of either side was considered diagnostic of sacroiliitis. Of the 443 patients assessed, 40 had axial SpA (axSpA), 24 being radiographic axSpA and 16 being nonradiographic axSpA. The sensitivity, specificity, and positive and negative predictive values of SIS ratio of SPECT/CT for axSpA were 87.5%, 56.5%, 16.6%, and 97.8%, respectively. In receiver operating curve analysis, MRI better diagnosed axSpA than did SIS ratio of SPECT/CT. Although the diagnostic utility of SIS ratio of SPECT/CT was inferior to MRI, visual scoring of SPECT/CT affords high sensitivity and negative predictive value in axSpA. When MRI is inappropriate for certain patients, SIS ratio of SPECT/CT is an alternative tool for identifying axSpA in real practice. Full article

(This article belongs to the Special Issue Challenges in the Diagnosis and Management of Autoimmune Diseases)

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13 pages, 1302 KiB

Open AccessArticle

Performance of Clinical and Biochemical Parameters in Identifying Renal Histopathology and Predictors of One-Year Renal Outcome in Lupus Nephritis—A Single Centre Study from India

by Aishwarya Gopal, Chengappa Kavadichanda, Devender Bairwa, Sanket Shah, Sonal Mehra, Bheemanathi Hanuman Srinivas, Christina Mary Mariaselvam, Molly Mary Thabah and Vir Singh Negi

Diagnostics 2022, 12(12), 3163; https://doi.org/10.3390/diagnostics12123163 - 14 Dec 2022

Cited by 2 | Viewed by 2012

Abstract

Objectives: To assess the performance of clinical and biochemical parameters in identifying renal histopathology. To assess the performance of a combination of demographic, clinical, serological and histopathological parameters in determining renal response at one year. Methods: Data of biopsy-proven (ISN/RPS—2003 criteria) Lupus Nephritis (LN) were extracted from the institute database. Demographic, clinical and biochemical parameters at the time of biopsy were noted, and their associations with histopathological class, activity and chronicity scores were evaluated. Follow-up data at one year were collected. Complete, partial or no response (CR, PR, NR) for renal outcomes at one year and the predictors of NR were assessed. Results: Out of the 333 renal biopsies, 240 (71.8%) were Class III/IV. More patients with Class III/IV LN had hypertension (52.1%) and low eGFR (p < 0.001). Among Class III/IV, AS correlated weakly with UPCR (r = 0.31, p < 0.01), eGFR (r = −0.172; p < 0.01) and CS with eGFR (r = −0.212; p < 0.01). The presence of either hypertension, UPCR > 0.5 g/day, active urinary sediments or serum creatinine >1.3 g/dL had a sensitivity of >96% and specificity of <9% in detecting proliferative LN, crescents, interstitial inflammation and chronicity. NR was higher in males (aOR:3.9, 95% CI:1.4–11.0, p < 0.001), those with abnormal baseline creatinine (aOR: 1.9, 95% CI: 1.1–3.2, p < 0.001), higher renal SLEDAI (p < 0.05), higher AS, CS (p < 0.001) and interstitial inflammation (p < 0.005). In the binary logistic regression, the combination of male sex, baseline creatinine, UPCR and CS performed best in predicting NR (AUC: 0.762; 95% CI: 0.684–0.840, p < 0.001). Conclusions: Clinical and biochemical parameters alone have a poor specificity in identifying renal histopathology. A combination of demographic, clinical and histopathology parameters can better predict renal outcomes at one year. Full article

(This article belongs to the Special Issue Challenges in the Diagnosis and Management of Autoimmune Diseases)

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15 pages, 1521 KiB

Open AccessArticle

Impact of Geographic Location on Diagnosis and Initial Management of Takayasu Arteritis: A Tale of Two Cohorts from Italy and India

by Durga Prasanna Misra, Alessandro Tomelleri, Upendra Rathore, Giovanni Benanti, Kritika Singh, Manas Ranjan Behera, Neeraj Jain, Manish Ora, Dharmendra Singh Bhadauria, Sanjay Gambhir, Sudeep Kumar, Elena Baldissera, Vikas Agarwal, Corrado Campochiaro and Lorenzo Dagna

Diagnostics 2022, 12(12), 3102; https://doi.org/10.3390/diagnostics12123102 - 9 Dec 2022

