Rare Presentation of Misdiagnosed AOSD in the Absence of Cardinal Symptoms on Presentation

Jacob L. Boice*, Huzaifah Qureshi* and Jamie Latos

Department of Internal Medicine, West Virginia University Ruby Memorial Hospital, United States

^*Correspondance to: Jacob L. Boice 

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Abstract:

Background: Adult-onset Still’s disease (AOSD) is a rare systemic inflammatory disorder characterized by quotidian fevers, evanescent rash, arthritis, and elevated inflammatory markers. Its diagnosis can be challenging due to nonspecific symptoms and overlap with other systemic conditions. Case presentation: We report the case of a young male who presented with malaise, peripheral edema, chest pain, fevers, and a productive cough, but without the cardinal symptoms of rash or early joint involvement typically associated with AOSD. Initial evaluations suggested infectious and autoimmune etiologies, leading to treatment with multiple antibiotics, colchicine, and doxycycline. The patient’s condition was further complicated by pericardial effusion, persistent systemic inflammation, and delayed onset of arthritis during hospitalization. Extensive laboratory and imaging evaluations excluded malignancy and infectious causes. AOSD was ultimately diagnosed based on clinical features and elevated inflammatory markers. The patient improved with high-dose glucocorticoids and was later transitioned to steroid-sparing therapy with canakinumab. Discussion: This case underscores the diagnostic challenges of AOSD when cardinal features are absent at presentation. The presence of atypical findings such as peripheral edema, productive cough, and diarrhea, alongside infectious serologies, initially confounded diagnosis. Recognition of evolving clinical features and multidisciplinary collaboration were critical in establishing the diagnosis and initiating effective treatment. Conclusion: Clinicians should maintain a high index of suspicion for AOSD even in the absence of classic presenting symptoms. Early recognition and appropriate immunosuppressive therapy are essential to prevent complications and improve outcomes.

Keywords:

Adult-onset Still’s disease, misdiagnosis, atypical presentation, pericarditis, case report

Cite the Article:

Boice JL, Qureshi H, Latos J. Rare Presentation of Misdiagnosed AOSD in the Absence of Cardinal Symptoms on Presentation. Ann Clin Case Rep. 2025; 10: 2769..