Biomarkers in Systemic Sclerosis Associated Interstitial Lung Disease (SSc-ILD)

Abstract

Interstitial lung disease (ILD) is the leading cause of mortality in systemic sclerosis, a rare autoimmune disease characterised by fibrosis and vasculopathy. The variety of phenotypes in SSc-ILD have inspired multiple studies aimed at the identification of biomarkers which can provide disease-specific information but due to the complex pathogenesis of SSc-ILD, it has been challenging to validate such markers. We provide a comprehensive update on those most studied along with emerging biomarkers. We review the up-to-date findings with regard to the use of well-studied molecular biomarkers in SSc-ILD along with novel biomarkers offering promise as prognostic markers such as IGFBP-2 and IGFBP-7, the adipokine CTRP9, endothelial progenitor cells, and cellular markers such as CD21lo/neg B cells. Expression profiling data is being used in SSc patients to determine genetic and epigenetic clusters which shed further light on mechanisms involved in the pathogenesis of SSc-ILD and are likely to uncover novel biomarkers. With the exception of autoantibodies, there are no routinely measured biomarkers in SSc-ILD and reliable validation of the many potential biomarkers is lacking. Identifying biomarkers which can offer diagnostic and prognostic certainty may help patients to receive preventative treatment as part of a personalised medicine approach.