Early diagnosis of autoimmune disease is a goal of ongoing research in multiple areas. Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease that causes significant morbidity and premature mortality. Early diagnosis of lupus prior to the onset of major disease manifestations is currently not reliable, due in large part to the limitations of available tests. Emerging knowledge in human genetics and immunology, assisted by computer-aided bioinformatics analyses, has the potential to contribute significantly to the development of more accurate diagnostic approaches. The identification of patients in the early stages of disease, or even prior to the onset of any clinically detectable abnormalities, would permit the institution of treatments that have the potential to reverse or prevent organ damage. Potentially useful approaches to detect SLE risk include proteomic detection of autoantibodles, patterns of gene expression by cells in the peripheral blood and genetic polymorphisms detected by single nucleotide changes. While these are being investigated as individual approaches, the greatest strength may lie in the eventual combination of these nonoverlapping measures to develop a profile that can translate to a quantification of lupus risk.
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