Sarcoidosis is an inflammatory disease characterized by the formation of granulomas in various organs, leading to inflammation and potential organ dysfunction. Symptoms often start with general signs like fatigue, fever, and weight loss, but vary depending on the affected organ. Diagnosis is challenging due to its diverse clinical presentation and lack of a definitive test, while treatment is complicated by the disease's variable course, requiring a personalized approach. This review explores the role of genetic and environmental factors in sarcoidosis etiology, examines current challenges in diagnosis and treatment, and discusses how understanding etiology informs patient management and future treatment strategies.
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http://dx.doi.org/10.3389/fmed.2025.1558049 | DOI Listing |
Front Med (Lausanne)
February 2025
School of Medicine, Royal College of Surgeons in Ireland, Busaiteen, Bahrain.
Sarcoidosis is an inflammatory disease characterized by the formation of granulomas in various organs, leading to inflammation and potential organ dysfunction. Symptoms often start with general signs like fatigue, fever, and weight loss, but vary depending on the affected organ. Diagnosis is challenging due to its diverse clinical presentation and lack of a definitive test, while treatment is complicated by the disease's variable course, requiring a personalized approach.
View Article and Find Full Text PDFNat Commun
March 2025
Unit of Cardiovascular and Nutritional Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Sarcoidosis is a complex inflammatory disease with a strong genetic component. Here, we perform a genome-wide association study in 9755 sarcoidosis cases to identify risk loci and map associated genes. We then use transcriptome-wide association studies and enrichment analyses to explore pathways involved in sarcoidosis and use Mendelian randomization to examine associations with modifiable factors and circulating biomarkers.
View Article and Find Full Text PDFPediatr Rheumatol Online J
March 2025
Paediatric Clinical Immunology, Pellegrin Hospital, INSERM CICP, University Hospital Centre of Bordeaux, Bordeaux, CIC1401, France.
Background: Non-infectious paediatric granulomatous uveitis (PGU) is a rare disease that is idiopathic in more than half of affected children. The diagnosis of definite ocular sarcoidosis (OS) must be supported by the presence of non-caseating granulomas detected in biopsy, and is therefore a challenge in children with PGU. This study investigated the utility of minor salivary gland biopsy (MSGB) in the diagnosis of definite OS in PGU.
View Article and Find Full Text PDFCureus
February 2025
Internal Medicine, AdventHealth, Orlando, USA.
Establishing the diagnosis of miliary tuberculosis (TB) can be challenging due to the heterogeneous clinical presentations and low sensitivity of diagnostic tests. Miliary TB shares overlapping clinical, radiological, and histopathological features with other chronic granulomatous diseases, such as sarcoidosis, often posing a significant diagnostic challenge for clinicians. A 36-year-old male from Haiti presented with a four-month history of recurrent fever, dry cough, night sweats, and weight loss.
View Article and Find Full Text PDFAfr J Thorac Crit Care Med
December 2024
Department of Internal Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Background: Chitotriosidase is a chitinase enzyme that is expressed selectively through activated macrophages in humans. Increased activity of chitotriosidase in both bronchoalveolar lavage samples and serum of patients with sarcoidosis has been reported. It has been proposed that chitotriosidase could be used as a potential biomarker for diagnosis, monitoring and prognosis in sarcoidosis patients.
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