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Special Issue "Diagnosis and Management of Systemic Autoimmune Diseases"

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A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Medical Research".

Deadline for manuscript submissions: closed (31 January 2023) | Viewed by 5127

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Special Issue Editors

Dr. Rosaria Talarico

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Guest Editor

Rheumatology Unit, Azienda Ospedaliero Universitaria Pisana Rheumatology Unit, University of Pisa, 56126 Pisa, Italy
Interests: vasculitis; behçet’s disease; rare and complex connective tissue diseases

Prof. Dr. Marta Mosca

E-Mail Website
Guest Editor

Unit of Rheumatology, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy
Interests: systemic autoimmune diseases; rare and complex connective tissue diseases; systemic lupus erythematosus; pregnancy in systemic autoimmune diseases

Special Issue Information

Dear Colleagues,

Recently, we set up a Special Issue, focused on the diagnosis and management of systemic autoimmune diseases. It will incorporate papers highlighting the major challenges experienced in the diagnosis and management of systemic autoimmune diseases (e.g., Behçet’s disease, large vessel vasculitis, systemic lupus erythematosus, Sjogren’s syndrome, inflammatory myopathies, and rare connective tissue diseases). The main challenges will include diagnostic, clinical, and therapeutical topics as well as organizational and economic aspects of systemic autoimmune diseases.

The Special Issue is now open for submissions. Prospective authors should first send a short abstract or tentative title to the Editorial Office. If the editors deem the topic to be appropriate for inclusion in one of the Special Issues, the author will be encouraged to submit a full manuscript.

Dr. Rosaria Talarico
Prof. Dr. Marta Mosca
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Life is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

systemic autoimmune diseases
connective tissue diseases
differential diagnosis
management
economic and organizational aspects of systemic autoimmune diseases

Published Papers (7 papers)

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Research

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Open AccessArticle

Heart Valve Surgery in Antiphospholipid Syndrome Patients—Morbidity and Mortality

and

Life 2023, 13(4), 891; https://doi.org/10.3390/life13040891 - 27 Mar 2023

Viewed by 674

Abstract

Objectives: To assess valve surgery outcomes in antiphospholipid syndrome (APS). Methods: A retrospective study assessing complications and mortality rate and possible factors associated with adverse outcomes of APS patients undergoing valve surgery in two tertiary medical centers. Results: Twenty-six APS patients (median age at surgery 47.5 years) who underwent valve surgery were detected, of whom 11 (42.3%) had secondary APS. The mitral valve was most commonly involved (n = 15, 57.7%). A valve replacement was performed in 24 operations (92.3%), 16 of which (66.7%) were mechanical valves. Fourteen (53.8%) patients sustained severe complications, and four of them died. The presence of mitral regurgitation (MR) was associated with severe complications and mortality (odds ratio (95% confidence interval) 12.5 (1.85–84.442), p = 0.008, for complications. All deceased patients had MR (p = 0.033). The presence of Libman-Sacks endocarditis (LSE) (7.333 (1.272–42.294), p = 0.045), low C3 (6.667 (1.047–42.431), p = 0.05) and higher perioperative prednisone doses (15 ± 21.89 vs. 1.36 ± 3.23 mg/day, p = 0.046) were also associated with complications. A lower glomerular filtration rate (GFR) was associated with mortality (30.75 ± 19.47 vs. 70.68 ± 34.44 mL/min, p = 0.038). Conclusions: Significant morbidity and mortality were observed among APS patients undergoing valve surgery. MR was associated with mortality and complications. LSE, low complement and higher doses of corticosteroids were associated with complications, while a low GFR was associated with mortality. Full article

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

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Rheumatic Diseases Development in Patients Treated by Anti-PD1 Immune Checkpoint Inhibitors: A Single-Centre Descriptive Study

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Life 2023, 13(4), 877; https://doi.org/10.3390/life13040877 - 25 Mar 2023

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Abstract

The introduction of the so-called immune checkpoint inhibitors (ICIs) substantially changed the history of cancer therapy. On the other hand, they can induce the development of rheumatic immune-related adverse events (Rh-irAEs). In the scenario of a joint oncology/rheumatology outpatient clinic, we conducted a single-centre descriptive study to define from a laboratory, clinical and therapeutic point of view, rheumatic conditions developed during anti-PD1 treatment. The study included 32 patients (M/F 16/16, median age 69, IQR 16.5). According to the international classification criteria, eight patients could be classified as affected by Rheumatoid Arthritis, one by Psoriatic Arthritis, six by Polymyalgia Rheumatica, five by systemic connective tissue diseases (two systemic lupus erythematosus, two Sjögren’s syndrome, one undifferentiated connective tissue disease). The remaining patients were diagnosed as having undifferentiated arthritis or inflammatory arthralgia. The median interval between ICIs starting and the onset of symptoms was 14 weeks (IQR 19.75). Moving to treatment, the longitudinal observation revealed that all RA, PsA and CTD patients required the introduction of treatment with DMARDs. In conclusion, the growing use of ICIs in a real-life setting confirmed the possible development of different rheumatological conditions, further emphasising the need for shared oncology/rheumatology management. Full article

