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Diagnostics
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Lung Involvement in Connective Tissue Disease: Diagnosis and Management
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Lung Involvement in Connective Tissue Disease: Diagnosis 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 March 2025) | Viewed by 5000

Special Issue Editor

Dr. Laura Groșeanu

E-Mail Website
Guest Editor
Department of Internal Medicine Rheumatology, University of Medicine and Pharmacy "Carol Davila", Bucharest, Romania
Interests: systemic sclerosis; rheumatoid polyarthritis; rheumatism; systemic lupus erythematosus

Special Issue Information

Dear Colleagues,

Interstitial lung disease (ILD) is a frequent complication of connective tissue disease (CTD) with a significant impact on morbidity and mortality. Although ILD is reported in all CTDs, there is substantial variability in the prevalence and pattern of ILD subtypes.

The complex etiology of CTD-ILD includes genetic risks, epigenetic changes, and dysregulated immunity, which interact. CTD-ILD exhibits a broad spectrum of clinical manifestations; the disease course features remissions and relapses. It can range from stability or slow progression over several years to rapid deterioration.

Significant work has been undertaken to better characterise ILD prevalence, risk factors, and frequency of specific CT patterns and establish treatment guidelines. Still, rheumatologists are faced with several challenges: (a) the precise mechanisms that drive CTD-ILD remain unclear, (b) it is easy to miss ILD diagnosis as symptoms are frequently masked by the rheumatic condition, (c) except for systemic sclerosis, there is no standard protocol for screening and assessing disease progression, there are no effective methods or biomarkers to determine whether the patient’s deterioration is due to the progression of ILD or other reasons, such as infection or drug-induced causes; (d) CTD-ILD is difficult to treat, requiring vigorous effort and a multidisciplinary team.

Dr. Laura Groșeanu
Guest Editor

Manuscript Submission Information

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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

  • interstitial lung disease
  • connective tissue disease
  • complication
  • etiology
  • genetic risks
  • epigenetic changes
  • dysregulated immunity
  • CT patterns
  • mechanisms
  • screening
  • assessing
  • biomarkers

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Published Papers (3 papers)

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Review

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13 pages, 2606 KiB  
Review
The Role of Nailfold Videocapillaroscopy in the Diagnosis and Monitoring of Interstitial Lung Disease Associated with Rheumatic Autoimmune Diseases
by Daniela Anghel, Oana-Georgiana Prioteasă, Iulia-Nadine Nicolau, Săndica Bucurică, Daniela-Opriș Belinski, Gilda-Georgeta Popescu, Minerva Claudia Ghinescu, Anca Bobircă, Maria-Laura Groșeanu and Violeta-Claudia Bojincă
Diagnostics 2025, 15(3), 362; https://doi.org/10.3390/diagnostics15030362 - 4 Feb 2025
Viewed by 1011
Abstract
Interstitial lung disease (ILD) is a severe complication of certain connective tissue diseases (CTDs) such as systemic sclerosis (SSc), mixed connective tissue disease (MCTD), idiopathic inflammatory myopathies (IIM), rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), and it is associated with nailfold videocapillaroscopy [...] Read more.
Interstitial lung disease (ILD) is a severe complication of certain connective tissue diseases (CTDs) such as systemic sclerosis (SSc), mixed connective tissue disease (MCTD), idiopathic inflammatory myopathies (IIM), rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), and it is associated with nailfold videocapillaroscopy (NVC) changes and increased morbidity and mortality rates. Early diagnosis is crucial in order to prevent the progression of ILD, prevent respiratory failure and enhance the patient’s overall quality of life. The most common paraclinical investigations are high-resolution computed tomography (HRCT) and functional respiratory tests such as forced vital capacity (FVC) and the diffusing capacity of the lungs for carbon monoxide (DLCO). The most frequent CTD associated with both ILD and NVC changes is systemic sclerosis. The “late” scleroderma pattern was the most common abnormality identified in NVC results in SSc patients. Other autoimmune diseases were also correlated with ILD and NVC changes, especially when the Raynaud phenomenon was present. Low capillary density was associated with the presence and severity of ILD and a reduction in FVC and DLCO. NVC can also differentiate the capillaroscopic changes in some particular types of ILD, such as the usual interstitial pneumonia (UIP) pattern from the non-specific interstitial pneumonia (NSIP) pattern. Nevertheless, further extensive research is necessary in order to establish the diagnostic value of NVC in CTD-ILD in clinical practice. Full article
(This article belongs to the Special Issue Lung Involvement in Connective Tissue Disease: Diagnosis and Management)
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15 pages, 579 KiB  
Review
COPA Syndrome—From Pathogenesis to Treatment
by Vlad Padureanu, Mircea-Cătălin Forțofoiu, Ionut Donoiu, Eugen-Nicolae Tieranu, Catalin Dumitrascu, Rodica Padureanu, Anca Emanuela Mușetescu, Cristina Alexandru, Carmen Catalina Iorgus, Florin Bobirca, Ana Dascalu and Anca Bobirca
Diagnostics 2024, 14(24), 2819; https://doi.org/10.3390/diagnostics14242819 - 14 Dec 2024
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Abstract
Coatomer subunit α (COPA) syndrome is a mendelian autosomal dominant immune dysregulation disease characterized by early onset lung disease in the form of diffuse alveolar hemorrhaging or interstitial lung disease, frequently associated with arthritis, glomerulonephritis, and high titer autoantibodies usually mimicking other autoimmune [...] Read more.
Coatomer subunit α (COPA) syndrome is a mendelian autosomal dominant immune dysregulation disease characterized by early onset lung disease in the form of diffuse alveolar hemorrhaging or interstitial lung disease, frequently associated with arthritis, glomerulonephritis, and high titer autoantibodies usually mimicking other autoimmune diseases. While immunosuppressive medication has been effective in controlling arthritis, data on long-term lung disease control remains scarce, which poses a real challenge as the progression of lung disease is the main cause of poor life expectancy in COPA patients. Nevertheless, JAK inhibitor therapy seems to be the most promising therapeutic choice now. Full article
(This article belongs to the Special Issue Lung Involvement in Connective Tissue Disease: Diagnosis and Management)
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Other

