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Personalized Medicine for Rheumatic Diseases
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Personalized Medicine for Rheumatic Diseases

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Personalized Therapy in Clinical Medicine".

Deadline for manuscript submissions: 25 June 2026 | Viewed by 9165

Special Issue Editors

Dr. Rossella De Angelis

E-Mail Website
Guest Editor
Department of Clinical and Molecular Sciences, Polytechnic University of Marche, 60035 Jesi (AN), Italy
Interests: systemic sclerosis; nailfold capillaroscopy; microcirculation in rheumatic diseases
Prof. Dr. Marco Di Carlo

E-Mail Website
Guest Editor
Department of Clinical and Molecular Sciences, Polytechnic University of Marche, 60035 Jesi (AN), Italy
Interests: clinimetrics; patient-reported outcome measures in rheumatic diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Emilio Filippucci

E-Mail Website
Guest Editor
Department of Clinical and Molecular Sciences, Polytechnic University of Marche, 60035 Jesi, Italy
Interests: ultrasound in rheumatic and musculo-skeletal diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue highlights and discusses the recent findings on rheumatic diseases, including the methodologies and tools used to detect, diagnose and manage the clinical counterpart of these diseases. The contributions reveal the importance of multidisciplinary teams that utilise the expertises of laboratory, clinical, imaging and clinimetry researchers while trying to fill the gaps in the knowledge about this topic, promising a great and exciting future in this field.

We strongly encourage researchers to contribute to this Special Issue and share novel approaches to the diagnosis and treatment of rheumatic diseases.

Dr. Rossella De Angelis
Prof. Dr. Marco Di Carlo
Dr. Emilio Filippucci
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 250 words) can be sent to the Editorial Office for assessment.

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 Personalized Medicine 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 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

  • chronic arthritis
  • rheumatoid arthritis
  • seronegative arthritis
  • crystal arthropathies
  • connective tissue diseases
  • autoimmunity
  • laboratory medicine
  • ultrasound
  • nailfold capillaroscopy
  • clinimetric tools

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (5 papers)

