Autoinflammatory diseases are often considered rare — but, in clinical practice, they may be far more common than we think. In this episode of Around the Rheum, hosts Dr. Daniel Ennis and Dr. Janet Pope speak with Dr. Jason An, a Toronto rheumatologist with expertise in autoinflammatory disorders.

Together, they explore how these conditions differ from classic autoimmune disease, why adult rheumatologists should be thinking about them more often, and how to approach diagnosis when the presentation doesn’t fit neatly into familiar categories.

Dr. An also shares practical strategies for recognizing autoinflammatory patterns, interpreting genetic testing, and using targeted therapies both diagnostically and therapeutically.

In this episode we discuss:

• The evolving definition of autoinflammatory disease and how it differs from autoimmune disease
• Why these disorders are not just pediatric diseases and may present in adulthood
• A practical cytokine-based framework for classifying autoinflammatory diseases
• The four major inflammatory “buckets”:
• IL-1–mediated diseases
• IL-18-mediated diseases
• TNF / NF-κB pathway disorders
• Interferonopathies
• Clinical pattern recognition in patients with recurrent fevers and systemic inflammation
• The role and limitations of genetic testing in autoinflammatory disease
• Why variants of uncertain significance (VUS) may still be clinically meaningful in adults
• Using targeted therapies as diagnostic tools (colchicine, IL-1 blockade, JAK inhibitors)
• When rheumatologists should consider referral to an autoinflammatory disease specialist

Recommended reading:

Dr. An’s review on autoinflammatory diseases in The Journal of Rheumatology:

https://www.jrheum.org/content/51/9/848

Dr. Jason An, MD, MSc is an adult rheumatologist specializing in the diagnosis and treatment of autoinflammatory diseases who works in community practice in the Greater Toronto Area (GTA)

Around The Rheum is produced by the CRA Communications Committee. A special thank you to the podcast team, Dr. Dax G. Rumsey (CRA Communications Committee Chair), Dr. Daniel Ennis (Host), Dr. Janet Pope (Host) David McGuffin (exploreproductions.ca), and Erin Stewart (CRA) for leading production.

Our theme music was composed by Aaron Fontwell.

For more on the work of the Canadian Rheumatology Association, visit rheum.ca