Current status of systemic sclerosis biomarkers: Applications for diagnosis, management and drug development

Flavia V. Castelino*, John Varga

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

31 Scopus citations

Abstract

Systemic sclerosis (SSc) is a clinically heterogeneous orphan disease of unknown etiology and no effective therapy. It is characterized by protean manifestations, an unpredictable disease course and variable outcomes. Clinical manifestations reflect underlying autoimmunity, small vessel vasculopathy and progressive multi-organ fibrosis. Predicting disease progression, pattern and severity of complications and response to therapy in SSc remain major challenges both for the management of patients and for the development of effective disease-modifying therapies. This review summarizes contemporary understanding of novel and emerging biomarkers for SSc. We focus on the development of new classification criteria, the utility of SSc-specific autoantibodies as diagnostic and prognostic markers, and on biomarkers for skin and lung involvement. Finally, we review genome-wide expression analysis as a tool to predict therapeutic responses. We anticipate that the development, validation and application of these biomarkers, singly or more likely in combination, will have a transformative impact in SSc, informing early diagnosis, classification and management, as well as the design, execution and interpretation of clinical trials of novel therapeutic agents.

Original languageEnglish (US)
Pages (from-to)1077-1090
Number of pages14
JournalExpert Review of Clinical Immunology
Volume9
Issue number11
DOIs
StatePublished - Nov 14 2013

Keywords

  • autoantibodies
  • biomarker
  • classification criteria
  • gene expression
  • scleroderma

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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