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The test for antinuclear antibodies (ANA) is frequently obtained to identify patients at higher risk for a rheumatic condition prior to subspecialty referral. However, a positive ANA occurs in a variety of clinical settings and does not automatically indicate underlying pathology. Therefore, careful consideration is needed to determine if the results will alter diagnostic, treatment, or medical decision making before the ANA test is sent.
Systemic lupus erythematosus (SLE) is the prototypic autoimmune disease related to the presence of ANAs. The clinical manifestations of SLE are diverse, as this disease affects every organ in various combinations and severities unique to each individual lupus patient. Therefore, presentations can range from subtle skin and laboratory abnormalities to life-threatening end-organ damage. Other rheumatic conditions associated with a positive ANA include juvenile idiopathic arthritis, juvenile dermatomyositis, mixed connective tissue disease, localised scleroderma, systemic sclerosis, Sjögren syndrome and drug-induced lupus.1
This article presents the history and current use of the ANA test in paediatric practice related to rheumatic diseases, with an emphasis on three specific clinical scenarios where this test may be useful. We also review the relevant data pertaining to why the ANA test is not a good test to screen for rheumatic conditions. As there is no test capable of discriminating between a patient with and without a rheumatic disease, we present some features of the most common rheumatic diseases to help general paediatricians recognise specific patterns of symptoms that warrant further evaluation and/or referral to a paediatric rheumatologist (box 1).
Specific signs and symptoms of common paediatric rheumatic diseases20,22
Systemic lupus erythematosus (SLE) (based on the 1997 American College of Rheumatology Classification of SLE)
Oral ulcers (often painless and on the hard palate).
Malar rash (spares nasolabial folds).
Photosensitivity (unusual persistent skin reaction to sunlight). …
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