AUTOINFLAMMATORY DISEASES

Polygenic Diseases

Still’s Disease Is an Autoinflammatory Disease Driven by an Excess of Proinflammatory Cytokines, Including IL-1β^1-3

Still’s disease is often thought of as a continuum of disease and includes^1,2:

• Systemic juvenile idiopathic arthritis (SJIA), which presents in patients younger than 16 years old
• Adult-onset Still’s disease (AOSD), which presents in patients 16 years and older

Individuals with Still’s disease typically may have a combination of spiking fevers, rash, and arthritis/arthralgia^2,4

• The systemic and arthritic symptoms of Still’s disease can be debilitating, result in an inability to perform daily activities, and can have an impact on overall quality of life^4-8
• Possible long-term consequences of SJIA include joint damage, mobility loss, and slowing of growth^2,5,8,9
• Patients with AOSD can be at risk of joint erosion and disability, swelling in the lymphatic system and vital organs, and renal damage^4,6,7

Rare Still’s disease includes the following:

Patterns of Still’s Disease

Still’s disease has a variable disease course that generally falls into 3 distinct patterns^4,11-14

Monocyclic

(single episode)

Polycyclic or INTERMITTENT

(repeated flares)

Persistent/CHRONIC

(constant illness)

Diagnosing SJIA

International League of Associations for Rheumatology (ILAR) classification criteria^15,16

As the diagnosis is clinical in nature, the ILAR classification criteria can be used as a guide

Exclusion Criteria for ILAR¹⁵

• Psoriasis or a history of psoriasis in the patient or first-degree relative
• Arthritis in male who is HLA-B27 positive aged >6 years
• Ankylosing spondylitis, enthesitis-related arthritis, sacroiliitis with inflammatory bowel disease, Reiter’s syndrome, or acute anterior uveitis, or a history of one of these disorders in a first-degree relative
• The presence of IgM rheumatoid factor on at least 2 occasions at least 3 months apart

Details of Clinical Manifestations

• Arthritis ranges from oligoarticular to polyarticular with the wrists, knees, and ankles as the most commonly affected joints²
• Fevers spike ≥39 °C and return to ≤37 °C between peaks¹⁵
• Rash is transient, salmon colored, macular or maculopapular, and is typically found on the trunk, neck, and proximal extremities²
• Highly elevated inflammatory markers, such as ESR and CRP, are usually present in patients with SJIA²
• Additional laboratory abnormalities in SJIA include leukocytosis, thrombocytosis, and elevated ferritin and D-dimer levels²

Diagnosing AOSD

Yamaguchi classification criteria—diagnosis requires ≥5 criteria, including ≥2 major criteria¹⁷

Details of Clinical Manifestations⁴

• Triad of symptoms that include high-spiking fevers, a characteristic rash, and arthritis/arthralgias
• Rash is evanescent, salmon-pink, maculopapular eruption, and predominantly found on the proximal limbs and trunk, with rare involvement of the face and distal limbs
• Often accompanied by fever, the rash can be mildly pruritic and confused with a drug allergy
• Fevers are generally >39 °C and are transient, lasting typically under 4 hours and are most commonly daily or twice daily in pattern, with the highest temperatures seen in the late afternoon or early evening
• Fever can spark the onset of other manifestations, including serositis, sore throat, myalgias, and arthralgias

Several common laboratory abnormalities in AOSD⁴

Glycosylated ferritin is an especially important marker—in patients with AOSD, glycosylation of ferritin is often <20%⁴

Treatment Goals for Still’s Disease

Timely diagnosis is critical for patients with Still’s disease^17,19

Treatment goals include^16,20:

• Control of active inflammation and symptoms
• Prevent disease-related morbidities/end-organ damage

Periodic Fever Syndromes (PFS) are also rare autoinflammatory diseases

LEARN about pfs