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Adult-onset Still's disease (AOSD) is a form of Still's disease, a rare systemic autoinflammatory
disease A disease is a particular abnormal condition that adversely affects the structure or function (biology), function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical condi ...
characterized by the classic triad of
fever Fever or pyrexia in humans is a symptom of an anti-infection defense mechanism that appears with Human body temperature, body temperature exceeding the normal range caused by an increase in the body's temperature Human body temperature#Fever, s ...
s, joint pain, and a distinctive salmon-colored bumpy rash. The disease is considered a diagnosis of exclusion. Levels of the iron-binding protein
ferritin Ferritin is a universal intracellular and extracellular protein that stores iron and releases it in a controlled fashion. The protein is produced by almost all living organisms, including archaea, bacteria, algae, higher plants, and animals. ...
may be extremely elevated with this disorder. AOSD may present in a similar manner to other inflammatory diseases and to autoimmune diseases, which must be ruled out before making the diagnosis. Prognosis is usually favorable but manifestations of the disease affecting the lungs, heart, or kidneys may occasionally cause severe life-threatening complications. It is treated first with
corticosteroid Corticosteroids are a class of steroid hormones that are produced in the adrenal cortex of vertebrates, as well as the synthetic analogues of these hormones. Two main classes of corticosteroids, glucocorticoids and mineralocorticoids, are invo ...
s such as
prednisone Prednisone is a glucocorticoid medication mostly used to immunosuppressive drug, suppress the immune system and decrease inflammation in conditions such as asthma, COPD, and rheumatologic diseases. It is also used to treat high blood calcium ...
. Medications that block the action of interleukin-1, such as anakinra, can be effective treatments when standard steroid treatments are insufficient. Obvious similarities exist with juvenile rheumatoid arthritis (also known as "juvenile-onset Still's disease"), and there is some evidence that the two conditions are closely related.


Signs and symptoms

The disease typically presents with joint pain, high fevers, a salmon-pink macular or maculopapular rash, enlargement of the liver and spleen, swollen lymph nodes, and a neutrophil-predominant increased white blood cell count in the blood. Tests for rheumatoid factor and anti-nuclear antibodies are usually negative and serum ferritin is markedly elevated. Patients experiencing a flare-up from adult-onset Still's disease usually report extreme fatigue, swelling of the lymph nodes and, less commonly, fluid accumulation in the lungs and heart. In rare cases, AOSD can cause life-threatening complications, including hemophagocytic lymphohistiocytosis, intervertebral disc calcification (IVDC), fulminant hepatitis, or disabling conditions such as aseptic meningitis and
sensorineural hearing loss Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear, sensory organ (cochlea and associated structures), or the vestibulocochlear nerve (Cranial nerves, cranial nerve VIII). SNHL accounts for a ...
. Although more frequently described as associated with rheumatoid arthritis, Still's disease can lead to hematological complications such as thrombotic microangiopathy.


Pathophysiology

The cause of adult-onset Still's disease is unknown and it is not heritable, but it presumably involves interleukin-1 (IL-1), since medications that block the action of IL-1β are effective treatments. Interleukin-18 is expressed at high levels.


Diagnosis

The diagnosis is clinical, not based upon
serology Serology is the scientific study of Serum (blood), serum and other body fluids. In practice, the term usually refers to the medical diagnosis, diagnostic identification of Antibody, antibodies in the serum. Such antibodies are typically formed in r ...
. At least seven sets of diagnostic criteria have been devised; however, the Yamaguchi criteria have the highest sensitivity. Diagnosis requires at least five features, with at least two of these being major diagnostic criteria.


Classification

People with AOSD generally experience one of two patterns in the disease: * a debilitating pattern of fevers, joint pain, and other systemic symptoms, or * a somewhat less aggressive pattern, in which the main symptom is chronic joint pain and arthritis. One set of 21 adult-onset Still's disease patients were divided into four types, according to clinical course patterns. These included monocyclic systemic disease, polycyclic systemic disease, chronic articular monocyclic systemic disease, and chronic articular polycyclic systemic disease. People with chronic articular and polyarticular disease were at higher risk to develop disabling arthritis.


Treatment

Adult-onset Still's disease is treated with anti-inflammatory medications.
Steroids A steroid is an organic compound with four fused rings (designated A, B, C, and D) arranged in a specific molecular configuration. Steroids have two principal biological functions: as important components of cell membranes that alter mem ...
such as
prednisone Prednisone is a glucocorticoid medication mostly used to immunosuppressive drug, suppress the immune system and decrease inflammation in conditions such as asthma, COPD, and rheumatologic diseases. It is also used to treat high blood calcium ...
are used to treat severe symptoms of Still's. Other commonly used medications include hydroxychloroquine, penicillamine, azathioprine, methotrexate, etanercept, anakinra, tocilizumab, cyclophosphamide, adalimumab,
rituximab Rituximab, sold under the brand name Rituxan among others, is a monoclonal antibody medication used to treat certain autoimmune diseases and types of cancer. It is used for non-Hodgkin lymphoma, chronic lymphocytic leukemia (in children and ad ...
, and
infliximab Infliximab, a chimeric monoclonal antibody, sold under the brand name Remicade among others, is a medication used to treat a number of autoimmune diseases. This includes Crohn's disease, ulcerative colitis, rheumatoid arthritis, ankylosing ...
. Newer medications target interleukin-1 (IL-1), particularly IL-1β. A randomized, multicenter trial reported better outcomes in a group of 12 patients treated with anakinra than in a group of 10 patients taking other disease-modifying antirheumatic drugs. In June 2020 FDA approved Ilaris (canakinumab) for the treatment of AOSD, this is the first FDA approved treatment for AOSD. Canakinumab is another anti-IL1 drug which selectively binds IL-1β and rilonacept which blocks both IL-1A and IL-1β. The monoclonal anti-IL6 antibody tocilizumab is another treatment option as effective as anakinra. The condition "juvenile-onset Still's disease" is now usually grouped under juvenile rheumatoid arthritis. However, there are obvious similarities between the two conditions, and there is some evidence that they may be closely related.


Epidemiology

Adult-onset Still's disease is rare and has been described all over the world. The number of new cases per year is estimated to be 1.6 per 1,000,000 population. The number of people currently affected is estimated at 1.5 cases per 100,000–1,000,000 population. Onset is most common in two age ranges, between ages 16–25 and between ages of 36–46 years.


History

Still's disease is named after English
physician A physician, medical practitioner (British English), medical doctor, or simply doctor is a health professional who practices medicine, which is concerned with promoting, maintaining or restoring health through the Medical education, study, Med ...
Sir George Frederic Still (1861–1941). The adult-onset version was characterized by E. G. Bywaters in 1971.


Research directions

Researchers are investigating whether levels of a protein named calprotectin could be used to improve diagnosis and monitoring.


See also

*
Juvenile idiopathic arthritis Juvenile idiopathic arthritis (JIA), formerly known as juvenile rheumatoid arthritis (JRA), is the most common chronic rheumatic disease of childhood, affecting approximately 3.8 to 400 out of 100,000 children. ''Juvenile'', in this context, ref ...
* The Big Sick


References


External links

* {{Diseases of the musculoskeletal system and connective tissue Arthritis Rare diseases Medical triads Diseases named after discoverers