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

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Open AccessArticle

Late-Onset Psoriatic Arthritis: Are There Any Distinct Characteristics? A Retrospective Cohort Data Analysis

Chrysoula G. Gialouri

Gerasimos Evangelatos

and

Life 2023, 13(3), 792; https://doi.org/10.3390/life13030792 - 15 Mar 2023

Cited by 1 | Viewed by 686

Abstract

As life expectancy increases, psoriatic arthritis (PsA) in older individuals becomes more prevalent. We explored whether late-onset versus earlier-onset PsA patients display different clinical features at diagnosis and/or during the disease course, as well as different treatment approaches and comorbidity profiles. We retrospectively collected data from consecutive PsA patients attending two rheumatology centers (December 2017–December 2022). Late-onset PsA patients (diagnosis-age: ≥60 years) were compared to those diagnosed before 60 years old. Univariate analyses and logistic regression were performed to examine for factors associated with late-onset PsA. For sensitivity analyses, the cohort’s mean diagnosis age was used as the cut-off value. Overall, 281 PsA patients were included (mean ± SD diagnosis-age: 46.0 ± 13.3 years). Of them, 14.2% (N = 40) had late-onset PsA. At diagnosis, after controlling for confounders, no demographic and clinical differences were identified. During the disease course, the late-onset group exhibited 65% fewer odds of manifesting enthesitis (adjusted Odds-ratio—adOR 0.35; 95% confidence interval 0.13–0.97), but higher frequency of dyslipidemia (adOR 3.01; 1.30–6.95) and of major adverse cardiovascular events (adOR 4.30; 1.42–12.98) compared to earlier-onset PsA group. No differences were found in the treatment approaches. In sensitivity analyses, PsA patients diagnosed after 46 (vs. ≤46) years old had an increased frequency of hypertension (adOR 3.18; 1.70–5.94) and dyslipidemia (adOR 2.17; 1.25–3.74). The present study underpins that late-onset PsA is not uncommon, while the age at PsA onset may affect the longitudinal clinical expression of the disease. Patients with late-onset PsA were less likely to manifest enthesitis but displayed increased cardiovascular risk. Full article

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

Open AccessArticle

Analysis of MIR27A (rs11671784) Variant Association with Systemic Lupus Erythematous

Zenat Ahmed Khired

Shahad W. Kattan

Ahmad Khuzaim Alzahrani

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Life 2023, 13(3), 701; https://doi.org/10.3390/life13030701 - 05 Mar 2023

Viewed by 512

Abstract

Multiple microRNAs (miRs) are associated with systemic autoimmune disease susceptibility/phenotype, including systemic lupus erythematosus (SLE). With this work, we aimed to unravel the association of the miR-27a gene (MIR27A) rs11671784G/A variant with SLE risk/severity. One-hundred sixty-three adult patients with SLE and matched controls were included. A TaqMan allelic discrimination assay was applied for MIR27A genotyping. Logistic regression models were run to test the association with SLE susceptibility/risk. Genotyping of 326 participants revealed that the heterozygote form was the most common genotype among the study cohort, accounting for 72% of the population (n = 234), while A/A and G/G represented 15% (n = 49) and 13% (n = 43), respectively. Similarly, the most prevalent genotype among cases was the A/G genotype, which was present in approximately 93.3% of cases (n = 152). In contrast, only eight and three patients had A/A and G/G genotypes, respectively. The MIR27A rs11671784 variant conferred protection against the development of SLE in several genetic models, including heterozygous (G/A vs. A/A; OR = 0.10, 95% CI = 0.05–0.23), dominant (G/A + G/G vs. AA; OR = 0.15, 95% CI = 0.07–0.34), and overdominant (G/A vs. A/A + G/G; OR = 0.07, 95% CI = 0.04–0.14) models. However, the G/G genotype was associated with increased SLE risk in the recessive model (G/G vs. A/A+ G/G; OR = 17.34, 95% CI = 5.24–57.38). Furthermore, the variant showed significant associations with musculoskeletal and mucocutaneous manifestations in the patient cohort (p = 0.035 and 0.009, respectively) and platelet and white blood cell counts (p = 0.034 and 0.049, respectively). In conclusion, the MIR27A rs11671784 variant showed a potentially significant association with SLE susceptibility/risk in the studied population. Larger-scale studies on multiethnic populations are recommended to verify the results. Full article

