Materiały źródłowe

• #1 Diagnosis and management of adult onset Still’s disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1798146/

  Adult onset Still’s disease (AOSD) is a rare systemic inflammatory disorder of unknown aetiology that is responsible for a significant proportion of cases of fever of unknown origin and can also have serious musculoskeletal sequelae. […] To assess and synthesise the evidence for optimal diagnosis and management of AOSD. […] Diagnosis is clinical and requires exclusion of infectious, neoplastic, and other autoimmune diseases. Laboratory tests are nonspecific and reflect heightened immunological activity. […] The emergence of validated diagnostic criteria, discovery of better serological markers, and the application of new biological agents may all provide the clinician with significant tools for the diagnosis and management of this complex systemic disorder. […] The diagnosis of AOSD remains a clinical one. Unlike other systemic rheumatic diseases, it is not associated with rheumatoid factor (RF) or antinuclear antibody (ANA) positivity, and this fact has been used in various sets of criteria used to define the disease.

• #1 Diagnosis and management of adult onset Still’s disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1798146/

  Several sets of classification criteria have been published for AOSD. […] The clinical presentation of AOSD is heterogeneous, and the spectrum of differential diagnoses is wide, including infectious, neoplastic, and autoimmune disorders, which should be ruled out before the diagnosis of AOSD can be made. […] The clinical course can fall into three distinct patterns, with significant prognostic implications, each affecting about one third of patients with AOSD. […] Treatment in AOSD has been exclusively empirical, with data on treatment efficacy extrapolated from case reports and small scale retrospective studies. […] Most patients with AOSD will need treatment with corticosteroids at some point in their disease course. […] The use of intravenous gammaglobulin (IVIG) in AOSD has also been described in the treatment of flares and disease refractory to NSAIDs, with responses seen at doses ranging from 0.4 to 2g/kg/day for 25days and remission lasting for 253months. […] Most recently, IL1 blockade has emerged as a possible new therapeutic option.

• #2 Adult-Onset Still’s Disease: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/adult-onset-stills-disease-aosd

  Adult-onset Stills disease is a rare type of inflammatory arthritis that develops unexpectedly in early adulthood. […] The symptoms of adult-onset Stills disease resemble many other conditions. And as its rare, a healthcare provider might not suspect it right away. It can be a process to get to the right diagnosis. […] After reviewing your symptoms and health history, your provider will order blood tests and imaging tests to learn more about your condition. Imaging tests, like X-rays or an ultrasound, can show inflammation and swelling in your joints. Blood tests can help rule out other conditions. If your blood test shows high levels of ferritin along with a high white blood cell count, these signs point to AOSD. […] Healthcare providers treat adult-onset Stills disease with various types of anti-inflammatory drugs. Different medications work better for different people. It can take some trial and error to find which ones work best to manage your symptoms.

• #2 Adult-Onset Still’s Disease: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/adult-onset-stills-disease-aosd

  The symptoms of adult-onset Stills disease resemble many other conditions. And as its rare, a healthcare provider might not suspect it right away. It can be a process to get to the right diagnosis. […] Medications cant cure AOSD, but they can help suppress your symptoms. For some people, symptoms will eventually go away and not come back. This is called remission. If you go into remission, you can discontinue your medications. For some people, AOSD never really goes away. You may need to take medications indefinitely to keep the inflammation under control.

• #3 ADULT ONSET STILL’S DISEASE | Comprehensive Rheumatology

  https://comprehensiverheumatology.com/index.html@p=1348.html

  Adult-onset Stills disease (AOSD) is a challenging diagnosis due to its rarity and nonspecific symptoms. […] There is no single definitive test that can diagnose AOSD, but a combination of factors help us reach an accurate diagnosis. Diagnosis also requires that autoimmune diseases like rheumatoid arthritis, systemic lupus erythematosus, and infections are ruled out. […] ACR (American College of Rheumatology) criteria: Requires meeting at least 5 of the following 7 criteria: Fever lasting at least 2 weeks, Arthralgia or arthritis lasting at least 2 weeks, Rash during fever spikes, Sore throat with no pharyngeal exudate, Lymphadenopathy (enlarged lymph nodes) ( 1.5 cm), Elevated white blood cell count ( 10,000/L), Elevated ferritin ( 400 g/L). […] Early diagnosis and treatment are crucial to prevent joint damage and improve long-term outcomes.

• #4 Adult-onset Still disease – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/3000317

  Adult-onset Still disease (AOSD) is a rare multisystem autoinflammatory disorder that typically affects young adults. […] The diagnosis is challenging as there is no definitive test and the clinical features overlap with those of many other conditions. […] It is vital to order a wide range of tests to rule out infection, malignancy, and other rheumatic disorders that can mimic AOSD. […] If AOSD is then suspected, the key investigations are serum ferritin (hyperferritinemia is a highly sensitive but poorly specific marker) and, if available, glycosylated ferritin (which is more specific). […] It is a clinical diagnosis based on the presence of typical symptoms, signs, and investigation results after exclusion of other rheumatologic conditions, infections, and malignancy. […] Some patients present with life-threatening complications, the most common of which is macrophage activation syndrome (MAS).

• #4 Adult-onset Still disease – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/3000317

  Key diagnostic factors include fever 102.2F (39.0C), arthralgia, arthritis, and salmon-colored maculopapular skin rash. […] The first tests to order include CBC, renal panel, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), liver function tests, procalcitonin, blood cultures, chest x-ray, renal and liver ultrasound scan, echocardiogram, and ECG. […] Tests to consider include cardiac enzymes, cardiac MRI, serum ferritin, glycosylated ferritin, and further tests as part of full septic and autoimmune/rheumatologic screens.

