Improving Early Autoimmune Diagnosis

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Majority of those with biomarkers but no symptoms don’t develop rheumatic disease, study finds.
Posted On: November 25, 2024
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The presence of antinuclear antibodies (ANA) may indicate rheumatic autoimmune diseases. A blood test for ANAs can be used to help with diagnosis.

Researchers at Schroeder Arthritis Institute studied the development of systemic autoimmune rheumatic diseases (SARDs) in asymptomatic individuals with certain disease biomarkers and found that the majority do not progress to disease.

SARDs are chronic autoimmune disorders that cause inflammation and organ damage. They include conditions such as rheumatoid arthritis, scleroderma, and systemic lupus erythematosus (SLE).

The presence of certain autoantibodies—molecules that attack the body’s tissues—is a hallmark of SARDs and may appear years before clinical symptoms of the disease manifest. However, these autoantibodies, more specifically antinuclear antibodies (ANAs), can also occur in healthy individuals who never develop SARDs. Identifying which ANA-positive and asymptomatic individuals may develop SARDs is crucial for early intervention and disease prevention.

To investigate this, the research team compared ANA-positive individuals who developed SARDs to those who did not. They evaluated 207 people with ANAs with no symptoms or only mild, undefined signs of disease over two years.

The researchers aimed to determine how many participants were eventually diagnosed with a SARD and how well they met the diagnostic criteria. They found 11% developed a SARD, most commonly SLE (lupus), while 89% did not.  Arthritis was a key risk factor for progression, especially to SLE.

In addition, patients who developed lupus often had mild disease, primarily arthritis, without serious symptoms like kidney issues or psychosis.

Dr Johnson’s team also evaluated new criteria from the European Alliance of Associations for Rheumatology/American College of Rheumatology, or EULAR/ACR, in this study and found that it identified lupus more effectively than older methods.

These findings can guide both patient care and research efforts, particularly in understanding early-stage and mild forms of diseases like lupus. For researchers planning studies or trials on early-stage autoimmune diseases, these results provide the information needed to help design these studies effectively and ensure that enough participants are included to detect meaningful outcomes.

The lead author of this study is Dr. Sindhu Johnson, Clinician Scientist at Krembil Research Institute and Professor in the Temerty Faculty of Medicine, University of Toronto.

This work was supported by Schroeder Arthritis Institute and UHN Foundation.

Johnson SR, Alahmari H, Bonilla D, Ahmad Z, Bookman A, Hiraki LT, Silverman E, Touma Z, Movahedi M, Wither JE. Evaluation of Progression From Preclinical to Systemic Autoimmune Rheumatic Disease: Novel Use of the European Alliance of Associations for Rheumatology/American College of Rheumatology Systemic Lupus Erythematosus Classification Criteria as an Outcome Measure. ACR Open Rheumatol. 2024 Sep 30. doi: 10.1002/acr2.11723. Epub ahead of print.