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Diagnostics
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Sarcoidosis: From Diagnosis to Management
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Sarcoidosis: From Diagnosis to Management

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 30 November 2025 | Viewed by 4257

Special Issue Editor

Dr. Huzaifa I. Adamali

E-Mail Website
Guest Editor
Bristol Interstitial Lung Disease, North Bristol Trust, Southmead Hospital, Bristol BS10 5NB, UK
Interests: lung diseases; interstitial lung disease; sarcoidosis; idiopathic pulmonary fibrosis; hypersensitivity pneumonitis; progressive interstitial lung disease; multi-disciplinary team management

Special Issue Information

Dear Colleagues,

Sarcoidosis presents a number of challenges for both diagnosis and management, making it a complex and frustrating condition for both patients and healthcare professionals.

With respect to diagnosis, (1) patients present with non-specific symptoms that can mimic other diseases, (2) there are no definitive tests for diagnosis, so it requires a multidisciplinary approach examining the presentation, imaging, and biopsies, (3) the disease can affect multiple organs, leading to diverse presentations, and (4) it is imperative to rule out other conditions with similar symptoms, including TB and lymphoma.

With respect to prognosis, this can vary widely depending on the extent and severity of organ involvement. In many cases, sarcoidosis resolves spontaneously or with minimal treatment. However, in some individuals, the disease can be chronic and lead to long-term complications, such as pulmonary fibrosis or organ dysfunction. The prognostic factors include the extent of organ involvement, the presence of symptoms, and the response to treatment.

Finally, sarcoidosis is a rare disease with a lack of public awareness that can delay early diagnosis, and there can be challenges in finding specialized healthcare providers who advocate for multi-disciplinary management. The smaller pool of patients makes it less attractive for pharmaceutical companies when it comes to investing in clinical trials. Compounded by multisystem involvement and diverse symptoms, these factors present challenges in accurately measuring the effectiveness of new treatments across the spectrum of the disease.

Despite the challenges, there are still positive developments in the field of sarcoidosis, aiming to improve diagnosis, develop more effective treatments, and understand the cause of the disease. We welcome you to submit your research work related to enhancing the precision of sarcoidosis diagnosis and prognosis and predicting target organ involvement.

Dr. Huzaifa I. Adamali
Guest Editor

Letter from Sarcoidosis UK: Sarcoidosis affects everyone differently, which can make both diagnosis and management difficult. Due to the complicated and varied nature of sarcoidosis, many patients wait a long time to be diagnosed and are often misdiagnosed. Once diagnosed, patients face the difficult news that there is no known cure, and effective treatment can be complicated and potentially toxic. Any research into sarcoidosis could be life-changing for patients, whether examining our understanding of the disease or developing more effective treatments or diagnostic tools. We have been pleased to see the recent increased interest in sarcoidosis-specific research and clinical trials. We welcome submissions from various fields in the hope that this Special Issue can inspire further research and development to help improve outcomes for patients.

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. 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.

Keywords

  • sarcoidosis
  • granulomas
  • interstitial lung disease
  • lung
  • heart
  • skin
  • liver
  • neurological
  • joints
  • diagnosis imaging
  • PET/CT
  • chest X-ray

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Published Papers (3 papers)

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Review

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14 pages, 1577 KiB  
Review
Rheumatic Manifestations of Sarcoidosis
by Julia Day and Philip D. H. Hamann
Diagnostics 2024, 14(24), 2842; https://doi.org/10.3390/diagnostics14242842 - 17 Dec 2024
Viewed by 2392
Abstract
Sarcoidosis is a multisystem granulomatous inflammatory disorder, of unknown aetiology, which causes a wide spectrum of clinical phenotypes. It can present at any age, most commonly between 20 and 60 years, with a roughly equal sex distribution. Diagnosis is often delayed due to [...] Read more.
Sarcoidosis is a multisystem granulomatous inflammatory disorder, of unknown aetiology, which causes a wide spectrum of clinical phenotypes. It can present at any age, most commonly between 20 and 60 years, with a roughly equal sex distribution. Diagnosis is often delayed due to multiple diagnostic mimics, particularly joint disease. Common presenting features include pulmonary disease, with bilateral hilar lymphadenopathy and pulmonary infiltrates, cutaneous lesions, and ocular disease. Musculoskeletal manifestations are reported in 10–40% of patients with sarcoidosis and include bone lesions, acute arthritis, chronic arthritis, axial disease, dactylitis, and sarcoid myopathy, which are explored in detail in this review article. Diagnosis is confirmed through histological evidence of non-caseating granuloma on tissue biopsy. Newer imaging modalities, including 18FFDG PET/CT, can help identify the extent of musculoskeletal involvement, and biomarkers can provide weight to a diagnosis, but there is no single biomarker with prognostic value for disease monitoring. The mainstay of treatment remains corticosteroids, followed by disease-modifying antirheumatic drugs such as methotrexate and antimalarials. More recently, biologic treatments have been used successfully in the treatment of sarcoidosis with rheumatic involvement. Full article
(This article belongs to the Special Issue Sarcoidosis: From Diagnosis to Management)
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Other

