Rheumatic Diseases: Diagnosis, Treatment and Management

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 August 2021) | Viewed by 39860

Special Issue Editor


E-Mail Website
Guest Editor
Department of Internal Medicine, Division of Rheumatology, Dell Medical School, The University of Texas, 1601 Trinity St., Austin, TX 78712, USA
Interests: cell biology; gene expression; molecular medicine; molecular neurobiology; rheumatism
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Advances in the field of diagnostics of rheumatic diseases have been spurred by the development of increasingly accurate biomarkers that have helped revolutionize diagnostic accuracy and provided increased precision in targeted therapeutics. A biomarker is a defined characteristic that is measured and serves as an indicator of either normal biological or pathologic processes. At times, it may also serve as a response to therapeutic interventions. Implemented modalities may include cellular, genetic, imaging, metabolomic, physiologic, or serologic protein endpoints. While there are certain rheumatic disorders, such as rheumatoid arthritis, with well-established serologic markers like rheumatoid factors and cyclic citrullinated peptides that serve as indicators of the presence of a disease with a high degree of accuracy, there are other conditions, such as systemic lupus erythematosus, where the specificity of antinuclear antibodies is less accurate and, finally, conditions like fibromyalgia where accurate biomarkers are entirely lacking.

This Special Issue welcomes contributions covering current aspects of biomarker discovery for rheumatic diseases. Submissions may include articles of current original research, new experimental methodology, and/or review articles summarizing the current state of the art for clinical diagnosis particularly as it relates to the utilization of biomarkers, state-of-the-art treatment, and management of major rheumatic disorders. Discussion of current drawbacks to diagnostic accuracy and future directions for improved accuracy and management are welcome. I look forward to scrutinizing your contributions.

Prof. Dr. Kevin V. Hackshaw
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at mdpi.longhoe.net 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. Diagnostics 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.

Published Papers (8 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Review

Jump to: Other

11 pages, 1837 KiB  
Review
Anti-DFS70 Antibodies for Differentiating Systemic Autoimmune Rheumatic Disease in Patients with Positive ANA Tests: A Systematic Review and Meta-Analysis
by Chiao-Feng Cheng, Ming-Chieh Shih, Ting-Yuan Lan and Ko-Jen Li
Diagnostics 2021, 11(9), 1592; https://doi.org/10.3390/diagnostics11091592 - 1 Sep 2021
Cited by 9 | Viewed by 4474
Abstract
Anti-DFS70 antibodies have been proposed as a marker to exclude systemic autoimmune rheumatic disease (SARD). We conducted this systematic diagnostic test accuracy review and meta-analysis to determine the performance of anti-DFS70 antibodies in patients with a positive anti-nuclear antibody (ANA) test result to [...] Read more.
Anti-DFS70 antibodies have been proposed as a marker to exclude systemic autoimmune rheumatic disease (SARD). We conducted this systematic diagnostic test accuracy review and meta-analysis to determine the performance of anti-DFS70 antibodies in patients with a positive anti-nuclear antibody (ANA) test result to exclude SARD. We searched PubMed, Embase, Web of Science, Scopus and the Cochrane Library up to 22 February 2021, and included studies examining the diagnostic accuracy of anti-DFS70 antibodies in patients with a positive ANA test result. The results were pooled using a hierarchical bivariate model and plotted in summary receiver operating characteristic curves. R software and Stata Statistical Software were used for the statistical analysis. Eight studies with 4168 patients were included. The summary sensitivity was 0.19 (95% confidence interval: 0.12–0.28) and the specificity was 0.93 (95% confidence interval: 0.88–0.96). The area under the curve was 0.69 (95% confidence interval: 0.64–0.72). The meta-regression analysis showed that targeting only ANA-associated rheumatic disease was associated with higher specificity. In addition, the studies with a non-SARD prevalence of <80% and using a chemiluminescence assay were associated with higher specificity. Anti-DFS70 antibodies have high specificity for the exclusion of SARD among patients presenting with a positive ANA test, but the sensitivity is low. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis, Treatment and Management)
Show Figures