Cited by 10 | Viewed by 2300

Abstract

The present study compares disease characteristics, imaging modalities used, and patterns of treatment in two large cohorts of Takayasu arteritis (TAK) from Italy and India. Clinic files were retrospectively reviewed to retrieve information about initial choices of vascular imaging and immunosuppressive therapies. Unpaired t-tests compared means, and proportions were compared using Fisher’s exact test or Chi square test [Odds ratios (OR) with 95% confidence intervals (95%CI) calculated where appropriate]. The cohorts comprised 318 patients [Italy (n = 127), India (n = 191)] with similar delays to diagnosis. Ultrasound (OR Italy vs. India 9.25, 95%CI 5.02–17.07) was more frequently used in Italy and CT angiography in India (OR 0.32, 95%CI 0.20–0.51). Corticosteroid use was more prevalent and for longer duration in Italy. TAK from Italy had been more often treated with methotrexate, leflunomide or azathioprine, as opposed to tacrolimus in TAK from India (p < 0.05). Biologic or targeted synthetic disease-modifying agents were almost exclusively used in Italy. Survival on first immunosuppressive agent was longer from Italy than from India (log rank test p value 0.041). Considerable differences in the choice of initial vascular imaging modality and therapies for TAK from Italy and India could relate to prevalent socio-economic disparities. These should be considered while developing treatment recommendations for TAK. Full article

(This article belongs to the Special Issue Challenges in the Diagnosis and Management of Autoimmune Diseases)

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15 pages, 1386 KiB

Open AccessArticle

Diffusion Tensor and Dynamic Contrast-Enhanced Magnetic Resonance Imaging Correlate with Molecular Markers of Inflammation in the Synovium

by Deepak Tripathi, Rishi Awasthi, Vikas Agarwal, Vinita Agrawal, Ram Kishore Singh Rathore, Kusum Sharma, Chandra Mani Pandey and Rakesh Kumar Gupta

Diagnostics 2022, 12(12), 3041; https://doi.org/10.3390/diagnostics12123041 - 5 Dec 2022

Cited by 6 | Viewed by 2133

Abstract

Objectives: It is difficult to capture the severity of synovial inflammation on imaging. Herein we hypothesize that diffusion tensor imaging (DTI) derived metrics may delineate the aggregation of the inflammatory cells and expression of inflammatory cytokines and dynamic contrast-enhanced (DCE) imaging may provide information regarding vascularity in the inflamed synovium. Patients and methods: Patients with knee arthritis (>3-months duration) underwent conventional (T2-weighted fast spin echo and spin echo T1-weighted images) as well as DTI and DCE MRI and thereafter arthroscopic guided synovial biopsy. DCE and DTI metrics were extracted from the masks of the segments of the inflamed synovium which enhanced on post-contrast T1-weighted MRI. These metrics were correlated with immunohistochemistry (IHC) parameters of inflammation on synovium. Statistical analysis: Pearson’s correlation was performed to study the relationship between DTI- and DCE-derived metrics, IHC parameters, and post-contrast signal intensity. Linear regression model was used to predict the values of IHC parameters using various DTI and DCE derived metrics as predictors. Results: There were 80 patients (52 male) with mean age 39.78 years and mean disease duration 19.82 months. Nineteen patients had tuberculosis and the rest had chronic undifferentiated monoarthritis (n = 31), undifferentiated spondyloarthropathy (n = 14), rheumatoid arthritis (n = 6), osteoarthritis (n = 4), reactive arthritis (n = 3), ankylosing spondylitis (n = 2), and juvenile idiopathic arthritis (n = 1). Fractional anisotropy (FA), a metric of DTI, had significant correlation with number of immune cells (r = 0.87, p < 0.01) infiltrating into the synovium and cytokines (IL-1β, r = 0.55, p < 0.01; TNF-α, r = 0.42, p < 0.01) in all patients and also in each group of patients and adhesion molecule expressed on these cells in all patients (CD54, r = 0.51, p < 0.01). DCE parameters significantly correlated with CD34 (blood flow, r = 0.78, p < 0.01; blood volume, r = 0.76, p < 0.01) in each group of patients, a marker of neo-angiogenesis. FA was the best predictor of infiltrating inflammatory cells, adhesion molecule and proinflammatory cytokines. Amongst the DCE parameters, blood volume, was best predictor of CD34. Conclusion: DTI and DCE metrics capture cellular and molecular markers of synovial inflammation in patients with chronic inflammatory arthritis. Full article