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15 pages, 542 KiB  
Systematic Review
A Systematic Review of the Key Predictors of Progression and Mortality of Rheumatoid Arthritis-Associated Interstitial Lung Disease
by Laura Groseanu and Cristina Niță
Diagnostics 2024, 14(17), 1890; https://doi.org/10.3390/diagnostics14171890 - 28 Aug 2024
Cited by 4 | Viewed by 1918
Abstract
Background: Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is an important extra-articular manifestation of rheumatoid arthritis (RA). Identifying patients at risk of progression and death is crucial for improving RA-ILD management and outcomes. This paper explores current evidence on prognostic factors in RA-ILD. Methods: [...] Read more.
Background: Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is an important extra-articular manifestation of rheumatoid arthritis (RA). Identifying patients at risk of progression and death is crucial for improving RA-ILD management and outcomes. This paper explores current evidence on prognostic factors in RA-ILD. Methods: We conducted a systematic literature review to examine the impact of clinical, radiological, and histological factors on lung function decline and the survival of RA-ILD patients. We searched electronic databases, including Medline and EMBASE, from inception to date. The incidence and prognosis of predictors were qualitatively analyzed, and univariate results were combined when feasible. Following the “Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)” guidelines, our systematic literature review involved a five-step algorithm. Out of 2217 records, 48 studies were eligible. These studies reported various prognostic factors, including demographic variables, clinical risk factors, serum markers, and preexisting treatments. Results: Lung function declined over time in 1225 subjects, with significant variability in smoking history and radiological/pathological UIP patterns. Severe lung fibrosis and abnormal pulmonary function tests (PFTs) were key univariate prognostic indicators, while age at initial presentation, RA disease activity, predicted DLCO percentage, and UIP pattern were the most reliable multivariate risk factors for ILD progression. Age, male gender, disease duration, RA activity, acute phase reactants, and specific serum biomarkers (Krebs vin den Lungen 6, surfactant protein D, and interleukin 6) were significantly associated with all-cause mortality. Conclusions: RA-ILD is a severe complication of RA characterized by significant prognostic variability. Key prognostic factors include extensive fibrosis observed on imaging, a marked decline in lung function, high RA disease activity, and specific biomarkers. These factors can guide treatment strategies and improve patient outcomes. Full article
(This article belongs to the Special Issue Lung Involvement in Connective Tissue Disease: Diagnosis and Management)
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