Figure 1

17 pages, 433 KiB  
Review
A Systematic Review of the Inclusion of Non-Inflammatory Ultrasonographic Enthesopathy Findings in Enthesitis Scoring Indices
by Sheryl Mascarenhas and Nina Couette
Diagnostics 2021, 11(4), 669; https://doi.org/10.3390/diagnostics11040669 - 8 Apr 2021
Cited by 7 | Viewed by 2511
Abstract
Ultrasound has advanced the diagnosis and management of patients with inflammatory rheumatic conditions. It can be used to identify and monitor enthesitis, a cardinal feature of spondyloarthropthies. Several enthesitis scoring systems utilizing ultrasound to determine entheseal involvement have been developed. These scoring systems [...] Read more.
Ultrasound has advanced the diagnosis and management of patients with inflammatory rheumatic conditions. It can be used to identify and monitor enthesitis, a cardinal feature of spondyloarthropthies. Several enthesitis scoring systems utilizing ultrasound to determine entheseal involvement have been developed. These scoring systems generally rely on determining the presence or absence of erosions, tendon enlargement, power Doppler signal, or enthesophytes. This systematic review identified ultrasound scoring systems that have been utilized for evaluating enthesitis and what key components derive the score. Review of these scoring systems, however, demonstrated confounding as some of the score components including enthesophytes may be seen in non-inflammatory conditions and some components including erosions can be seen from chronic damage, but not necessarily indicate active inflammatory disease. What is furthermore limiting is that currently there is not an agreed upon term to describe non-inflammatory enthesopathies, further complicating these scoring systems. This review highlights the need for a more comprehensive ultrasound enthesopathy scoring index. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis, Treatment and Management)
Show Figures