• #5 Still Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538345/

  In almost all patients, inflammatory markers such as erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are elevated. […] The lab findings discussed below are characteristic of AOSD but are not pathognomonic. Therefore, their presence, in conjunction with clinical manifestations, assists the clinician in establishing the diagnosis after ruling out alternate causes. […] The synovial fluid typically exhibits signs of inflammation, with a mean leukocyte range of 100 to 48,000 cells per microliter. […] The accurate diagnosis of AOSD relies on a thorough evaluation of clinical, laboratory, and imaging findings to differentiate it from its diverse array of potential mimickers. […] AOSD is, in part, a diagnosis of exclusion and frequently presents a diagnostic challenge.

• #5 Still Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538345/

  Adult-onset Still’s disease (AOSD) is an uncommon systemic inflammatory disorder characterized by inflammatory polyarthritis, daily fever, and a transient salmon-pink maculopapular rash. A distinguishing feature is a frequently elevated serum ferritin level exceeding 1000 ng/ml. […] Clinicians participating in an AOSD continuing education activity can expect to gain a deep understanding of AOSD. This includes insights into its clinical presentation, diagnostic findings, and treatment options. […] Identify the key clinical features of adult-onset Still disease during patient assessments, including inflammatory polyarthritis, daily fever, and transient salmon-pink maculopapular rash. […] Ferritin levels typically exceed five times the upper limits of normal in patients with AOSD. An elevated ferritin level indicates the presence of the disease with an 80% sensitivity and 46% specificity.

• #6 Adult Still’s disease Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/adult-stills-disease

  Adult Still disease (ASD) is a rare illness that causes high fevers, rash, and joint pain. It may lead to long-term (chronic) arthritis. […] AOSD can only be diagnosed after many other diseases (such as infections and cancer) are ruled out. You may need many medical tests before a final diagnosis is made. […] The following blood tests can be helpful in diagnosing adult Still disease: Complete blood count (CBC), may show a high number of white blood cells (granulocytes) and reduced number of red blood cells. C-reactive protein (CRP), a measure of inflammation, will be higher than normal. ESR (sedimentation rate), a measure of inflammation, will be higher than normal. Ferritin level will be very high. Fibrinogen level will be high. Liver function tests will show high levels of AST and ALT. Rheumatoid factor and ANA test will be negative. Blood cultures and viral studies will be negative. […] Other tests may be needed to check for inflammation of the joints, chest, liver, and spleen: Abdominal ultrasound, CT scan of the abdomen, X-rays of the joints, chest, or stomach area (abdomen).

• #7 Adult-Onset Still’s Disease (AOSD)—On the Basis of Own Cases

  https://www.mdpi.com/2227-9059/12/9/2067

  Adult-onset Still’s disease (AOSD) is a rare chronic autoinflammatory condition characterized by a spiking fever, arthritis, a rash, hepatosplenomegaly, lymphadenopathy, leucocytosis, and hyperferritinemia. […] The diagnosis of Still’s disease requires a broad differential diagnosis, including the following: Severe viral infections (rubella, hepatitis, parvoviruses, coxsackie viruses, Epstein–Barr viruses [EBVs], cytomegaloviruses [CMVs], human immunodeficiency virus [HIV], severe acute respiratory syndrome coronavirus-2 [SARS-CoV-2], pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 [PIMS-TS]), or bacterial infections (bacterial endocarditis, meningococcal infection, brucellosis, yersiniosis, tuberculosis, Lyme disease, syphilis, as well as sepsis. […] The Hscore is a useful tool for identifying patients with MAS/HLH.

• #8 Adult-Onset Still’s Disease: Clinical Aspects and Therapeutic Approach

  https://www.mdpi.com/2077-0383/10/4/733

  Adult-onset Still’s disease (AoSD) is a rare systemic autoinflammatory disease characterized by arthritis, spiking fever, skin rash and elevated ferritin levels. […] Diagnosis presupposes an extensive diagnostic workup to rule out infections and malignancies. […] In this review, we discuss current research conducted on the pathogenesis, diagnosis, classification, biomarkers and complications of AoSD, as well as the treatment strategy at each stage of the disease course. […] The goal of our paper is to summarize the current (2020) state of knowledge on the pathogenesis, diagnosis, classification, biomarkers and complications of AoSD, as well as the treatment strategy at each stage of the disease course. […] The process of eliminating similar medical conditions is most likely to take a considerable amount of time.

• #8 Adult-Onset Still’s Disease: Clinical Aspects and Therapeutic Approach

  https://www.mdpi.com/2077-0383/10/4/733

  The sensitivity was 87.0%, the specificity was 97.8%, and the positive and negative predictive values were 88.7% and 97.5%, respectively. […] In the same study, the Yamaguchi criteria (without exclusion restrictions) performed better and showed a sensitivity of 96.3% and a specificity 98.9%, with positive and negative predictive values of 94.5% and 99.3%, respectively.

• #8 Adult-Onset Still’s Disease: Clinical Aspects and Therapeutic Approach

  https://www.mdpi.com/2077-0383/10/4/733

  There are no pathognomonic laboratory findings in AoSD. […] Diagnostic workup should also include liver function tests, as nearly 50% of the patients show elevated transaminases, mostly due to non-steroidal anti-inflammatory drugs (NSAIDs) or antibiotics and rarely due to fulminant hepatitis. […] During the diagnostic process, most physicians use the Yamaguchi and Fautrel classification criteria for AoSD in actual practice, although they are primarily designed to select patients for clinical trials. […] One major limitation of the Yamaguchi criteria set is its exclusion criteria. […] In contrast, Fautrel’s criteria provide a core set without exclusion criteria and refer to the usability of glycosylated ferritin as a diagnostic marker. […] To validate the performance of the Fautrel criteria in 2018 in a different cohort than the original in 2002, a French working group included 54 patients with AoSD and 278 controls.