(This article belongs to the Special Issue Challenges in the Diagnosis and Management of Autoimmune Diseases)

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12 pages, 767 KiB

Open AccessArticle

Methylation of TET2 Promoter Is Associated with Global Hypomethylation and Hypohydroxymethylation in Peripheral Blood Mononuclear Cells of Systemic Lupus Erythematosus Patients

by Wan-Yu Sung, Yuan-Zhao Lin, Daw-Yang Hwang, Chia-Hui Lin, Ruei-Nian Li, Chia-Chun Tseng, Cheng-Chin Wu, Tsan-Teng Ou and Jeng-Hsien Yen

Diagnostics 2022, 12(12), 3006; https://doi.org/10.3390/diagnostics12123006 - 1 Dec 2022

Cited by 1 | Viewed by 1862

Abstract

(1) Background: It is widely accepted that aberrant methylation patterns contribute to the development of systemic lupus erythematosus (SLE). Ten–eleven translocation (TET) methylcytosine dioxygenase is an essential enzyme of which there are three members, TET1, 2, and 3, involved in hydroxymethylation, a newly uncovered mechanism of active DNA methylation. The epigenomes of gene transcription are regulated by 5-hydroxymethylcytocine (5-hmC) and TETs, leading to dysregulation of the immune system in SLE. The purpose of this study was to investigate the global hydroxymethylation status in SLE peripheral blood mononuclear cells (PBMCs) and to explore the role of TETs in changing the patterns of methylation. (2) Methods: We collected PBMCs from 101 SLE patients and 100 healthy donors. TaqMan real-time polymerase chain-reaction assay was performed for the detection of 5-methylcytosine (5-mC), 5-hmC, and TET2 mRNA expression and single-nucleotide polymorphism genotyping. The methylation rates in different CpG sites of TET2 promoters were examined using next-generation sequencing-based deep bisulfite sequencing. Putative transcription factors were investigated using the UCSC Genome Browser on the Human Dec. 2013 (GRCh38/hg38) Assembly. (3) Results: 5-mC and 5-hmC were both decreased in SLE. The mRNA expression level of TET2 was notably high and found to be correlated with the levels of immunologic biomarkers that are indicative of SLE disease activity. The analysis of methylation rates in the TET2 promoter revealed that SLE patients had significantly higher and lower rates of methylation in TET2 105146072-154 and TET2 105146218-331, respectively. (4) Conclusions: TET2 may play an important role in 5-mC/5-hmC dynamics in the PBMCs of SLE patients. The epigenetic modification of TET2 promoters could contribute to the pathogenesis of SLE and the intensity of the immunologic reaction. Full article

(This article belongs to the Special Issue Challenges in the Diagnosis and Management of Autoimmune Diseases)

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Review

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11 pages, 567 KiB

Open AccessReview

Update on the Diagnosis of Behçet’s Disease

by Fatma Alibaz-Oner and Haner Direskeneli

Diagnostics 2023, 13(1), 41; https://doi.org/10.3390/diagnostics13010041 - 23 Dec 2022

Cited by 23 | Viewed by 4117

Abstract

Behçet’s disease (BD) is a systemic inflammatory disease with unknown etiology. It is characterized by recurrent mucocutaneous lesions and major organ disease such as ocular, neurologic, vascular, and gastrointestinal manifestations. The diagnosis of BD is mainly based on clinical manifestations after ruling out other potential causes. There are no specific laboratory, histopathologic, or genetic findings for the diagnosis of BD. The International Study Group (ISG) criteria set is still the most widely used set for the diagnosis. The main limitation of this criteria set is the lack of major organ manifestations such as vascular, neurologic, and gastrointestinal involvement. The ICBD 2014 criteria are more sensitive, especially in early disease. However, patients with such as spondyloarthritis can easily meet this criteria set, causing overdiagnosis. Diagnosing BD can be a big challenge in daily practice, especially in patients presenting with only major organ involvement such as posterior uveitis, neurologic, vascular, and gastrointestinal findings with or without oral ulcers. These patients do not meet ISG criteria and can be diagnosed with “expert opinion” in countries with high BD prevalence. The pathergy test is the only diagnostic test used as diagnostic or classification criteria for BD. Our recent studies showed that common femoral vein (CFV) thickness measurement can be a valuable, practical, and cheap diagnostic tool for BD with sensitivity and specificities higher than 80% for the cut-off value of 0.5 mm. However, the diagnostic accuracy of CFV measurement should be investigated in other disease groups in the differential diagnosis of BD and in also different ethnic populations. Full article