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

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Open AccessArticle

Systemic Lupus Erythematous and Obstructive Sleep Apnea: A Possible Association

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Life 2023, 13(3), 697; https://doi.org/10.3390/life13030697 - 05 Mar 2023

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Abstract

Marked fatigue is common in patients with systemic lupus erythematosus (SLE). This study aimed to assess the association of sleep disorders, including obstructive sleep apnea (OSA), with SLE. Forty-two consecutive patients with SLE and 20 healthy controls were recruited and underwent a one-night ambulatory sleep examination. They completed questionnaires, including the Pittsburgh Sleep Quality Index (PSQI) and Functional Assessment of Chronic Illness Therapy (FACIT). SLE disease activity and damage were assessed by the SLE Disease Activity Index 2000 (SLEDAI-2K) and the Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) damage index (SDI). A significantly increased apnea/hypopnea index was noted in the SLE group compared to healthy controls (p = 0.004). SLE patients had higher rates of moderate-to-severe OSA (p = 0.04), PSQI (p = 0.001), and FACIT scores (p = 0.0008). Multivariate analysis revealed that the SDI was associated with OSA (p = 0.03). There was a positive association between SLEDAI-2K and moderate-to-severe OSA (p = 0.03). Patients with SLE had an increased prevalence of OSA and poorer quality of sleep compared to healthy controls. Our findings suggest that active disease and accumulated damage may be associated with OSA. These findings highlight the importance of identifying the presence of OSA in patients with SLE. Full article

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

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Review

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Open AccessReview

Challenges in the Timely Diagnosis of Behcet’s Disease

Fadi Hassan

Helana Jeries

and

Mohammad E. Naffaa

Life 2023, 13(5), 1157; https://doi.org/10.3390/life13051157 - 11 May 2023

Viewed by 511

Abstract

Behcet’s disease (BD) is a chronic, multi-systemic inflammatory disorder mainly characterized by recurrent oral and genital ulcers, skin lesions, and uveitis. As no pathognomonic laboratory test exists for BD, the diagnosis relies solely on clinical features. Over the years, great efforts have been invested in creating clinical diagnostic and classification criteria. The international study group criteria introduced in 1990 were the first true multinational set of criteria. Despite improving the ability to diagnose BD, these criteria still have limitations, including the inability to diagnose patients presenting without oral ulcers or presenting with rare manifestations of the disease. This led to the introduction of the international criteria for BD in 2013, which improved the sensitivity with minimal compromise on specificity. Despite the efforts made and as our understanding of the clinical manifestations of BD and genetic pathogenesis continue to evolve, efforts should be made to further enhance the currently accepted international classification criteria, perhaps by incorporating genetic testing (e.g., family history or HLA typing) as well as ethnic group-specific features. Full article

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

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Open AccessReview

Cardiovascular Disease and Cardiac Imaging in Inflammatory Arthritis

Anastasia-Vasiliki Madenidou

Sophie Mavrogeni

and

Elena Nikiphorou

Life 2023, 13(4), 909; https://doi.org/10.3390/life13040909 - 30 Mar 2023

Viewed by 823

Abstract

Cardiovascular morbidity and mortality are more prevalent in inflammatory arthritis (IA) compared to the general population. Recognizing the importance of addressing this issue, the European League Against Rheumatism (EULAR) published guidelines on cardiovascular disease (CVD) risk management in IA in 2016, with plans to update going forward based on the latest emerging evidence. Herein we review the latest evidence on cardiovascular disease in IA, taking a focus on rheumatoid arthritis, psoriatic arthritis, and axial spondylarthritis, reflecting on the scale of the problem and imaging modalities to identify disease. Evidence demonstrates that both traditional CVD factors and inflammation contribute to the higher CVD burden. Whereas CVD has decreased with the newer anti-rheumatic treatments currently available, CVD continues to remain an important comorbidity in IA patients calling for prompt screening and management of CVD and related risk factors. Non-invasive cardiovascular imaging has been attracting much attention in view of the possibility of detecting cardiovascular lesions in IA accurately and promptly, even at the pre-clinical stage. We reflect on imaging modalities to screen for CVD in IA and on the important role of rheumatologists and cardiologists working closely together. Full article

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

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