Adult-onset Still disease
Adult-onset Still disease is a rare systemic autoinflammatory disorder marked by quotidian spiking fevers, an evanescent salmon-colored rash, arthritis, sore throat, and a markedly elevated ferritin. It is a diagnosis of exclusion confirmed by the Yamaguchi criteria, and treatment begins with NSAIDs, escalates to glucocorticoids, then to interleukin-1 blockade (anakinra or canakinumab) or interleukin-6 blockade (tocilizumab) for refractory disease.
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What this article covers
- Overview
Definition: adult-onset Still disease (AOSD) is a rare systemic autoinflammatory disorder characterized by quotidian or double quotidian spiking fevers, an evanescent salmon-colored rash, arthritis…
- Epidemiology
Rarity: prevalence is estimated at 1 to 10 cases per million.
- Risk factors
Age window: most cases begin between ages 16 and 35, though onset outside this window occurs.
- Pathophysiology
Cytokine-driven autoinflammation: overexpression of interleukin-1 beta and other proinflammatory cytokines drives AOSD, a polygenic autoinflammatory syndrome rather than a monogenic inflammasome…
- Clinical features
Fever: quotidian or double quotidian spiking fever to at least 39.0°C, present in 96 percent of patients, that returns toward normal between spikes.
- Differential diagnosis
Bacterial sepsis or occult infection: shares fever, leukocytosis, and elevated inflammatory markers, but cultures are negative and the fever persists despite empiric antibiotics, unlike a true infection (sepsis).
- Diagnosis
Diagnosis of exclusion confirmed by the Yamaguchi classification criteria: requires at least five criteria in total, including at least two of the four major criteria, once alternative diagnoses have been reasonably excluded.
- Management
First-line, mild disease: start a nonsteroidal anti-inflammatory drug (NSAID) for fever and arthralgia while completing the exclusion workup: Naproxen 250 to 500 mg PO twice daily, increased to 1500…
- Complications
Macrophage activation syndrome: the most feared complication, a life-threatening hyperinflammatory state marked by falling cell counts, a rapidly rising ferritin, and transaminase elevation…
- Prognosis
Course determines outcome: a single self-limited episode carries the best prognosis, while the more common chronic and progressive course requires sustained immunosuppression, and chronic destructive…
- Prevention
No primary prevention exists: the cause of AOSD is unknown, so prevention focuses on monitoring therapy and catching flares and complications early.
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