Figure 1

15 pages, 300 KiB  
Review
Intraepidermal Nerve Fiber Density as Measured by Skin Punch Biopsy as a Marker for Small Fiber Neuropathy: Application in Patients with Fibromyalgia
by Mary A. Kelley and Kevin V. Hackshaw
Diagnostics 2021, 11(3), 536; https://doi.org/10.3390/diagnostics11030536 - 17 Mar 2021
Cited by 10 | Viewed by 3961
Abstract
Small fiber neuropathy (SFN) is a type of peripheral neuropathy that occurs from damage to the small A-delta and C nerve fibers that results in the clinical condition known as SFN. This pathology may be the result of metabolic, toxic, immune-mediated, and/or genetic [...] Read more.
Small fiber neuropathy (SFN) is a type of peripheral neuropathy that occurs from damage to the small A-delta and C nerve fibers that results in the clinical condition known as SFN. This pathology may be the result of metabolic, toxic, immune-mediated, and/or genetic factors. Small fiber symptoms can be variable and inconsistent and therefore require an objective biomarker confirmation. Small fiber dysfunction is not typically captured by diagnostic tests for large-fiber neuropathy (nerve conduction and electromyographic study). Therefore, skin biopsies stained with PGP 9.5 are the universally recommended objective test for SFN, with quantitative sensory tests, autonomic function testing, and corneal confocal imaging as secondary or adjunctive choices. Fibromyalgia (FM) is a heterogenous syndrome that has many symptoms that overlap with those found in SFN. A growing body of research has shown approximately 40–60% of patients carrying a diagnosis of FM have evidence of SFN on skin punch biopsy. There is currently no clearly defined phenotype in FM at this time to suggest whom may or may not have SFN, though research suggests it may correlate with severe cases. The skin punch biopsy provides an objective tool for use in quantifying small fiber pathology in FM. Skin punch biopsy may also be repeated for surveillance of the disease as well as measuring response to treatments. Evaluation of SFN in FM allows for better classification of FM and guidance for patient care as well as validation for their symptoms, leading to better use of resources and outcomes. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis, Treatment and Management)
14 pages, 292 KiB  
Review
The Search for Biomarkers in Fibromyalgia
by Kevin V. Hackshaw
Diagnostics 2021, 11(2), 156; https://doi.org/10.3390/diagnostics11020156 - 21 Jan 2021
Cited by 20 | Viewed by 5966
Abstract
Fibromyalgia is the most common of the central sensitivity syndromes affecting 2–5% of the adult population in the United States. This pain amplification syndrome has enormous societal impact as measured by work absenteeism, decreased work productivity, disability and injury compensation and over-utilization of [...] Read more.
Fibromyalgia is the most common of the central sensitivity syndromes affecting 2–5% of the adult population in the United States. This pain amplification syndrome has enormous societal impact as measured by work absenteeism, decreased work productivity, disability and injury compensation and over-utilization of healthcare resources. Multiple studies have shown that early diagnosis of this condition can improve patient outlook and redirect valuable healthcare resources towards more appropriate targeted therapy. Efforts have been made towards improving diagnostic accuracy through updated criteria. The search for biomarkers for diagnosis and verification of Fibromyalgia is an ongoing process. Inadequacies with current diagnostic criteria for this condition have fueled these efforts for identification of a reproducible marker that can verify this disease in a highly sensitive, specific and reproducible manner. This review focuses on areas of research for biomarkers in fibromyalgia and suggests that future efforts might benefit from approaches that utilize arrays of biomarkers to identify this disorder that presents with a diverse clinical phenotype. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis, Treatment and Management)
17 pages, 3663 KiB  
Review
Alteration of Postural Balance in Patients with Fibromyalgia Syndrome—A Systematic Review and Meta-Analysis
by David Núñez-Fuentes, Esteban Obrero-Gaitán, Noelia Zagalaz-Anula, Alfonso Javier Ibáñez-Vera, Alexander Achalandabaso-Ochoa, María del Carmen López-Ruiz, Daniel Rodríguez-Almagro and Rafael Lomas-Vega
Diagnostics 2021, 11(1), 127; https://doi.org/10.3390/diagnostics11010127 - 15 Jan 2021
Cited by 18 | Viewed by 3543
Abstract
Balance problems are one of the most frequent symptoms in patients with Fibromyalgia Syndrome (FMS). However, the extent and nature of this balance disorder are not known. The objective of this work was to determine the best evidence for the alteration of postural [...] Read more.
Balance problems are one of the most frequent symptoms in patients with Fibromyalgia Syndrome (FMS). However, the extent and nature of this balance disorder are not known. The objective of this work was to determine the best evidence for the alteration of postural balance in patients with FMS and analyze differences with healthy controls. To meet this objective, a systematic review with meta-analysis was performed. A bibliographical search was carried out in PubMed Medline, Scopus, Web of Science, CINAHL and SciELO. Observational studies that assessed postural balance in patients with FMS compared to healthy subjects in baseline conditions, were selected. In a random-effect model, the pooled effect was calculated with the Standardized Mean Difference (SMD) and its 95% confidence interval (CI). Nineteen studies reporting data of 2347 participants (95% female) were included. FMS patients showed poor balance with a large effect on static (SMD = 1.578; 95% CI = 1.164, 1.992), dynamic (SMD = 0.946; 95% CI = 0.598, 1.294), functional balance (SMD = 1.138; 95% CI = 0.689, 1.588) and on balance confidence (SMD = 1.194; 95% CI = 0.914, 1.473). Analysis of the Sensory Organization Test showed large alteration of vestibular (SMD = 1.631; 95% CI = 0.467, 2.795) and visual scores (SMD = 1.317; 95% CI = 0.153, 2.481) compared to healthy controls. Patients with FMS showed worse scores for different measures of postural balance compared to healthy controls. Concretely, FMS patients appear to have poor vestibular and visual scores with a possible somatosensory dependence. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis, Treatment and Management)
Show Figures