• #9 Orphanet: Adult-onset Still disease

  https://www.orpha.net/en/disease/detail/829

  AOSD is a diagnosis of exclusion. […] The non-specific clinical features of AOSD make diagnosis difficult. […] No serological marker is currently available. […] Two sets of classification criteria, Yamaguchi and Fautrel, exist. […] Major diagnostic criteria include arthralgia for more than 2 weeks, intermittent high fever for more than 1 week, characteristic rash, and white blood cell count above 10,000. […] Minor criteria include sore throat, lymphadenopathy and/or splenomegaly, abnormal liver function tests, and negative rheumatoid factor and ANA. […] Elevated ferritin is often found and may assist in diagnosis, especially if it is associated with a low level of glycosylated ferritin.

• #10 Adult-onset Still disease – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/adult-onset-still-disease/

  Adult-onset Still disease (AOSD) is a rare inflammatory disorder characterized by intermittent fever, salmon-pink rash, symmetrical polyarthritis, and arthralgia. […] In patients with suggestive clinical features and laboratory findings (e.g., leukocytosis with neutrophilia, elevated ferritin levels), a comprehensive workup is needed to exclude alternative diagnoses (e.g., infections, autoimmune diseases, malignancy). […] Early referral to a specialist (e.g., rheumatology) is required for all patients with suspected AOSD. […] Diagnosis is based on: Suggestive clinical features and laboratory findings, Exclusion of alternative diagnoses. […] The Yamaguchi classification criteria may be used to support the diagnosis. […] CBC: Leukocytosis with neutrophilia and thrombocytosis support the diagnosis; leukopenia suggests macrophage activation syndrome.

• #10 Adult-onset Still disease – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/adult-onset-still-disease/

  Additional studies may be obtained to exclude alternative diagnoses in consultation with specialists. […] Macrophage activation syndrome should be suspected in patients with AOSD or systemic juvenile idiopathic arthritis and a normal or decreased WBC count, falling ESR, and/or increasing triglyceride levels. […] The Yamaguchi criteria for AOSD are the most widely used criteria; 5 criteria must be fulfilled, including 2 major criteria. […] The Yamaguchi classification criteria have high specificity but low sensitivity. They aim to standardize case definitions for enrollment in clinical trials, not to guide practice.

• #11

  https://empendium.com/mcmtextbook/table/B31.16.2-1.

  1) For the diagnosis of adult-onset Still disease, 5 criteria must be met, including 2 major. In patients with any of the exclusion criteria, the diagnosis is excluded. […] Sensitivity of the criteria is 80.6%, and specificity is 98.5%. […] According to this scale, 4 major criteria must be met for adult-onset Still disease to be considered (spiking fever of 39 degrees Celsius, arthralgia, transient erythema, pharyngitis, polymorphonuclear neutrophil count of 80%, glycosylated ferritin of 20%); or 3 major and 2 minor criteria (maculopapular rash and white blood cell count of 10109/L).

• #12 Adult Onset Still’s Disease, Diagnostic Criteria

  https://reference.medscape.com/calculator/196/adult-onset-still-s-disease-diagnostic-criteria

  Diagnose Adult Onset Still’s Disease. […] Establishing the diagnosis of Adult Onset Still’s Disease is challenging given the absence of specific diagnostic tests. While many diagnostic criteria have been proposed, the Yamagushi criteria have the highest sensitivity. […] The Yamaguchi criteria require the presence of five features, with at least two being major diagnostic criteria. […] Major criteria: Fever of at least 39C lasting at least one week, Arthralgias or arthritis lasting two weeks or longer, A nonpruritic macular or maculopapular skin rash that is salmon-colored in appearance and usually found over the trunk or extremities during febrile episodes, Leukocytosis (10,000/mL or greater), with at least 80 percent granulocytes. […] Minor criteria: Sore throat, Lymphadenopathy, Hepatomegaly or splenomegaly, Abnormal liver function studies, particularly elevations in aspartate and alanine aminotransferase and lactate dehydrogenase concentrations, Negative tests for antinuclear antibody and rheumatoid factor.

• #13 Adult-Onset Still Disease (AOSD) – Rheumatology – Diseases – McMaster Textbook of Internal Medicine

  https://empendium.com/mcmtextbook/chapter/B31.II.16.2.

  Adult-onset Still disease (AOSD) is a disease occurring in persons aged 16 years and resembling a systemic form of juvenile idiopathic arthritis. […] The condition was first described in 1971 in a case series of adult patients with symptoms reminiscent of children with Still disease (now known as systemic juvenile idiopathic arthritis). […] AOSD develops after the age of 16. In adults the symptoms may be due to the first occurrence of the disease or a relapse. […] Most frequently diagnosis is based on the Yamaguchi diagnostic criteria. […] The key categories of conditions in the differential diagnosis for AOSD are infections, malignancies, and autoimmune diseases. […] For the diagnosis of adult-onset Still disease, 5 criteria must be met, including 2 major. In patients with any of the exclusion criteria, the diagnosis is excluded.

