Tumor Necrosis Factor Receptor-Associated Periodic Syndrome: Genetics, Autoinflammation, and Recurrent Pericarditis

Background: Tumor necrosis factor receptor–associated periodic syndrome (TRAPS) is a rare hereditary autoinflammatory disorder caused by mutations in the tumor necrosis factor superfamily member 1A gene, which encodes tumor necrosis factor receptor 1. It typically presents with recurrent fever and other signs of inflammation. Case Summary: A 26-year-old Hispanic woman presented with recurrent fever, tachycardia, and pleuritic chest pain. She was diagnosed with recurrent pericarditis (RP) secondary to TRAPS. She showed an excellent clinical response upon switching from canakinumab to rilonacept. Discussion: RP is often labeled idiopathic, but autoinflammatory diseases such as TRAPS should be considered in such cases on the basis of the clinical presentation. Interleukin-1 inhibitors have emerged as promising treatments for RP, with radical pericardiectomy being considered as a last resort.