Autoinflammatory Disease in Adults

Recurring symptoms need a broad evaluation

Repeated fevers, rash or joint symptoms do not identify a single disease. Infections, medication effects, autoimmune conditions and other illnesses can produce overlapping findings. Bring a timeline and records rather than trying to fit every symptom into a name.

Some inherited conditions are recognized late; other conditions involve acquired changes in a subset of cells. A negative genetic panel does not settle every possible explanation. Read about genetics and uncertainty.

Still’s disease

Still’s disease can begin in children or adults. The childhood form is often called systemic juvenile idiopathic arthritis (sJIA); the adult form is called adult-onset Still’s disease (AOSD). Features may include spiking fevers, rash, joint symptoms and systemic inflammation. There is no single routine test that proves it; other causes must be considered.

The 2024 EULAR/PReS recommendations address the childhood and adult forms together. They emphasize early control of inflammation, often with IL-1 or IL-6 inhibitors, and minimizing prolonged glucocorticoid exposure. Treatment is individualized.

Macrophage activation syndrome (MAS) is a serious possible complication requiring urgent medical care. Ask the team which changes should trigger immediate contact. Rapid deterioration, confusion or breathing difficulty warrants urgent assessment.

VEXAS syndrome

VEXAS is caused by an acquired change in UBA1 in blood-forming cells. It usually affects older men, although women can be affected. It is not generally a condition passed from parent to child.

Possible findings include unexplained inflammation with fever, skin disease, inflammation of cartilage, lung problems, blood clots or abnormalities in blood counts. These findings have many other causes; a symptom checklist cannot diagnose VEXAS. Diagnosis requires appropriate molecular testing in the clinical context.

Care often involves both rheumatology and hematology. Treatment must address inflammation and blood or bone-marrow problems. The best approach depends on the individual; specialist guidance and clinical trials are important as evidence develops.

Make the next visit useful

• Bring a timeline, medication list, prior test results and photographs of intermittent findings.
• Ask what diagnoses are being considered and what evidence would change the plan.
• Clarify who coordinates care across specialists.
• Request a written plan for new fever, infection concerns or worsening symptoms.

Use the appointment preparation guide and daily-life resources. Do not assume a new fever is a familiar flare, especially while taking immune-modifying treatment.