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Research

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12 pages, 841 KB  
Article
The Role of Kidney Biopsy as a Tool for Personalized Treatment Decision-Making in Patients with Anti-Neutrophil Cytoplasmic Antibody (ANCA)-Associated Nephritis
by Makoto Harada, Shotaro Aso, Takayuki Nimura, Kosuke Yamaka, Daiki Aomura, Aiko Yamada, Kosuke Sonoda, Akinori Yamaguchi, Yutaka Kamimura, Tohru Ichikawa, Mamoru Kobayashi, Koji Hashimoto and Yuji Kamijo
J. Pers. Med. 2026, 16(3), 153; https://doi.org/10.3390/jpm16030153 - 7 Mar 2026
Viewed by 574
Abstract
Background/Objectives: Personalized treatment approaches are increasingly recognized as essential in the management of anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV), given the substantial heterogeneity in disease severity and patient characteristics. Kidney biopsy has the potential to serve as an effective tool for personalized treatment [...] Read more.
Background/Objectives: Personalized treatment approaches are increasingly recognized as essential in the management of anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV), given the substantial heterogeneity in disease severity and patient characteristics. Kidney biopsy has the potential to serve as an effective tool for personalized treatment decision-making in patients with AAV. This study aimed to investigate the association of kidney biopsy with intensive immunosuppressive therapy and clinical outcomes in patients with AAV and kidney impairment. Methods: In this retrospective study, propensity score overlap weighting was applied to compare intensive immunosuppressive therapy and clinical outcomes (ESKD, death, combined ESKD and death, and infectious complications) between patients with AAV who underwent kidney biopsy and those who did not. Results: Out of 74 patients with AAV, 38 underwent kidney biopsy. Overlap weight analysis revealed that kidney biopsy was significantly associated with intensive immunosuppressive therapy (risk difference [RD], 28.9%; 95% confidence interval [CI], 0.017 to 0.562). Kidney biopsy was not associated with combined ESKD and death (RD, −0.2%; 95% CI, −0.302 to 0.298), death (RD, −3.8%; 95% CI, −0.264 to 0.189), ESKD (RD, −7.3%; 95% CI, −0.353 to 0.207), and infectious complications (RD, −25.9%; 95% CI, −0.537 to 0.020). Conclusions: In this observational cohort, kidney biopsy was associated with intensification of immunosuppressive therapy. However, after adjustment using overlap weighting, no statistically significant difference in clinical outcomes was detected, and the reduced effective sample size limited statistical power. These findings should be interpreted cautiously, as causal inference regarding the prognostic impact of kidney biopsy remains limited. Full article
(This article belongs to the Special Issue Personalized Medicine for Rheumatic Diseases)
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11 pages, 613 KB  
Article
Factors Associated with Difficult-to-Treat Rheumatoid Arthritis (D2T-RA): Real-World Evidence from a Single-Center Cross-Sectional Study
by Maurizio Benucci, Francesca Li Gobbi, Emanuele Antonio Maria Cassarà, Riccardo Terenzi, Elisa Cioffi, Christian D’Elia, Sabrina Aliberti, Serena Guiducci, Edda Russo, Barbara Lari, Valentina Grossi, Maria Infantino and Mariangela Manfredi
J. Pers. Med. 2026, 16(2), 65; https://doi.org/10.3390/jpm16020065 - 29 Jan 2026
Viewed by 768
Abstract
Background: Rheumatoid arthritis (RA) is a chronic, systemic autoimmune disease characterized by persistent synovial inflammation and progressive joint destruction. Despite the implementation of the treat-to-target (T2T) strategy and the introduction of several classes of biologic and targeted synthetic disease-modifying antirheumatic drugs (b/tsDMARDs), [...] Read more.
Background: Rheumatoid arthritis (RA) is a chronic, systemic autoimmune disease characterized by persistent synovial inflammation and progressive joint destruction. Despite the implementation of the treat-to-target (T2T) strategy and the introduction of several classes of biologic and targeted synthetic disease-modifying antirheumatic drugs (b/tsDMARDs), a considerable proportion of patients continues to exhibit active, refractory disease. In 2021, the European Alliance of Associations for Rheumatology (EULAR) defined this condition as Difficult-to-Treat Rheumatoid Arthritis (D2T-RA). This study aimed to identify clinical, laboratory, and therapeutic factors associated with D2T-RA. Methods: A total of 344 patients with established RA were retrospectively evaluated. Among them, 164 fulfilled the 2021 EULAR criteria for D2T-RA (D2T group), while 180 did not (NO-D2T group). Clinical (age, sex, disease duration, BMI, smoking, comorbidities), laboratory (RF, ACPA, ESR, CRP), clinimetric (DAS28, CDAI, PhGA, PGA, HAQ), and therapeutic data (glucocorticoid use, methotrexate treatment and dose, monotherapy, advanced therapy exposure, number of failed advanced therapies, current DMARD regimen) were analyzed. Results: Factors significantly associated with D2T-RA included female sex, longer disease duration, higher RF and ACPA titers, elevated ESR levels, glucocorticoid therapy, and a greater number of failed advanced therapies. Although both groups achieved low disease activity or remission by DAS28 and CDAI, JAK inhibitors—particularly Filgotinib and Upadacitinib—were significantly more common in the D2T cohort and appeared associated with clinical stabilization. Conclusions: This study strengthens the understanding of the predictive profile of D2T-RA, confirming the role of disease chronicity and persistent inflammation in the development of treatment resistance. Importantly, the observed trend toward clinical stabilization achieved under JAK inhibitor therapy reinforces their potential to address unmet therapeutic needs in D2T-RA, providing a mechanistically grounded strategy for patients refractory to conventional and biologic DMARDs. Full article
(This article belongs to the Special Issue Personalized Medicine for Rheumatic Diseases)
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15 pages, 1426 KB  
Article
Low-Carbon Monoxide Diffusing Capacity, Patient-Reported Measures and Reduced Nailfold Capillary Density Are Associated with Interstitial Lung Disease in Systemic Sclerosis
by Rossella De Angelis, Edoardo Cipolletta, Francesca Francioso, Marina Carotti, Sonia Farah, Andrea Giovagnoni and Fausto Salaffi
J. Pers. Med. 2024, 14(6), 635; https://doi.org/10.3390/jpm14060635 - 14 Jun 2024
Cited by 1 | Viewed by 1474
Abstract
The aim of this paper is to identify factors associated with interstitial lung disease (ILD) in patients with systemic sclerosis (SSc) and build an algorithm to better define this association for a personalised application in clinical practice. Methods. A total of 78 SSc [...] Read more.
The aim of this paper is to identify factors associated with interstitial lung disease (ILD) in patients with systemic sclerosis (SSc) and build an algorithm to better define this association for a personalised application in clinical practice. Methods. A total of 78 SSc patients underwent HRCT to assess ILD. Demographic, clinical and laboratory variables were collected, focusing on those associated either directly or indirectly with lung involvement. The discriminant value of each variable was determined using the operating characteristic curves (ROC) and included in a model to estimate the strength of ILD association in SSc. Results. Thirty-three (42.31%) patients showed ILD on HRCT. DLco, M-Borg, GERD-Q and capillary density were significantly associated with the presence of ILD-SSc. A model including these variables had a coefficient of determination (R2) of 0.697. DLco had an AUC of 0.861 (p < 0.001) with a cut-off of ≤72.3% (sensitivity 78.8%, specificity 91.1%, +LR 8.86). The m-Borg Scale showed an AUC of 0.883 (p < 0.001) with a cut-off >2 (sensitivity 84.8%, specificity 82.2%, +LR 4.77), GERD-Q had an AUC of 0.815 (p < 0.001) with a cut-off >7 (sensitivity 72.7%, specificity 86.7%, +LR 5.45). The capillary density showed an AUC of 0.815 (p < 0.001) with a cut-off of ≤4.78 (sensitivity 87.9%, specificity 68.9%, +LR 2.82). Based on the pre-test probability values, these four variables were applied to Fagan’s nomogram to calculate the post-test probability of this association. Conclusions. Our study identified four associated clinical factors of ILD in SSc patients. Moreover, their inclusion in an algorithm for the post-test probability, tailored to the specific patients’ characteristics, significantly increases the ability to find out the presence of SSc-ILD. Full article
(This article belongs to the Special Issue Personalized Medicine for Rheumatic Diseases)
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Review

