Adult-onset Still disease

What it is

From: Orphanet

A rare inflammatory multisystem disorder characterized clinically by four cardinal signs: fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Arthralgia · Very frequent (99-80%)

Joint pain.

Arthritis · Very frequent (99-80%)

Inflammation of a joint.

Elevated circulating C-reactive protein concentration · Very frequent (99-80%)

The concentration of C-reactive protein in the blood circulation is above the upper limit of normal.

Elevated erythrocyte sedimentation rate · Very frequent (99-80%)

An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.

Erythema · Very frequent (99-80%)

Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.

Fatigue · Very frequent (99-80%)

A subjective feeling of tiredness characterized by a lack of energy and motivation.

Fever · Very frequent (99-80%)

Body temperature elevated above the normal range.

Increased circulating ferritin concentration · Very frequent (99-80%)

Increased concentration of ferritin in the blood circulation.

Increased total leukocyte count · Very frequent (99-80%)

An abnormal increase in the number of leukocytes in the blood.

Neutrophilia · Very frequent (99-80%)

Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group.

Pruritus · Very frequent (99-80%)

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.

Skin rash · Very frequent (99-80%)

A red eruption of the skin.

Arthralgia/arthritis · Very frequent (99-80%)

Joint swelling · Very frequent (99-80%)

Other findings in the same source

From: Orphanet

Additional reported features include Abdominal pain (Frequent (79-30%)); Anemia (Frequent (79-30%)); Asthenia (Frequent (79-30%)); Elevated circulating alkaline phosphatase concentration (Frequent (79-30%)); Elevated circulating hepatic transaminase concentration (Frequent (79-30%)); Generalized lymphadenopathy (Frequent (79-30%)); Hepatomegaly (Frequent (79-30%)); Koebner Phenomenon (Frequent (79-30%)); Lymphadenopathy (Frequent (79-30%)); Maculopapular exanthema (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adult; Elderly

Inheritance in the source

From: Orphanet

Not applicable

Frequency and the population described

From: Orphanet

Annual incidence: 1-9 / 1 000 000; France; Value and class. Annual incidence: 1-9 / 1 000 000; Japan; Value and class. Point prevalence: 1-9 / 100 000; Japan; Value and class. Annual incidence: 1-9 / 1 000 000; Norway; Value and class.

Which doctor should you see?

The suggested department for discussing Adult-onset Still disease is Rheumatology, with a rheumatologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Are the findings inflammatory, structural or due to another mechanism?
• Is there evidence that other organs need assessment?
• How will function and any treatment-related risks be monitored?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Adult-onset Still disease. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.