Abstract
Connective tissue diseases (CTDs) such as systemic lupus erythematosus, systemic sclerosis, myositis, Sjögren’s syndrome, and rheumatoid arthritis are systemic diseases which are often associated with a challenge in diagnosis. Autoantibodies (AAbs) can be detected in these diseases and help clinicians in their diagnosis. Actually, pathophysiology of these diseases is associated with the presence of antinuclear antibodies. In the last decades, many new antibodies were discovered, but their implication in pathogenesis of CTDs remains unclear. Furthermore, the classification of these AAbs is nowadays misused, as their targets can be localized outside of the nuclear compartment. Interestingly, in most cases, each antibody is associated with a specific phenotype in CTDs and therefore help in better defining either the disease subtypes or diseases activity and outcome. Because of recent progresses in their detection and in the comprehension of their pathogenesis implication in CTD-associated antibodies, clinicians should pay attention to the presence of these different AAbs to improve patient’s management. In this review, we propose to focus on the different phenotypes and features associated with each autoantibody used in clinical practice in those CTDs.
Highlights
Connective tissue diseases (CTDs) are autoimmune diseases characterized by the involvement of several organs and the presence of various autoantibodies (AAbs)
Most studies recently published focused on the clinical impact of AAb in different CTD and found that some AAbs are clearly associated with a specific phenotype in one type of CTD, allowing the clinician to adapt the follow-up of his patient and to predict some complications
We propose to focus on the different phenotypes and features associated with each AAb used in clinical practice in CTD clearly defined such as systemic lupus erythematosus (SLE), Sjögren’s syndrome (SS), systemic sclerosis (SSc), myositis, and rheumatoid arthritis (RA)
Summary
Connective tissue diseases (CTDs) are autoimmune diseases characterized by the involvement of several organs and the presence of various autoantibodies (AAbs). In complement to IIF assay, which is a very sensitive technic and can be automated [18, 19], screening fluorescence enzyme or chemiluminescence immunoassays have been proposed in the last few years as detection assays These multiparametric immunoassays allow simultaneous testing for 13–17 of commonest pathogenic autoantibody specificities in systemic autoimmune diseases [i.e., SSA-52kD, SSA-60kD, SSB, U1RNP (RNP 70,A,C), CENP-B, Scl, Jo1, Fibrillarin, RNA polymerase III, ribosomal proteins, PM-Scl, PCNA, Mi2 proteins, Sm, dsDNA, and chromatin]. These screening immunoassays showed relatively good concordance with IIF (75–83%) and demonstrated similar or improved specificity and positive predictive value depending on the studies and the assays [20,21,22,23,24]. Antinuclear antibody and other AAbs can be observed in association with drugs (such as hydralazine and procainamide) or in non-autoimmune diseases associated with a process of tolerance breakdown such as infectious or lymphoproliferative diseases
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