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21 pages, 4416 KiB  
Systematic Review
Diagnostic Value of Comprehensive Echocardiographic Assessment Including Speckle-Tracking in Patients with Sarcoidosis Versus Healthy Controls: A Systematic Review and Meta-Analysis
by Hritvik Jain, Maryam Shahzad, Muneeba Ahsan, Rahul Patel, Jagjot Singh, Ramez M. Odat, Aman Goyal, Raveena Kelkar, Nishad Barve, Hina Farrukh and Raheel Ahmed
Diagnostics 2025, 15(6), 708; https://doi.org/10.3390/diagnostics15060708 - 12 Mar 2025
Viewed by 673
Abstract
Background: Cardiac involvement in sarcoidosis is often subclinical, with late manifestations associated with poorer prognosis. Speckle-tracking echocardiography (STE) is gaining attention due to its ability to detect subclinical alterations in myocardial contraction patterns and quantification of abnormal parameters. Methods: Databases, including [...] Read more.
Background: Cardiac involvement in sarcoidosis is often subclinical, with late manifestations associated with poorer prognosis. Speckle-tracking echocardiography (STE) is gaining attention due to its ability to detect subclinical alterations in myocardial contraction patterns and quantification of abnormal parameters. Methods: Databases, including PubMed, Cochrane Central, Embase, Scopus, and Web of Science, were searched to identify studies comparing echocardiographic parameters in sarcoidosis patients with healthy controls. Mean difference (MD) with 95% confidence intervals (CI) were pooled using the inverse-variance random-effects model in Review Manager Version 5.4.1. Statistical significance was considered at p-value <0.05. Results: Thirteen studies with 1416 participants (854—sarcoidosis; 562—healthy controls) were included. In a pooled analysis, patients with sarcoidosis demonstrated a significantly lower left ventricular global longitudinal strain (LV GLS) (Mean Difference [MD]: −3.60; 95% Confidence Interval [CI]: −4.76, −2.43; p < 0.0001) and left ventricular global circumferential strain (LV GCS) (MD: −2.52; 95% CI: −4.61, −0.43; p = 0.02), along with a significantly higher pulmonary artery systolic pressure (PASP) (MD: 4.19; 95% CI: 0.08, 8.29; p = 0.05), left ventricular end-systolic diameter (LVESD) (MD: 0.90; 95% CI: 0.10, 1.71; p = 0.03), A-wave velocity (MD: 3.36; 95% CI: 0.33, 6.39; p = 0.03), and E/E’ ratio (MD: 1.33; 95% CI: 0.42, 2.23; p = 0.004) compared to healthy controls. No significant differences were noted in left ventricular ejection fraction (LVEF), left ventricular global radial strain (LV GRS), interventricular septal thickness (IVST), tricuspid annular plane systolic excursion (TAPSE), left ventricular end-diastolic diameter (LVEDD), E-wave velocity, and E/A ratio. Conclusions: STE serves as a promising imaging modality in detecting subclinical cardiac involvement in sarcoidosis patients with no overt cardiac manifestations. A widespread cardiovascular evaluation of sarcoidosis patients with STE is recommended to detect these altered myocardial contractile patterns. The early detection of cardiac sarcoidosis is essential to prevent adverse clinical outcomes and improve mortality. Full article
(This article belongs to the Special Issue Sarcoidosis: From Diagnosis to Management)
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17 pages, 3022 KiB  
Systematic Review
Detection of Myocardial Deformation Patterns and Prognostic Value of Routine Echocardiographic Parameters in Patients with Cardiac Sarcoidosis Versus Extracardiac Sarcoidosis: Systematic Review and Meta-Analysis
by Hritvik Jain, Maryam Shahzad, Muhammad Usman, Anil KC, Jagjot Singh, Jyoti Jain, Ramez M. Odat, Aman Goyal, Faizan Ahmed and Raheel Ahmed
Diagnostics 2025, 15(5), 518; https://doi.org/10.3390/diagnostics15050518 - 20 Feb 2025
Viewed by 576
Abstract
Background: Sarcoidosis is a multisystem disorder characterized by non-caseating granulomas in various organs. While cardiac sarcoidosis (CS) is clinically rare, it has significant implications, including heart failure, ventricular arrhythmias, and sudden cardiac death. Speckle-tracking echocardiography has emerged as a promising tool for detecting [...] Read more.
Background: Sarcoidosis is a multisystem disorder characterized by non-caseating granulomas in various organs. While cardiac sarcoidosis (CS) is clinically rare, it has significant implications, including heart failure, ventricular arrhythmias, and sudden cardiac death. Speckle-tracking echocardiography has emerged as a promising tool for detecting subclinical myocardial dysfunction, which is cost-efficient and readily available. This meta-analysis aims to evaluate differences in functional echocardiographic parameters between patients with CS and extracardiac sarcoidosis (ECS) to improve early recognition and management. Methods: A comprehensive search of major bibliographic databases was conducted to identify studies up to December 2024. Mean differences (MDs) with 95% CIs were pooled using the inverse-variance random-effect model. Results: Seven studies with 478 patients with sarcoidosis (CS: 159 and ECS: 319) were included. Patients with CS had a significant reduction in left ventricular global longitudinal strain (MD: −2.73; 95% CI: −4.09, −1.38; p < 0.0001) and tricuspid annular plane systolic excursion (MD: −0.59; 95% CI: −1.12, −0.05; p = 0.03) compared to patients with ECS. No significant differences in the LV global circumferential strain, interventricular septum thickness, left ventricular ejection fraction, E/A ratio, E/E’ ratio, LV end-diastolic diameter, and LV end-systolic diameter were noted. Conclusions: LV GLS and TAPSE are promising parameters for the early detection of cardiac involvement in sarcoidosis, with significant prognostic implications. Although STE provides a cost-effective and accessible alternative to CMR and FDG-PET, further research is needed to standardize its use and validate diagnostic cut-offs. Full article
(This article belongs to the Special Issue Sarcoidosis: From Diagnosis to Management)
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