Global Translational Medicine
Recent advances in the pathogenesis, diagnosis, and management of sarcoidosis: A comprehensive narrative review
By Mehmet Soy, FATMA ALİBAZ ÖNER and Muhammet Emin Kutu.
Abstract
Sarcoidosis is a heterogeneous multisystem disorder of unknown etiology, characterized by the formation of epithelial non-caseating granuloma. While pulmonary and intrathoracic lymph node involvement represent the primary clinical manifestations, the disease frequently affects extrathoracic organs, including the skin, eyes, brain, heart, and musculoskeletal system; cardiac and neurological involvement are critical determinants of overall prognosis. Recent advances in pathogenesis highlight a complex interplay between genetic predisposition, autoimmunity, and environmental triggers such as silica dust, mycobacteria, and Cutibacterium acnes. Clinically, pathognomonic presentations such as Löfgren’s syndrome and Heerfordt syndrome aid in rapid diagnosis, while modern imaging techniques such as 18F-FDG PET/CT and cardiac MRI have significantly improved the classic Scadding chest radiography staging by detailing extrathoracic disease activity. In addition, the rapid integration of artificial intelligent and machine learning technologies enhances diagnostic accuracy through automated image analysis, biomarker identification, and personalized disease course prediction. Current treatment strategies are focusing on risk-stratified management, shifting from traditional corticosteroids and immunosuppressants to targeted biological agents for organ-threatening diseases. A multidisciplinary strategy is essential for therapy and follow-up. Treatment does not need to be given to every patient. The decision regarding treatment should be made after a thorough multidisciplinary evaluation based on clinical, radiological, and additional findings. The main medication is corticosteroids; however, methotrexate, azathioprine, and in some instances, TNF-α blockers, along with various other biological agents, may be used.



