Phenotypes and Serum Biomarkers in Sarcoidosis

Abstract

Sarcoidosis is a multisystem disease, which is diagnosed on a compatible clinical presentation, non-necrotizing granulomatous inflammation in one or more tissue samples, and exclusion of alternative causes of granulomatous disease. Considering its heterogeneity, numerous aspects of the disease remain to be elucidated. In this context, the identification and integration of biomarkers may hold significance in clinical practice, aiding in appropriate selection of patients for targeted clinical trials. This work aims to discuss and analyze how validated biomarkers are currently integrated in disease category definitions. Future studies are mandatory to unravel the diverse contributions of genetics, socioeconomic status, environmental exposures, and other sociodemographic variables to disease severity and phenotypic presentation. Furthermore, the implementation of transcriptomics, multidisciplinary approaches, and consideration of patients' perspectives, reporting innovative insights, could be pivotal for a better understanding of disease pathogenesis and the optimization of clinical assistance.

Keywords: inflammatory granulomatous diseases; interstitial lung disease; lung fibrosis; phenotyping; sarcoidosis.

Figure 1

Main serum biomarkers of pulmonary sarcoidosis: angiotensin-converting enzyme (ACE), Cancer Antigen 125 (CA125), galectins, Krebs von den Lungen-6 (KL-6), interleukin-2 (IL-2), interleukin-4 (IL-4), interleukin-6 (IL-6), interleukin-10 (IL-10), serum interleukin-2 receptor (sIL-2 receptor), tumor necrosis factor-alpha (TNF-α), interferon-gamma (IFN-γ), monokine induced by interferon-gamma (C-X-C motif chemokine 9) (MIG (CXCL9), C-X-C motif chemokine 3 (CXCL3), neuron-specific enolase (NSE), serum amyloid-A (SSA), chitotriosidase (CTO), CD163 M2 macrophage.