Can we diagnose rare Antinuclear antibody (ANA) associated autoimmune diseases earlier? A matched cohort study of ANA positive patients.

Rare diseases are individually rare but collectively common with 1 in 17 individuals affected during their lifetime. Patients with rare diseases frequently describe a long path to diagnosis. ANA-associated diseases are a group of rare diseases that affect different parts of the body, diagnosing these patients is difficult, the ANA test used to help diagnose these patients does not always give a clear answer. It may be positive in those who do not appear to have disease (at least at the time of testing), which leads to uncertainty for patient and doctor. We suspect that these ANA-positive patients may have higher rates of other problems compared to the general population, and there may be features that can help to distinguish those who will later develop active disease from those who won’t.

We aim to describe what happens to patients with an ANA positive blood test in primary care and identify features that may predict which patients will later develop disease.

We will start by reviewing what is known about the problems patients with ANA-positive test results suffer and talk to patients affected by the associated diseases and experts.

Then, using the findings of step 1, we will use a large research database of patients’ GP records to compare patients with ANA-positive test results to those without. We will then look to see if we can identify features that can help predict which of the ANA-positive patients will later develop disease. We will combine all our findings and share these in scientific papers and at conferences and with the patient community.

We hope that this study will identify features that could be used to alert doctors to those patients at greater risk of developing active disease, shortening the time to diagnosis, and ultimately improving patients’ lives.

Amount awarded: £33,799