To bring awareness in rare Disease Day 2023, Dr. Bella Mehta talked about Still's Disease patterns and therapies

1. Adult-Onset Still’s Disease
Dr. Bella Mehta
Hospital for Special Surgery
Weill Cornell Medical College
@bella_mehta

2. Overview
• Adult Onset Still’s Disease (AOSD) is a rare autoinflammatory
syndrome
• ~1.6 cases per 1,000,000 individuals, affecting men and women equally
• Most commonly affects patients between 15-25 and 36-46 years old
• Many patients live full, normal lives with proper treatment
Mandl L, et al. Treatment of adult-onset Still's disease. Up to Date. 2021

3. Why does AOSD occur?
Genetic factors Viral infection Immune dysregulation
Epstein-Barr
Rubella
IL-1 IL-6
IL-17 IL-18
TNF - alpha
Several factors associated with AOSD

4. AOSD Disease Patterns
Monocyclic/Self-Limited
One flare/active phase
Lasts weeks to months
Usually resolves in <1 year
Systemic features (fever, rash,
serositis)
Intermittent Pattern
≥1 disease flare
Complete remission between
episodes
Articular symptoms
Chronic Pattern
Constant active disease
No remission
Articular symptoms
Destructive arthritis

5. Still’s Disease Triad
AOSD
Daily fevers
Early afternoon/evening
Evanescent rash
Salmon-pink, on trunk or
extremities, occurs with fever
Arthritis
Small joints more often than
large joints

6. AOSD Rash
Evanescent (tends to disappear quickly) rash that is most common
during a fever episode
Left image: Courant V, et al. Rare presentation of adult Still's disease in an African American male. Journal of Hospital Medicine, 2022
Center image: Gopalarathinim R, et al. Adult Onset Still's Disease: A Review on Diagnostic Workup and Treatment Options. Case Reports in Rheum, 2016;6:1-6.
Right image: Patra S, et al. Adult-onset Still's disease presenting as blotchy and flagellate pigmentation. Indian J Dermatol Venereol Leprol, 2019;85:626-628.

7. Clinical Features
Common Symptoms Uncommon Symptoms
Fever Hepatomegaly
(enlarged liver)
Rash Pleurisy
(inflammation of lung lining)
Arthritis Pericarditis
(inflammation of the heart lining)
Arthralgia
(body aches)
Abdominal pain
Myalgias
(muscle pain)
Macrophage activation syndrome (MAS)
Sore Throat
Lymphadenopathy
(swelling of lymph nodes)
Splenomegaly
(enlarged spleen)

8. Comorbidities
• Our Nationwide study examined variations
in morbidity and mortality 5 year data
• 65.6% of patients were female
• Mean age of pts who died in hospital 62.4
• Higher odds of in-hospital death in Asian
patients
• Other possible complications that may occur in
AOSD include:
• Overwhelming infection
• Liver failure
• Amyloidosis (protein buildup)
5,820 Hospitalized
AOSD Patients
• Heart failure
*Racial/Ethnic variations in morbidity and mortality in Adult Onset Still’s Disease: An analysis of national dataset, Seminars in arthritis and Rheumatism 2019

9. Goals of Therapy
Vary with severity of disease
1. Control inflammation
2. Prevent joint damage
3. Minimize risk of adverse events
4. Lessen burden of disease
NSAIDS
Corticosteroids
DMARDs

10. Diagnosis and Next Steps
Confirmation of diagnosis is critical
• Several other systemic conditions have similar symptoms to AOSD
Screen for underlying conditions and immunize if necessary
• Ex. hepatitus virus screening, testing for latent tuberculosis
Determine whether macrophage activation syndrome (MAS) is present
• Also known as a cytokine storm
Assess disease activity and severity
• Informs treatment (ex. medications)
Mandl L, et al. Treatment of adult-onset Still's disease. Up to Date. 2021

11. Dr. Bella Mehta
Hospital for Special Surgery
Weill Cornell Medical College
Thank You!
Questions?
@bella_mehta

12. Diagnosis
Efthimiou, P. New York Rheumatology Care, New York, NY. Ross University School of Medicine
1. Yamaguchi M, et al. J Rheumatol. 1992,19:424-430.
2. Fautrel B, et al. Medicine (Baltimore). 2002;81:194-200.

13. Medications
• Traditional medications
• Nonsteroidal anti-inflammatory drugs (NSAIDs)
• Glucocorticoids
• Biologics
• Canakinumab
• Anakinra
• Infliximab
• Rilonacept
• Etanercept
• Adalimumab
• Tocilizumab
• Rituximab
• Disease-modifying antirheumatic drugs (DMARDs)
• Hydroxychloroquine
• Methotrexate
• Leflunomide
• Cyclosporine
• Azathioprine
• Tacrolimus

14. Comorbidities
• AOSD is infrequently associated with morbidity and life-threatening
comorbidities
• Complications include:
• Overwhelming infection
• Liver failure
• Amyloidosis (protein buildup in organs)
• Adult respiratory distress syndrome
• Heart failure
• Macrophage activation syndrome (MAS)
• Pulmonary hypertension
Early recognition and
treatment can
significantly
decrease the risk of
complications
Efthimiou P, Mehta B. Life-threatening complications of adult-onset Still’s disease. Clin Rheumatol. 2014;33:305-314.