Biomarkers in rheumatic diseases: how can they facilitate diagnosis and assessment of disease activity?

Abstract

Serological and proteomic biomarkers can help clinicians diagnose rheumatic diseases earlier and assess disease activity more accurately. These markers have been incorporated into the recently revised classification criteria of several diseases to enable early diagnosis and timely initiation of treatment. Furthermore, they also facilitate more accurate subclassification and more focused monitoring for the detection of certain disease manifestations, such as lung and renal involvement. These biomarkers can also make the assessment of disease activity and treatment response more reliable. Simultaneously, several new serological and proteomic biomarkers have become available in the routine clinical setting--for example, a protein biomarker panel for rheumatoid arthritis and a myositis antibody panel for dermatomyositis and polymyositis. This review will focus on commercially available antibody and proteomic biomarkers in rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis (scleroderma), dermatomyositis and polymyositis, and axial spondyloarthritis (including ankylosing spondylitis). It will discuss how these markers can facilitate early diagnosis as well as more accurate subclassification and assessment of disease activity in the clinical setting. The ultimate goal of current and future biomarkers in rheumatic diseases is to enable early detection of these diseases and their clinical manifestations, and to provide effective monitoring and treatment regimens that are tailored to each patient's needs and prognosis.

Spondyloarthritis: Matrix Metalloproteinasesas Biomarkers of Pathogenesis and Response to Tumor Necrosis Factor (TNF) Inhibitors

“…Sensitive and/or specific imaging or biological markers could aid clinicians to formulate an early diagnosis of the disease [3]. Biomarkers could also be used to classify disease activity, which is presently based almost exclusively on clinical indexes such as the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), which quantifies a patient’s self-assessment of symptoms such as fatigue, pain, swelling, axial and peripheral symptoms, enthesopathy, and duration and intensity of morning stiffness, the Ankylosing Spondylitis Disease Activity Score (ASDAS), the Maastricht Ankylosing Spondylitis Enthesitis Score (MASES), the Disease Activity Score-28 (DAS-28), the Bath Ankylosing Spondylitis Functional Index (BASFI), the Health Assessment Questionnaire (HAQ) and the Bath Ankylosing Spondylitis Metrology Index (BASMI) [5].…”

Biomarkers, imaging and disease activity indices in patients with early axial spondyloarthritis: the Italian arm of the SpondyloArthritis-Caught-Early (SPACE) Study

“…MRI can, instead, detect inflammatory lesions of SIJ in patients with early-onset axSpA without radiographic evidence of sacroiliitis (5,6). Recently, several studies have focused on biomarkers that could facilitate early diagnosis and identify individuals at higher risk of developing the disease (7)(8)(9). Tumor necrosis factor α (TNFα) is a crucial cytokine that plays an essential role during the inflammatory response in SpA (10).…”

Preventing the development of SLE: identifying risk factors and proposing pathways for clinical care

“…45 Dysregulation of interferon (IFN)-alpha (i.e. the IFN signature), may play a key role in SLE-related autoimmunity, [46][47][48][49] where it has been linked to the presence of SLE-related autoantibodies but not to clinical manifestations of disease. It was hypothesized that IFNa may be specially related to the development of autoimmunity.…”

“…49,57 Additional serum and urine biomarkers predictive of renal involvement are also under investigation. 49,58,59 There are some suggestions that with the advent of predictive biomarkers and personalized medicine in SLE, 60 kidney biopsies may become a thing of the past. 61,62 The findings from these 'omics studies have led to the concept that individuals who develop CSLE have an initial preclinical stage of 'benign' autoimmunity that can progress to a more ominous stage of pathogenic autoimmunity (Figure 1).…”