• #14 Diagnosis and Treatment of Adult-Onset Still’s Disease

  https://www.ekjm.org/journal/view.php?doi=10.3904/kjm.2021.96.1.30

  Adult-onset Stills disease (AOSD) is an obscure disease that is usually diagnosed after the exclusion of other febrile diseases, including other autoimmune, infectious, and malignant diseases. […] Although definitive diagnostic criteria and treatment guidelines for AOSD are thus far lacking, the typical manifestations of AOSD have been identified and effective medications for remission and maintenance have been proposed. […] Diagnostic criteria and treatment guidelines for AOSD can be established by determining its core etiology and conducting clinical trials of previously tested immunosuppressants and biologics. […] Yamaguchi classification criteria for AOSD require five or more criteria (at least two of which are major), while Fautrel classification criteria require four or more major criteria or three major + two minor.

• #15 RheumaKnowledgy » Adult Onset Still’s Disease

  https://www.rheumaknowledgy.com/533-2/

  Adult Onset Still’s Disease is a systemic inflammatory disease that typically afflicts young adults. It is characterized by quotidian fevers, evanescent rashes, and chronic polyarthritis. […] Patients with AOSD should be seronegative for rheumatoid factor (RF) and antinuclear antibody (ANA). Neutrophilic leukocytosis (WBC 12.5), thrombocytosis, markedly elevated ESR (50% are 90 mm/hr and 90% are 50 mm/hr) or C-reactive protein levels ( 2.0 mg/dl). […] The diagnosis can be supported by the Yamaguchi criteria or the Cush criteria. According to the Cush criteria, a Probable AOSD diagnosis requires 10 points and 12-week disease/symptom duration. A Definite AOSD diagnosis requires 10 points and 6 month disease/symptom duration. […] This is a clinical diagnosis of exclusion. The evanescent rash and circadian fever (102F) that lasts weeks to months may be the most distinctive features of AOSD.

• #16 Adult Still disease: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000450.htm

  Adult Still disease (ASD) is a rare illness that causes high fevers, rash, and joint pain. It may lead to long-term (chronic) arthritis. […] AOSD can only be diagnosed after many other diseases (such as infections and cancer) are ruled out. You may need many medical tests before a final diagnosis is made. […] A physical exam may show a fever, rash, and arthritis. The health care provider will use a stethoscope to listen for changes in the sound of your heart or lungs. […] The following blood tests can be helpful in diagnosing adult Still disease: Complete blood count (CBC), may show a high number of white blood cells (granulocytes) and reduced number of red blood cells. C-reactive protein (CRP), a measure of inflammation, will be higher than normal. ESR (sedimentation rate), a measure of inflammation, will be higher than normal. Ferritin level will be very high. Fibrinogen level will be high. Liver function tests will show high levels of AST and ALT. Rheumatoid factor and ANA test will be negative. Blood cultures and viral studies will be negative. […] Other tests may be needed to check for inflammation of the joints, chest, liver, and spleen: Abdominal ultrasound, CT scan of the abdomen, X-rays of the joints, chest, or stomach area (abdomen).

• #17

  https://www.aiarthritis.org/stillsdisease

  We believe the shared experiences from Stills patients offers a better understanding of the disease and may assist with diagnosis. […] Stills Disease is a diagnosis of exclusion, requiring all other conditions to be ruled out first. […] Delayed diagnosis is common, as Stills Disease is often confused with infection. […] Although current research is developing, there are no specific tests or biomarkers. […] Common laboratory abnormalities for Stills Disease patients include: Elevated erythrocyte sedimentation rate (ESR), elevated leukocytes, especially neutrophils (white blood cells), thrombocytosis (high platelet count), elevated ferritin levels (sometimes dramatically), negative rheumatoid factor (RF) test, negative antinuclear antibodies (ANA) test, anemia, hypoalbuminemia, mild elevated liver enzymes.

• #18 Adult onset Still disease

  https://dermnetnz.org/topics/adult-onset-still-disease

  The diagnosis of adult-onset Still disease is made by the presence of the triad of symptoms: arthritis, fever and rash, and other symptoms described above. The diagnosis is supported by laboratory tests: […] Anaemia in 50% […] Elevated neutrophil count in 85% […] Negative rheumatoid factor.

• #19

  https://link.springer.com/article/10.1007/s00393-022-01294-2

  The Yamaguchi classification criteria have shown good diagnostic precision compared to other criteria and diagnostic approaches in cohort studies. Therefore, these criteria can be employed to ascertain the clinical diagnosis of AOSD made by an expert. […] Elevated serum ferritin levels were evaluated in many cohorts and case-control studies. For instance, in one case-control study that included patients with fever of unknown origin, raised ferritin values 5 times the upper level of normal were associated with a diagnosis of AOSD and with an odds ratio (OR) of 132.8. However, in a large cohort of US patients, raised ferritin serum levels 1000g/l were most commonly caused by malignancy, iron overload, infections, and renal failure. This finding stresses the importance of accompanying clinical signs for a diagnosis of AOSD.

• #19

  https://link.springer.com/article/10.1007/s00393-022-01294-2

  Elevated IL-18 serum levels were reported in several cohort and case-control studies with AOSD patients including various rheumatic diseases as comparators. In most studies, IL-18 serum levels were also associated with clinical disease activity. However, the use of IL-18 in daily practice is currently limited by the lack of a validated and certified commercially available assay.

• #20 Adult Onset Still’s Disease: A Case Report | British Journal of Medical Practitioners

  https://www.bjmp.org/content/adult-onset-stills-disease-case-report

  A diagnosis of AOSD should be kept in mind in case of pyrexia of unknown origin particularly in a patient who presents with high-grade intermittent fever, polyarthritis and skin rash of more than two weeks duration. […] Serum ferritin values can be powerful adjuncts in making the diagnosis of AOSD, where they are usually higher than other inflammatory diseases. […] Indeed, extreme elevation of serum ferritin up to 75,500 ng/mL has been reported in AOSD. […] Several investigators agree that ferritin levels above 1,000 ng/mL are suggestive of AOSD while levels greater than 4,000 ng/mL are very specific for this diagnosis when accompanied by a compatible clinical picture.

