Rare Pediatrics News

Disease Profile

Adult-onset Still’s disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Elderly

ageofonset-elderly.svg

ICD-10

M06.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

notapplicable.svg

Other names (AKA)

Adult Still's disease; Still's disease adult onset

Categories

Kidney and Urinary Diseases; Musculoskeletal Diseases

Summary

Adult-onset Still's disease (AOSD) is an inflammatory condition that affects multiple organs. The most common symptoms are high fevers, skin rash, arthritis, and high levels of ferritin, a protein that stores iron in the blood. Other symptoms include an enlarged spleen and lymph nodes, joint pain, and sore throat. In some cases, symptoms may be severe and lead to organ and joint damage. The cause of AOSD is unknown, but genetic and other unknown factors may be involved. Diagnosis is based on the symptoms and the results of several blood tests. Other more common conditions need to be ruled out before AOSD can be diagnosed. Treatment involves multiple different types of medications and is focused on controlling the symptoms.[1][2][3][4]

Still's disease which occurs in children (under the age of 16) is known as systemic onset juvenile rheumatoid arthritis (JRA).

Symptoms

The following list includes the most common signs and symptoms in people with adult-onset Still's disease (AOSD). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

The first symptoms of AOSD usually occur in early adulthood and include high fevers, arthritis, and a skin rash. Symptoms may occur continually or over short periods of time. Arthritis can lead to permanent joint damage over time. Some people with AOSD have serious complications that include severe allergic reactions, abnormal blood clotting (disseminated intravascular coagulation), and organ failure.[1][2][3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Arthralgia
Joint pain
0002829
Arthritis
Joint inflammation
0001369
Elevated C-reactive protein level
0011227
Elevated erythrocyte sedimentation rate
High ESR
0003565
Erythema
0010783
Fatigue
Tired
Tiredness

[ more ]

0012378
Fever
0001945
Hepatomegaly
Enlarged liver
0002240
Joint swelling
0001386
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number

[ more ]

0001974
Neutrophilia
Increased blood neutrophil counts
0011897
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Skin rash
0000988
Splenomegaly
Increased spleen size
0001744
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Generalized lymphadenopathy
Generalized swelling of lymph nodes
Swollen lymph nodes affecting all regions of the body

[ more ]

0008940
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Pericarditis
Swelling or irritation of membrane around heart
0001701
Pleuritis
Inflammation of tissues lining lungs and chest
0002102
5%-29% of people have these symptoms
Abnormal circulating lipid concentration
0003119
Bone marrow hypocellularity
Bone marrow failure
0005528
Cartilage destruction
0100773
Elevated hepatic transaminase
High liver enzymes
0002910
Hepatitis
Liver inflammation
0012115
Meningitis
0001287
Myocarditis
Inflammation of heart muscle
0012819
Recurrent pharyngitis
Recurrent sore throat
0100776

Cause

The cause of adult-onset Still’s disease is unknown. Both genetic and environmental factors, such as bacterial and viral infections, may be involved.[2][3]

Diagnosis

Adult-onset Still's disease is diagnosed based on the results of a clinical exam and specific blood tests. Additional testing is often done to look for and exclude more common conditions that cause similar symptoms.[1][4]

Treatment

Treatment for adult-onset Still's disease is focused on managing the symptoms and keeping them from getting worse. Several different types of medications are used including anti-inflammatory medications, steroids, and medications that help control the immune system.[4][5][6] 

Specialists that may be involved in the care of someone with adult-onset Still's disease include: 

  • Orthopedist
  • Rheumatologist
  • Dermatologist

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Canakinumab(Brand name: Ilaris) Manufactured by Novartis
    FDA-approved indication: ILARIS is indicated for the treatment of active Still’s disease, including Adult-Onset Still’s Disease (AOSD) and Systemic Juvenile Idiopathic Arthritis (SJIA) in patients aged 2 years and older.
    National Library of Medicine Drug Information Portal

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
    • The Arthritis Foundation has an information page on adult onset stills disease. Click on the link above to view the information page.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        Orphanet
        Orphanet

        References

        1. Giacomelli R, Ruscitti P, Shoenfeld Y. A comprehensive review on adult onset Still's disease. J Autoimmun. 2018; 93:24-36. https://pubmed.ncbi.nlm.nih.gov/30077425.
        2. Ruscitti P, Giacomelli R. Pathogenesis of adult onset still's disease: current understanding and new insights. Expert Rev Clin Immunol. 2018; 14(11):965-976. https://pubmed.ncbi.nlm.nih.gov/30295095.
        3. Wang MY, Jia JC, Yang CD, Hu QY. Pathogenesis, disease course, and prognosis of adult-onset Still's disease: an update and review. Chin Med J (Engl). 2019; 132(23):2856-2864. https://pubmed.ncbi.nlm.nih.gov/31856058.
        4. Mimura T, Kondo Y, Ohta A, et al. Evidence-based clinical practice guideline for adult Still's disease. Mod Rheumatol. 2018; 28(5):736-757. https://pubmed.ncbi.nlm.nih.gov/2965190.
        5. Yoo DH. Biologics for the treatment of adult-onset still's disease. Expert Opin Biol Ther. 2019; 19(11):1173-1190. https://pubmed.ncbi.nlm.nih.gov/31379214.
        6. Park EH, Lee EY, Shin K, Kim HA. Tocilizumab-induced anaphylaxis in patients with adult-onset Still's disease and systemic juvenile idiopathic arthritis: a case-based review. Rheumatol Int. 2020; 40(5):791-798. https://pubmed.ncbi.nlm.nih.gov/31598752.

        Rare Pediatrics News