Adult-onset still's disease with atypical presentation: A case report

Abstract

Adult-Onset Still's Disease (AOSD) is a rare systemic inflammatory disorder with diagnostic challenges due to its non-specific symptoms. This case presents a rarely documented manifestation of sensorineural hearing loss, while demonstrating the utility of novel biomarker interleukin-18 (IL-18) for diagnosis and successful management with modern biologic therapy. The patient initially presented with persistent sore throat, generalized weakness, diffuse synovitis, and an atypical urticarial rash. Notably, he developed left-sided hearing loss. Laboratory findings showed elevated inflammatory markers, including white blood cell count, liver enzymes, creatine kinase, C-reactive protein, erythrocyte sedimentation rate, and ferritin. Elevated interleukin-18 (IL-18) levels played a crucial role in confirming the diagnosis. After a six-year diagnostic journey, treatment progressed from high-dose steroids to biologic therapies. While the patient showed intolerance to Anakinra, he achieved remission with Canakinumab. This case underscores the importance of recognizing uncommon AOSD manifestations such as hearing loss, and demonstrates how novel biomarkers and targeted biologic therapies can improve diagnosis and management of this complex disorder. The case also suggests potential environmental triggers in AOSD, as symptom exacerbation occurred with alcohol and marijuana use.