• #21 Frontiers | Bibliometrics and Visual Analysis of Adult-onset Still Disease (1976–2020)

  https://www.frontiersin.org/journals/public-health/articles/10.3389/fpubh.2022.884780/full

  Background: Adult-onset Still Disease (AoSD) is a rare disorder without standardized diagnostic criteria. […] The research on AoSD focuses on the diagnosis and differential diagnosis of the disease. […] Traditionally, the diagnostic criteria for AoSD have mainly been based on four main symptoms including fever, arthritis or joint pain, rash, and increased white blood cell and neutrophil counts. […] Fautrel proposed a new diagnostic classification criterion in 2002. His set of eight diagnostic classification criteria included spiking fever ≥39°C, arthralgia, maculopapular rash, transient erythema, pharyngitis, leukocyte count ≥10,000/mm³, polymorphonuclear count ≥80%, and glycosylated ferritin ≤20%. […] These newly proposed criteria may assist with this. […] However, existing clinical research sample sizes are small and prone to Type I or Type II errors. It is necessary to further expand the clinical sample size and clarify the safety and effectiveness of biological agents.

• #22 Clinical Challenges: When Diagnosing Adult-Onset Still’s Disease, Think Zebra | MedPage Today

  https://www.medpagetoday.com/clinical-challenges/acr-adult-onset-stills-disease/101820

  According to a practicing rheumatologist, fever doesn’t always mean an infection and hoofbeats don’t always mean a horse. Adult-onset Still’s disease (AOSD) is rare and „there really isn’t a set test to identify it,” said Christopher R. Morris, MD, of Arthritis Associates in Kingsport, Tennessee. „There is a lack of disease awareness. Patients can go for weeks and months with symptoms … Nobody bothers to put all of the pieces together to give them a diagnosis,” he told MedPage Today. Patients with this systemic inflammatory disorder usually present with achy swollen joints, as well as fever (quotidian fever greater than 100° F) and a salmon-colored rash over the trunk and arms that is mildly itchy, which both peak in the evening. Bloodwork typically reveals elevations in white blood cell count with a left shift, erythrocyte sedimentation rate, and C-reactive protein. Serum ferritin level is also extremely elevated (10,000 ng/mL), which can help clinicians in making a diagnosis of AOSD. Morris explained that, absent specific serologic, radiologic, or pathologic tests, AOSD is often diagnosed by exclusion. In most cases, clinicians see the presenting symptoms and suspect an infection. When the patient does not respond to antibiotics and an infectious organism is not identified, clinicians may begin to suspect cancer. This suspicion may be reinforced by the fact that most patients with AOSD have elevated liver function tests, leading to concerns that cancer may have metastasized to the liver. As a result, many patients undergo an extensive evaluation with whole-body imaging and histopathologic examination to exclude infections and malignancies prior to receiving a diagnosis of AOSD. In most cases, a rheumatologist is consulted once infection and cancer have been ruled out. Morris noted that the combination of elevated liver function tests and elevated ferritin in particular are most suggestive of AOSD, and clinicians who suspect AOSD should run these two tests. While no diagnostic criteria or biomarkers have been formally validated for AOSD, and the validation of such biomarkers is unlikely, considering the low incidence of disease, research has suggested that glycosylated ferritin (GF) may be an accurate diagnostic test for AOSD, even in patients without elevated ferritin. Recent research suggested an optimal GF cutoff value of 16% for AOSD diagnosis, yielding a specificity of 89% and a sensitivity of 63%. GF may also serve as a useful tool for AOSD prognosis in that patients with lower GF levels tend to have a worse prognosis in terms of intensive care unit admission and mortality. Likewise, GF may be able to identify patients in remission, with a threshold of >50% having a negative predictive value of 100% for AOSD.

• #23 Clinical Realities in Patients with Adult Onset Still’s Disease: Real-World Diagnosis and Management – ACR Meeting Abstracts

  https://acrabstracts.org/abstract/clinical-realities-in-patients-with-adult-onset-stills-disease-real-world-diagnosis-and-management/

  Conclusion: We characterized a cohort treated clinically as AOSD and identified that 20.5% did not fit any diagnostic criteria while only 30.8% met all three. It is imperative to recognize that not all patients neatly fit into established criteria, and patients may be excluded depending on which criteria was selected, highlighting the heterogeneity of the disease. Serum IL-18 levels were only measured in a portion of our cohort, but we observed an association between elevated serum IL-18 levels and worsening symptoms as noted by the treating rheumatologist. Continued disease characterization and measurement of serum IL-18 levels in AOSD patients, especially to further elucidate its potential role in AOSD diagnosis, is necessary in rare diseases where traditional diagnostic criteria may not be the clinical reality.

• #24 Adult-onset Still’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease

  Adult-onset Still’s disease (AOSD) is a form of Still’s disease, a rare systemic autoinflammatory disease characterized by the classic triad of fevers, joint pain, and a distinctive salmon-colored bumpy rash. The disease is considered a diagnosis of exclusion. […] AOSD may present in a similar manner to other inflammatory diseases and to autoimmune diseases, which must be ruled out before making the diagnosis. […] The diagnosis is clinical, not based upon serology. 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.

