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Autoimmune Connective Tissue Diseases: Pathogenesis and Treatment

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Immunology".

Deadline for manuscript submissions: closed (20 June 2023) | Viewed by 4622

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Special Issue Editor

Dr. Andrea Latini

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Guest Editor

Department of Biomedicine and Prevention, University of Rome “Tor Vergata”, Rome, Italy
Interests: genetics; autoimmune diseases; pharmacogenomics; multifactorial diseases; epigenetics; systemic lupus erythematosus, sjogren syndrome

Special Issue Information

Dear colleagues,

Autoimmune connective tissue diseases (ACTDs) are a heterogeneous group of chronic immune-mediated inflammatory disorders, primarily affecting connective tissues and clinically characterized by variable multisystem manifestations, frequently overlapping. The causes and molecular mechanisms underlying the onset of ACTDs have not yet been fully understood; however, it is believed that their aetiology may be multifactorial and could originate from a set of factors such as genetic, environmental and endocrine.

ACTDs tend to mainly affect young women, especially in the period between adolescence and menopause. The diagnosis of connectivitis is not simple, especially in the initial forms, in which the symptomatic procession can be nonspecific and the onset of the disease very insidious. Several clinical diagnostic markers and scores are currently used, but the available biomarkers are often not conclusive for a differential diagnosis.

Although recent advances in understanding pathogenesis have led to major advances in targeted therapy, they still remain incurable. Novel biologic drugs, cell therapy and hematopoietic stem cell transplantation have generated real hope for the development of future treatments. Furthermore, given the wide heterogeneity of clinical manifestations, the stratification of patients before treatment could optimize the therapeutic approach.

The aim of this Special Issue is to highlight recent advances in the context of the pathogenesis and treatment of autoimmune connective tissue diseases.

Relevant topics include:

The molecular mechanisms underlying the onset of ACTDs;
The role of genetics and epigenetics in the development of ACTDs;
Differential diagnostic approaches;
The evaluation of biomarkers for diagnosis, prognosis and drug response;
Novel therapy for ACTDs.

Dr. Andrea Latini
Guest Editor

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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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 2600 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

autoimmune connective tissue diseases
pathogenesis
diagnosis
clinical manifestation
therapy

Published Papers (3 papers)

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Research

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11 pages, 1854 KiB

Open AccessArticle

HDL Cholesterol Efflux and the Complement System Are Linked in Systemic Lupus Erythematosus

by María García-González, Fuensanta Gómez-Bernal, Juan C. Quevedo-Abeledo, Yolanda Fernández-Cladera, Agustín F. González-Rivero, Raquel López-Mejías, Federico Díaz-González, Miguel Á. González-Gay and Iván Ferraz-Amaro

J. Clin. Med. 2023, 12(16), 5405; https://doi.org/10.3390/jcm12165405 - 20 Aug 2023

Viewed by 954

Abstract

Cholesterol efflux capacity (CEC), the ability of high-density lipoprotein (HDL) cholesterol to accept cholesterol from macrophages, has been linked to cardiovascular events. Systemic lupus erythematosus (SLE) is characterized by the consumption of complement (C) proteins and has been associated with an increased risk of cardiovascular disease. CEC is reduced in SLE patients compared to controls. In the present work, our objective was to analyze whether the disruption of C influences CEC in patients with SLE. New-generation functional assays of the three pathways of the C system were performed in 207 patients with SLE. Additionally, serum levels of inactive (C1q, C2, C3, C4, and factor D) and activated (C3a) molecules, and regulators (C1-inhibitor and factor H) of C system were measured. CEC, using an in vitro assay, and lipoprotein serum concentrations were assessed. Multivariable linear regression analysis was performed to assess the relationship between C system and CEC. After full multivariable analysis, the alternative C cascade functional test showed a significant and negative relationship with CEC. This was also the case for C2 and C3, in which the associations were found to be positive and statistically significant, after adjustment for covariates. In conclusion, C system and CEC are interconnected in patients with SLE. Full article