(This article belongs to the Special Issue Challenges in the Diagnosis and Management of Autoimmune Diseases)

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18 pages, 345 KiB

Open AccessReview

Central Nervous System Involvement in Primary Sjögren’s Syndrome: Narrative Review of MRI Findings

by László V. Módis, Zsófia Aradi, Ildikó Fanny Horváth, János Bencze, Tamás Papp, Miklós Emri, Ervin Berényi, Antal Bugán and Antónia Szántó

Diagnostics 2023, 13(1), 14; https://doi.org/10.3390/diagnostics13010014 - 21 Dec 2022

Cited by 4 | Viewed by 2807

Abstract

Central nervous system (CNS) involvement is one of the numerous extraglandular manifestations of primary Sjögren’s syndrome (pSS). Moreover, neurological complaints precede the sicca symptoms in 25–60% of the cases. We review the magnetic resonance imaging (MRI) lesions typical for pSS, involving the conventional examination, volumetric and morphometric studies, diffusion tensor imaging (DTI) and resting-state fMRI. The most common radiological lesions in pSS are white matter hyperintensities (WMH), scattered alterations hyperlucent on T2 and FLAIR sequences, typically located periventricularly and subcortically. Cortical atrophy and ventricular dilatation can also occur in pSS. Whilst these conditions are thought to be more common in pSS than healthy controls, DTI and resting-state fMRI alterations demonstrate evident microstructural changes in pSS. As pSS is often accompanied by cognitive symptoms, these MRI alterations are expectedly related to them. This relationship is not clearly delineated in conventional MRI studies, but DTI and resting-state fMRI examinations show more convincing correlations. In conclusion, the CNS manifestations of pSS do not follow a certain pattern. As the link between the MRI lesions and clinical manifestations is not well established, more studies involving larger populations should be performed to elucidate the correlations. Full article

(This article belongs to the Special Issue Challenges in the Diagnosis and Management of Autoimmune Diseases)

32 pages, 1170 KiB

Open AccessReview

Outcome Measures and Biomarkers for Disease Assessment in Takayasu Arteritis

by Durga Prasanna Misra, Neeraj Jain, Manish Ora, Kritika Singh, Vikas Agarwal and Aman Sharma

Diagnostics 2022, 12(10), 2565; https://doi.org/10.3390/diagnostics12102565 - 21 Oct 2022

Cited by 18 | Viewed by 4277

Abstract

Takayasu arteritis (TAK) is a less common large vessel vasculitis where histopathology of involved arteries is difficult to access except during open surgical procedures. Assessment of disease activity in TAK, therefore, relies on surrogate measures. Clinical disease activity measures such as the National Institutes of Health (NIH) score, the Disease Extent Index in TAK (DEI.TAK) and the Indian TAK Clinical Activity Score (ITAS2010) inconsistently associate with acute phase reactants (APRs). Computerized tomographic angiography (CTA), magnetic resonance angiography (MRA), or color Doppler Ultrasound (CDUS) enables anatomical characterization of stenosis, dilatation, and vessel wall characteristics. Vascular wall uptake of 18-fluorodeoxyglucose or other ligands using positron emission tomography computerized tomography (PET-CT) helps assess metabolic activity, which reflects disease activity well in a subset of TAK with normal APRs. Angiographic scoring systems to quantitate the extent of vascular involvement in TAK have been developed recently. Erythrocyte sedimentation rate and C-reactive protein have a moderate performance in distinguishing active TAK. Numerous novel biomarkers are under evaluation in TAK. Limited literature suggests a better assessment of active disease by combining APRs, PET-CT, and circulating biomarkers. Validated damage indices and patient-reported outcome measures specific to TAK are lacking. Few biomarkers have been evaluated to reflect vascular damage in TAK and constitute important research agenda. Full article

(This article belongs to the Special Issue Challenges in the Diagnosis and Management of Autoimmune Diseases)

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