• #25 Adult Still disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/adult-stills-disease/diagnosis-treatment/drc-20351912

  No single test identifies adult Still disease. Imaging tests can reveal damage caused by the disease. Blood tests can help rule out other conditions that have similar symptoms. […] Antinuclear antibody (ANA) test […] C-reactive protein test […] CT scan […] Echocardiogram […] Ferritin test […] Sed rate (erythrocyte sedimentation rate) […] Ultrasound […] X-ray […] What tests do I need? […] What are other possible causes?

• #26 Adult-onset Still’s disease | Symptoms, treatments and new research

  https://versusarthritis.org/about-arthritis/conditions/adult-onset-still-s-disease/

  Adult-onset Stills disease, sometimes known as AOSD, is a rare type of inflammatory arthritis. As the name suggests, it can only be diagnosed in adults. […] It can sometimes be difficult to diagnose AOSD, because some of the symptoms such as the fevers, sore throat and rash can be confused with other problems, like infections, other autoimmune conditions or some types of cancer known as lymphoma. […] It’s important you mention all your symptoms when you see a doctor, as this can help them rule other things out. […] There’s no single test for AOSD, so your diagnosis will be based on: a history of your symptoms, a physical examination, blood tests, ruling out other conditions and infections. […] Blood tests will usually show a high level of inflammation in people with AOSD this is shown in two tests known as erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). […] You might need to have scans, such as magnetic resonance imaging (MRI) or x-rays as part of your diagnosis, but these aren’t always helpful in diagnosing AOSD as the condition may not have any visible signs.

• #27 What is adult-onset Still’s disease (AOSD)? | NRAS

  https://nras.org.uk/resource/what-is-adult-onset-stills-disease-aosd/

  Blood tests such as ESR and CRP confirm a high level of inflammation. […] Other rheumatoid arthritis tests, such as rheumatoid factor and anti-CCP antibody, as well as the other auto-antibodies, are all negative. […] Very often, the full blood count will show a high white blood cell count and platelet count, but there will be anaemia (low haemoglobin). […] In contrast, the ferritin, which is the iron storage protein, will be very high, and this is often used as a diagnostic test. […] X-rays of the joints in the early stage are very unlikely to show any abnormality. […] Although joint swelling can be seen on x-ray, ultrasound would be more useful as a test to visualize inflammation of the joints. […] Once the diagnosis has been made, treatment needs to be commenced in order to relieve symptoms and suppress inflammation.

• #28 Get Adult-Onset Still’s Disease Care | Cleveland Clinic

  https://my.clevelandclinic.org/services/adult-onset-stills-disease-treatment

  Adult-onset Stills disease can affect your spleen, liver, heart and lungs. It can also cause your joints to break down. […] No single test can identify adult-onset Stills disease. So your provider may order several different ones to confirm a diagnosis and to rule out other conditions that cause similar symptoms. […] Our team will check your blood and urine (pee) for signs of inflammation and infection in your body. We may also test the fluid inside your joints to learn more about the cause of your joint pain. […] We might do imaging tests to see if there’s inflammation in your joints, chest, heart, lungs and other organs: CT scan, X-ray, Ultrasound, MRI, Echocardiogram. […] But our experienced specialists know what to look for, so they can put the puzzle pieces together and get you on the road to relief.

• #29 Adult-Onset Still Disease – What You Need to Know

  https://www.drugs.com/cg/adult-onset-still-disease.html

  How is AOSD diagnosed? No test is available to diagnose AOSD. Other diseases and conditions need to be ruled out, such as an infection. Your healthcare provider will examine you and ask about your symptoms. Tell your provider if you have a family history of arthritis. Your provider may refer you to a rheumatologist (inflammatory disease specialist). You may also need any of the following: […] Blood tests are used to check the amount of inflammation in your blood. The tests are also used to check how well your organs are working. Your provider will also check for other diseases or conditions that may be causing your symptoms. […] Ultrasound or CT scan pictures may be used to check for inflammation or to see if your organs are larger than usual. […] X-ray pictures may be taken to check for joint damage or inflammation.

• #30 Comprehensive Treatment for Still’s Disease in Atlanta

  https://argmd.net/conditions-we-treat/adult-onset-stills-disease/

  Diagnosis of Adult-Onset Stills Disease involves a combination of medical history, physical examination, blood tests, and imaging tests. […] Medical History and Physical Examination: Conducted by a rheumatologist at Arthritis and Rheumatology of Georgia to assess symptoms and rule out other conditions. […] Blood Tests: Erythrocyte Sedimentation Rate (ESR) and C-reactive Protein (CRP): Markers of inflammation. […] Ferritin Levels: Elevated ferritin levels are common in AOSD. […] Complete Blood Count (CBC): To check for anemia and leukocytosis (high white blood cell count). […] Imaging Tests: X-rays: To assess joint damage and inflammation. […] Ultrasound or CT Scan: To evaluate organ enlargement and inflammation.

• #31 EULAR/PReS recommendations for the diagnosis and management of Still’s disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still’s disease | Annals of the Rheumatic Diseases

  https://ard.bmj.com/content/83/12/1614

  The TF favoured to use the same outcome irrespectively of patient age, and proposed to define two main targets derived from the consensus proposals of Wallace et al for JIA. […] The TF acknowledges the efficacy of GCs in managing Stills disease. […] The TF recommends that the addition of the above-mentioned treatments is considered in patients with initial unsatisfactory response to high dose GCs and in patients with severe MAS and rapid worsening. […] The TF considered important to warn physicians that Stills disease is a challenging condition in which severe or life-threatening complications may occur abruptly at any time during the disease course. […] The TF highlighted that patient monitoring and follow-up should be careful and that the patients should be advised to contact the treatment team in case of relapse/flare or new unexpected symptoms.

