Unclassified autoinflammatory syndrome with TRAPS-like symptoms and severe oropharyngeal disease treated successfully with canakinumab.

PURPOSE: To report an unclassified autoinflammatory syndrome with TRAPS-like and Behçet-like features presenting with severe inflammatory pharyngeal wall involvement threatening the airway, successfully controlled with canakinumab. CASE DESCRIPTION: A 40-year-old woman had a 20-year history of recurrent oral and genital ulcers, uveitis, photosensitive rash, episodic neurological symptoms and relapsing arthritis with prominent sternoclavicular involvement, negative autoimmune serology and nonspecific chronic inflammatory changes on biopsy. A heterozygous TNFRSF1A variant of uncertain significance supported a TRAPS spectrum diagnosis. Conventional disease-modifying agents and several biologics achieved only partial or transient responses; anakinra was discontinued because of severe injection-site reactions. She then developed a painful, progressively enlarging inflammatory thickening of the posterior and lateral pharyngeal walls with dysphagia and impending airway compromise on MRI. High-dose glucocorticoids and background immunosuppression were insufficient. Canakinumab 300 mg every 4 weeks induced rapid symptom relief and near-complete radiological resolution within 2 months, with sustained remission on 150 mg every 4 weeks plus conventional therapy. Close collaboration between rheumatology and otorhinolaryngology in similar cases is warranted.