(This article belongs to the Special Issue Autoimmune Connective Tissue Diseases: Pathogenesis and Treatment)

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10 pages, 2468 KiB

Open AccessArticle

Susac Syndrome: Description of a Single-Centre Case Series

by Sara Beça, Claudia Elera-Fitzcarrald, Albert Saiz, Sara Llufriu, Maria C. Cid, Bernardo Sanchez-Dalmau, Alfredo Adan and Gerard Espinosa

J. Clin. Med. 2022, 11(21), 6549; https://doi.org/10.3390/jcm11216549 - 4 Nov 2022

Cited by 2 | Viewed by 1876

Abstract

This study describes the clinical characteristics, diagnostic results, treatment regimens, and clinical course of a cohort of patients with Susac syndrome (SS). It is a retrospective observational study of all patients with the diagnosis of SS evaluated at the Hospital Clinic (Barcelona, Spain) between March 2006 and November 2020. Nine patients were diagnosed with SS. The median time from the onset of the symptoms to diagnosis was five months (IQR 9.0), and the median follow-up time was 44 months (IQR 63.5). There was no clear predominance of sex, and mean age of symptoms onset was 36 years (range 19–59). Six patients (67%) presented with incomplete classical clinical triad, but this eventually developed in six patients during the disease course. Encephalopathy, focal neurological signs, visual disturbances, and hearing loss were the most frequent manifestations. Brain magnetic resonance imaging showed callosal lesions in all patients. Most were in remission within two years. Only four patients met the proposed criteria for definite SS. When SS is suspected, a detailed diagnostic workup should be performed and repeated over time to identify the clinical manifestations that will lead to a definite diagnosis. Full article

(This article belongs to the Special Issue Autoimmune Connective Tissue Diseases: Pathogenesis and Treatment)

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Other

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9 pages, 712 KiB

Open AccessBrief Report

Association of Antiphospholipid Antibodies with Clinical Manifestations in Children with Systemic Lupus Erythematosus

by Gordana Petrovic, Srdjan Pasic and Ivan Soldatovic

J. Clin. Med. 2023, 12(4), 1424; https://doi.org/10.3390/jcm12041424 - 10 Feb 2023

Cited by 2 | Viewed by 1307

Abstract

Background: The aim of the study is to evaluate the effect of the presence of antiphospholipid antibodies on the clinical and laboratory manifestations, disease activity and outcomes of the disease in patients with childhood-onset systemic lupus erythematosus (cSLE). Methods: We conducted a 10-year cross-sectional study with a retrospective analysis of clinical and laboratory parameters and outcome of the disease (kidney, nervous system involvement, thrombosis). For the purpose of the study, patients were divided into cohort groups based on the presence of antiphospholipid antibodies (aPLA), named the aPLA positive group, or their absence, named the aPLA negative group. Values of aPLA were defined in reference laboratories. The disease activity was measured by the Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) score, whereas tissue damage degree was measured by Systemic Lupus International Collaborating Clinics/American College of Rheumatology-Damage Index (SLICC/ACR DI; SDI; DI). Results: Research in our center showed that patients with cSLE often had hematological, cutaneous, and non-thrombotic neurological manifestations. Antiphospholipid antibodies may be present transiently or permanently. A significant change in the titer value was observed in the IgG isotype of aCLA. The presence of higher values of IgM β2GP1 at the beginning indicates that higher disease activity can be expected. Higher disease activity correlates with greater tissue damage. Additionally, it has been shown that aPLA positive patients have two and a half times higher risk of tissue damage than aPLA negative ones. Conclusion: Our study shows that the presence of antiphospholipid antibodies in patients with childhood onset systemic lupus erythematosus may indicate a higher risk of tissue damage, but since it is a rare disease in childhood, prospective and multicenter studies are necessary to assess the importance of the presence of these antibodies. Full article

(This article belongs to the Special Issue Autoimmune Connective Tissue Diseases: Pathogenesis and Treatment)

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