• #31 EULAR/PReS recommendations for the diagnosis and management of Still’s disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still’s disease | Annals of the Rheumatic Diseases

  https://ard.bmj.com/content/83/12/1614

  Systemic juvenile idiopathic arthritis (sJIA) and adult-onset Stills disease (AOSD) are considered the same disease, but a common approach for diagnosis and management is still missing. […] The TF agreed during a first meeting to address four topics: similarity between sJIA and AOSD, diagnostic biomarkers, therapeutic targets and strategies and complications including macrophage activation syndrome (MAS). Systematic literature reviews were conducted accordingly. […] The TF based their recommendations on four overarching principles, highlighting notably that sJIA and AOSD are one disease, to be designated by one name, Stills disease. […] Fourteen specific recommendations were issued. […] The optimal therapeutic strategy relies on early use of interleukin (IL-1 or IL-6 inhibitors associated to short duration glucocorticoid (GC).

• #31 EULAR/PReS recommendations for the diagnosis and management of Still’s disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still’s disease | Annals of the Rheumatic Diseases

  https://ard.bmj.com/content/83/12/1614

  The TF recommends that IL-1 and IL-6 inhibitors should not be withdrawn and thus should be continued in patients with Stills LD. […] The TF emphasises that the presently available evidence is not sufficient to withdraw efficacious therapies with IL-1 or IL-6 inhibitors, considering the fact that their withdrawal is not associated with significant improvement in most patients. […] This effort reconciles views and positions of paediatricians and adult rheumatologists. Importantly, this effort sets new goals to address key issues in order to achieve optimal patient management: a common set of diagnostic/classification criteria, possibly including modern biomarkers, a common disease activity measure and, last but not least, a better understanding of the pathogenic pathways, with particular focus on D2T patients, MAS and LD.

• #32 Clinical characteristics and treatment of elderly onset adult-onset Still’s disease | Scientific Reports

  https://www.nature.com/articles/s41598-022-10932-3

  Adult-onset Stills disease (AOSD) is a systemic inflammatory disease often occurs at a young age. Recently, elderly onset patient proportion has been increasing; however, data are limited. To evaluate the characteristics of elderly patients with AOSD in a multicenter cohort, we retrospectively analyzed 62 patients with AOSD at five hospitals during April 2008-December 2020. Patients were divided into two groups according to age at disease onset: younger-onset (64 years) and elderly onset (65 years). Clinical symptoms, complications, laboratory findings, treatment, and outcomes were compared. […] Elderly AOSD is not uncommon; these patients have different characteristics than younger-onset patients. Devising a way to control disease activity quickly while managing infections may be an important goal in elderly AOSD.

• #33 Diagnosis of Adult-Onset Still’s Disease

  https://www.medindia.net/health/conditions/diagnosis-of-adult-onset-stills-disease.htm

  Imaging tests (eg, X-rays, ultrasound, CT) identify the extent of damage within the body due to AOSD. Imaging tests can identify the following conditions: Inflammation of joints, Inflammation of the abdomen, Enlarged spleen, Buildup of fluid between the chest cavity and the lining of lungs (pleural effusion), Inflammation of the lining of the heart (pericarditis).

• #34

  https://link.springer.com/article/10.1007/s40744-022-00516-y

  The diagnosis of adult-onset Stills disease (AOSD) is often delayed due to its clinical heterogeneity and lack of pathognomic features. […] The major aim of this study was to compare the differences in disease outcomes between two groups of AOSD patients with and without implementation of the streamlined diagnostic process (SDP). […] The SDP was implemented for expediting AOSD diagnosis in 41 (36%) enrolled patients (SDP-implemented group). […] The diagnosis lag period was significantly shorter in the SDP-implemented group (median 2.0 weeks, interquartile range [IQR] 1.0-2.5 weeks) than in the non-SDP-implemented group (4.0 weeks, IQR 2.0-6.0 weeks, p<0.001). [...] A significantly higher proportion of early diagnosis was also found in the SDP-implemented group (75.6%) compared with the non-SDP-implemented group (33.8%, p<0.001).

• #34

  https://link.springer.com/article/10.1007/s40744-022-00516-y

  We revealed a significantly higher proportion of achieving remission in the SDP-implemented group (85.4%) compared with the non-SDP-implemented group (67.6%, p<0.05). [...] Implementing an SDP for expediting diagnosis could improve outcomes for AOSD patients. [...] This diagnostic process increased the early diagnosis rate and led to a higher disease remission rate. [...] The SDP, which mainly detects the presence of neutrophilia, hyperferritinemia, and a high interleukin (IL)-18 level, is proposed to expedite AOSD diagnosis. [...] Implementing the SDP may increase the probability of an early diagnosis of AOSD. [...] Our results show that implementing SDP could expedite the diagnostic process and improve outcomes of AOSD patients.

• #35 Inflammatory Disorders: Adult Onset Still’s Disease | HSS

  https://www.hss.edu/condition-list_adult-onset-stills-disease.asp

  Diagnosis is made after: […] a thorough examination and consideration of symptoms and medical history […] the exclusion of mimickers of infectious, autoimmune or neoplastic causes […] consideration of non-specific laboratory abnormalities such as peripheral leukocytosis and elevation of serum ferritin and other acute phase reactants.

