Sarcoidosis: Diagnosis, Management, and Prognosis

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 October 2024) | Viewed by 2155

Special Issue Editor


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Guest Editor
Karolinska Institutet, Center for Molecular Medicine, Karolinska University Hospital, Stockholm, Sweden
Interests: meta-analysis; complex diseases; autoimmune diseases; genetics, epigenetics; immunogenetics; gene expression, single-cell transcriptomics; molecular medicine; biomarker discovery; molecular mechanisms of disease; personalized medicine

Special Issue Information

Dear Colleagues,

Sarcoidosis, an enigmatic systemic inflammatory disorder, continues to intrigue and challenge the medical and scientific communities. As we navigate the complex landscape of this condition, characterized by an intricate interplay of genetics and environmental factors, we recognize that the broader context of epidemiology, populations, and risk factors plays a pivotal role in our quest for deeper insights.

While sarcoidosis predominantly affects the lungs and lymph nodes, its manifestations often extend their reach to various organs and tissues, including the skin, eyes, liver, heart, parotid gland, spleen, and beyond. The formation of granulomas, a hallmark of this disease, disrupts physiological harmony, presenting both diagnostic and therapeutic challenges. Recent research efforts spanning the past decade have illuminated the complex genetic–environmental interactions that trigger the immune system's response, providing invaluable insights into the pathogenesis of this condition.

In our current era of scientific advancement, we stand on the verge of transformative discoveries, thanks to the proliferation of high-throughput technologies, including single-nucleotide polymorphism (SNP) arrays, next-generation sequencing (NGS), and single-cell sequencing. These advancements and newfound affordability offer unprecedented opportunities to delve into the architecture of sarcoidosis and its diverse endophenotypes.

We are pleased to introduce our Research Topic, a platform dedicated to the exploration of big data and precision medicine in the context of sarcoidosis. Our mission is clear: to enhance the precision of sarcoidosis diagnosis, prognosis, and prediction of target organ involvement. We cordially invite contributions from clinicians and scientists who share our commitment to advancing our understanding of sarcoidosis. We particularly encourage submissions that delve into the transformative role of big data and precision medicine, with a keen focus on the impact of phenotyping, populations, risk factors, immunology, genetics, and environmental triggers. Together, we aim to redefine the boundaries of sarcoidosis research and clinical practice. Your expertise in these critical domains will enrich our understanding of the broader context surrounding sarcoidosis and contribute to a more comprehensive body of knowledge.

Dr. Natalia Rivera
Guest Editor

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Published Papers (1 paper)

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Review

16 pages, 8020 KiB  
Review
Contemporary Diagnostics of Cardiac Sarcoidosis: The Importance of Multimodality Imaging
by Mihailo Stjepanovic, Filip Markovic, Ivan Milivojevic, Spasoje Popevic, Sanja Dimic-Janjic, Viseslav Popadic, Dimitrije Zdravkovic, Maja Popovic, Andrea Klasnja, Aleksandra Radojevic, Dusan Radovanovic and Marija Zdravkovic
Diagnostics 2024, 14(17), 1865; https://doi.org/10.3390/diagnostics14171865 - 26 Aug 2024
Viewed by 1491
Abstract
Sarcoidosis is an inflammatory condition that can affect multiple organ systems and is characterized by the formation of non-caseating granulomas in various organs, including the heart. Due to suboptimal diagnostic rates, the true prevalence and incidence of cardiac sarcoidosis (CS) remain to be [...] Read more.
Sarcoidosis is an inflammatory condition that can affect multiple organ systems and is characterized by the formation of non-caseating granulomas in various organs, including the heart. Due to suboptimal diagnostic rates, the true prevalence and incidence of cardiac sarcoidosis (CS) remain to be determined. In patients with suspected CS, an initial examination should include 12-lead ECG or ambulatory ECG monitoring, and echocardiography with the estimation of LV, RV function, and strain rate. In patients with confirmed extracardiac sarcoidosis and with high clinical suspicion for CS, sophisticated imaging modalities, including cardiac MRI and PET, are indicated. Typical inflammation patterns and myocardial scarring should pose a high suspicion for CS. In patients without diagnosed extracardiac sarcoidosis and high clinical suspicion, although with low diagnostic probability, an endomyocardial biopsy should be considered to establish the diagnosis of definite isolated cardiac sarcoidosis. Timely diagnosis enables the initiation of therapy and close monitoring of adverse cardiac events that can be life-threatening, including sudden cardiac death, ventricular tachycardia, high-degree AV block, and heart failure. Implementing biomarkers in correlation to cardiac imaging can determine the disease’s severity and progression but can also be helpful in following the treatment response. The formation of larger global registries can be helpful in the identification of independent predictors of adverse clinical events and the development of specific diagnostic algorithms to reduce the overall risk of this serious condition. Full article
(This article belongs to the Special Issue Sarcoidosis: Diagnosis, Management, and Prognosis)
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