Figure 1

17 pages, 668 KiB  
Review
A Narrative Review of the Classification and Use of Diagnostic Ultrasound for Conditions of the Achilles Tendon
by Sheryl Mascarenhas
Diagnostics 2020, 10(11), 944; https://doi.org/10.3390/diagnostics10110944 - 13 Nov 2020
Cited by 11 | Viewed by 7214
Abstract
Enthesitis is a cardinal feature of spondyloarthropathies. The Achilles insertion on the calcaneus is a commonly evaluated enthesis located at the hindfoot, generally resulting in hindfoot pain and possible tendon enlargement. For decades, diagnosis of enthesitis was based upon patient history of hindfoot [...] Read more.
Enthesitis is a cardinal feature of spondyloarthropathies. The Achilles insertion on the calcaneus is a commonly evaluated enthesis located at the hindfoot, generally resulting in hindfoot pain and possible tendon enlargement. For decades, diagnosis of enthesitis was based upon patient history of hindfoot or posterior ankle pain and clinical examination revealing tenderness and/or enlargement at the site of the tendon insertion. However, not all hindfoot or posterior ankle symptoms are related to enthesitis. Advanced imaging, including magnetic resonance imaging (MRI) and ultrasound (US), has allowed for more precise evaluation of hindfoot and posterior ankle conditions. Use of US in diagnosis has helped confirm some of these cases but also identified other conditions that may have otherwise been misclassified without use of advanced imaging diagnostics. Conditions that may result in hindfoot and posterior ankle symptoms related to the Achilles tendon include enthesitis (which can include retrocalcaneal bursitis and insertional tendonopathy), midportion tendonopathy, paratenonopathy, superficial calcaneal bursitis, calcaneal ossification (Haglund deformity), and calcific tendonopathy. With regard to classification of these conditions, much of the existing literature uses confusing nomenclature to describe conditions in this region of the body. Some terminology may imply inflammation when in fact there may be none. A more uniform approach to classifying these conditions based off anatomic location, symptoms, clinical findings, and histopathology is needed. There has been much debate regarding appropriate use of tendonitis when there is no true inflammation, calling instead for use of the terms tendinosis or tendonopathy. To date, there has not been clear examination of a similar overuse of the term enthesitis in conditions where there is no underlying inflammation, thus raising the need for more comprehensive taxonomy. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis, Treatment and Management)
Show Figures

Figure 1

15 pages, 2590 KiB  
Review
Ultrasound as a Biomarker in Rheumatic Diseases
by Kai Quin and Hareth M. Madhoun
Diagnostics 2020, 10(11), 933; https://doi.org/10.3390/diagnostics10110933 - 10 Nov 2020
Cited by 3 | Viewed by 5659
Abstract
Rheumatic diseases are a heterogeneous group of disorders which often affect the musculoskeletal system. Given the lack of definitive testing, there are limited diagnostic tools at clinicians’ disposal. Over the recent decades, ultrasonography has gained widespread use within rheumatology due to its accessibility, [...] Read more.
Rheumatic diseases are a heterogeneous group of disorders which often affect the musculoskeletal system. Given the lack of definitive testing, there are limited diagnostic tools at clinicians’ disposal. Over the recent decades, ultrasonography has gained widespread use within rheumatology due to its accessibility, safety, and relatively low cost. This review describes the clinical utility of ultrasound as a biomarker in the diagnosis and management of several rheumatic diseases. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis, Treatment and Management)
Show Figures

Figure 1

Other

Jump to: Review

6 pages, 1836 KiB  
Case Report
Sjogren’s Syndrome Presenting with Solely Cutaneous Features
by Sneha Centala, Joyce H. Park and Diana Girnita
Diagnostics 2021, 11(7), 1260; https://doi.org/10.3390/diagnostics11071260 - 14 Jul 2021
Cited by 1 | Viewed by 5444
Abstract
Sjogren’s syndrome is classically characterized by symptoms of keratoconjunctivitis sicca and xerostomia, secondary to lymphocytic infiltration of the salivary and lacrimal glands. Cutaneous findings of this disease are infrequently discussed and thus rarely considered among patients without the typical symptomatology. However, these patients [...] Read more.
Sjogren’s syndrome is classically characterized by symptoms of keratoconjunctivitis sicca and xerostomia, secondary to lymphocytic infiltration of the salivary and lacrimal glands. Cutaneous findings of this disease are infrequently discussed and thus rarely considered among patients without the typical symptomatology. However, these patients can develop xerosis, alopecia, vitiligo, papular or nodular lesions, or cutaneous vasculitis. A 56-year-old Asian female presented with intermittent cutaneous erythematous lesions of her bilateral pinna and preauricular areas. Despite initial symptom presentation causing concern for tumid lupus versus cutaneous T cell lymphoma versus relapsing polychondritis, extensive serologic and histopathologic workup eventually indicated a likely diagnosis of Sjogren’s syndrome. This case brings to light that Sjogren’s syndrome is truly a multi-systemic disease and can present with primarily extra glandular cutaneous symptoms. When approaching the workup of a new patient, it is absolutely vital to maintain a broad differential and keep in mind that overlap syndromes among multiple autoimmune diseases do exist as well. Full article
(This article belongs to the Special Issue Rheumatic Diseases: Diagnosis, Treatment and Management)
Show Figures

Figure 1

Back to TopTop