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20 pages, 357 KB  
Review
Current Approaches to the Management of Rheumatic Diseases in Pregnancy: Risk Stratification, Therapeutic Advances, and Maternal–Fetal Outcomes
by Aikaterini-Gavriela Giannakaki, Maria-Nektaria Giannakaki, Anastasia Bothou, Konstantinos Nikolettos, Nikolaos Machairiotis, Kalliopi I. Pappa and Panagiotis Tsikouras
J. Pers. Med. 2025, 15(9), 406; https://doi.org/10.3390/jpm15090406 - 1 Sep 2025
Cited by 2 | Viewed by 2661
Abstract
Background: Autoimmune rheumatic diseases, including systemic lupus erythematosus (SLE), antiphospholipid syndrome (APS), Sjögren’s syndrome, systemic sclerosis (SSc), and rheumatoid arthritis (RA), pose significant challenges during pregnancy and are associated with increased risks of adverse maternal and fetal outcomes, such as preeclampsia, fetal growth [...] Read more.
Background: Autoimmune rheumatic diseases, including systemic lupus erythematosus (SLE), antiphospholipid syndrome (APS), Sjögren’s syndrome, systemic sclerosis (SSc), and rheumatoid arthritis (RA), pose significant challenges during pregnancy and are associated with increased risks of adverse maternal and fetal outcomes, such as preeclampsia, fetal growth restriction (FGR), miscarriage, and preterm birth. The aim of this review is to synthesize recent evidence on pregnancy-related risks, preconception counseling, and therapeutic strategies for these conditions, with a particular focus on the importance of disease remission, pregnancy-compatible medications, and the selective use of biologics. Methods: A structured narrative review was conducted through a comprehensive PubMed search (2020–2025). Eligible studies addressed maternal–fetal outcomes, therapeutic approaches, and predictive factors in pregnant individuals with autoimmune rheumatic diseases. Results: Pregnancy outcomes have improved with early disease control and multidisciplinary care; however, major challenges persist. These include limited access to novel therapies, underrepresentation of diverse populations in clinical trials, and insufficient data on long-term neonatal outcomes. The strongest predictors of adverse outcomes remain disease activity at conception, specific autoantibody profiles, and systemic organ involvement. Conclusions: Optimal pregnancy outcomes for women with autoimmune rheumatic diseases require coordinated multidisciplinary care, the use of pregnancy-compatible medications, and achievement of prolonged disease remission prior to conception. Further research is needed to close existing knowledge gaps and ensure equitable, high-quality maternal–fetal care. Full article
(This article belongs to the Special Issue Personalized Medicine for Rheumatic Diseases)
15 pages, 4918 KB  
Review
Ultrasonographic Assessment of Calcium Pyrophosphate Deposition Disease: A Comprehensive Review
by Lissiane Karine Noronha Guedes, Letícia Queiroga de Figueiredo, Fernanda Oliveira de Andrade Lopes, Luis Fernando Fernandes Ferrari and Karina Rossi Bonfiglioli
J. Pers. Med. 2025, 15(7), 280; https://doi.org/10.3390/jpm15070280 - 1 Jul 2025
Viewed by 2707
Abstract
Calcium pyrophosphate deposition disease (CPPD) is a common crystal arthropathy characterized by the deposition of calcium pyrophosphate crystals in joints and soft tissues. Ultrasonography (US) has emerged as a valuable imaging modality for diagnosing CPPD, offering real-time visualization of crystal deposits and joint [...] Read more.
Calcium pyrophosphate deposition disease (CPPD) is a common crystal arthropathy characterized by the deposition of calcium pyrophosphate crystals in joints and soft tissues. Ultrasonography (US) has emerged as a valuable imaging modality for diagnosing CPPD, offering real-time visualization of crystal deposits and joint inflammation. In the context of personalized medicine, US plays a critical role in enabling individualized patient assessment, facilitating early and accurate diagnosis, and supporting tailored therapeutic decisions based on specific imaging findings. This article reviews the ultrasonographic features of CPPD, their diagnostic utility, and clinical applications, emphasizing the relevance of US in stratifying patients and guiding personalized management approaches. Full article
(This article belongs to the Special Issue Personalized Medicine for Rheumatic Diseases)
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