• #36 Adult-onset Still’s Disease, a Challenging Diagnosis of Exclusion

  https://pubs.sciepub.com/ajmcr/11/12/2/index.html

  We report a case of Adult-onset Stills Disease (AoSD) in a 55-year-old male without prior rheumatological history. […] Diagnosis is through clinical classification systems including the Yamaguchi or Fautrel criteria and considered after a thorough diagnosis of exclusion. […] However, diagnosis is challenging as AoSD is rare, has overlapping presentations with other conditions, and lacks definitive diagnostic labs or imaging. […] This often results in improper and delayed diagnosis in up to 80% of patients eventually diagnosed with AoSD. […] Diagnosis of AoSD was challenging in our patient given the nonspecific symptoms mimicking infection coupled with a cardiac murmur later found to be aortic stenosis. […] Without a TEE, there remained heightened suspicion for blood culture-negative endocarditis despite a negative TTE and cultures without growth.

• #37 Adult onset Still’s disease in the elderly: a case-based literature review | BMC Rheumatology | Full Text

  https://bmcrheumatol.biomedcentral.com/articles/10.1186/s41927-021-00183-6

  Delayed diagnosis was defined as diagnosis made later than 1 month with a prevalence as high as 90%. […] This finding calls for attention as it diverges from the classic non-pruritic rash of Yamaguchi criteria, which is the most widely universally used diagnostic criteria by clinicians. This can potentially lead to missed cases of AOSD whom present with atypical symptoms such as pruritic rash, delaying diagnosis and treatment. […] The complicated course of the present case and results of our literature review highlight the prevalence of atypical presentations of AOSD in the elderly. Notable distinguishing features include a female predominance, a pruritic rash, a mildly increased evidence of MAS, and a lower MAS-associated mortality rate in this age group. Thus, we conclude that old age and pruritic rash should not be considered exclusionary for AOSD and that current available criteria, although helpful, are not absolute, especially in cases with atypical features.

• #37 Adult onset Still’s disease in the elderly: a case-based literature review | BMC Rheumatology | Full Text

  https://bmcrheumatol.biomedcentral.com/articles/10.1186/s41927-021-00183-6

  Adult onset Stills disease (AOSD) is a rare inflammatory disorder that classically presents with high spiking fevers, evanescent rash, and arthritis. The diagnosis is one of exclusion and can be further complicated by atypical presentations, particularly in elderly patients in whom AOSD is very rare. […] AOSD in the elderly is rare and not well studied, therefore its prevalence and characteristics in this age group are not well understood. This can potentially lead to misdiagnosis or delayed diagnosis in this population, subsequently leading to delay in proper management and possible increase in complications. […] AOSD in the elderly may vary from the classic criteria described in the medical literature and may lead to delayed diagnosis and management. Further evaluation and better characterization of AOSD in the elderly remains an area of interest.

• #38

  https://journals.lww.com/md-journal/fulltext/2017/03170/adult_onset_still_s_disease_with_atypical.28.aspx

  The diagnosis of adult-onset Still’s disease (AOSD) can be very difficult. There are no specific tests available, and diagnosis is usually based on a symptom complex and the well-described typical evanescent rash seen in the majority of patients. However, in recent years, other atypical cutaneous manifestations of AOSD have been reported. These atypical skin eruptions often present in addition to the typical evanescent rash but may also be the only skin manifestation, resulting in delayed diagnosis because of under-recognition. […] Laboratory markers, particularly the presence of leukocytosis with neutrophilia and marked hyperferritinemia, are suggestive of AOSD, but clinicians often rely on the typical evanescent, salmon-pink, maculopapular eruption to make the diagnosis. […] The appearance of atypical skin features in AOSD is not uncommon, with a prevalence of 14% according to our experience during a 30-year period. They may appear at any time over the course of the disease. In the great majority of cases, the atypical skin eruption presented at the time of disease onset concurrently with systemic symptoms, or shortly afterward. Rarely, cutaneous lesions were the presenting feature of AOSD preceding the appearance of the classic symptoms of the disease or appeared during a flare several months after the diagnosis.

• #38

  https://journals.lww.com/md-journal/fulltext/2017/03170/adult_onset_still_s_disease_with_atypical.28.aspx

  Interestingly, persistent pruritic papules and plaques show a distinctive histological pattern characterized by singly or aggregated dyskeratotic/necrotic keratinocytes in the upper layers of the epidermis in association with a perivascular inflammatory infiltrate in the upper and mid-dermis. […] Thus, a skin biopsy of atypical eruptions is recommended (specially in patients who do not yet fulfill the Yamaguchi criteria) because the histologic features and the previously discussed distinctive pattern can be considered to be highly suggestive of AOSD. […] The development of atypical cutaneous manifestations seems to be associated with a potentially worse prognosis (especially those with persistent pruritic papules and plaques with dermatomyositis-type appearance), with a mortality rate that reached 8% primarily because of infectious complications related to the immunosuppressive therapy. […] In conclusion, the appearance of atypical cutaneous manifestations is not uncommon in AOSD. Recognition of this clinical variant is crucial for the early diagnosis of AOSD, as it might imply persistent disease activity and the need for more aggressive treatment.

• #39

  https://journals.lww.com/idoj/fulltext/2021/12050/dermato_pathologic_clues_to_diagnosis_of_adult.12.aspx

  The features were compatible with cutaneous manifestations of AOSD described in recent literature. […] Overall, it fulfilled the Yamaguchi’s criteria of ASOD. […] Diagnosis is usually made after exclusion of infection, autoimmune diseases, and hematologic malignancy. Yamaguchi’s criteria which included clinical and biochemical parameters are commonly used for diagnosis. […] A negative RF and ANA have been reported in literature with 93%100% accuracy. […] Serum ferritin is usually higher in patients diagnosed with AOSD. […] High serum ferritin level has been reported to be associated with disease activity, chronic recurrent flares, and reactive hemophagocytic lymphohistiocytosis. […] To conclude, a complete and careful evaluation of skin lesions with proper site selection for biopsy and histopathological examination is very important for early diagnosis and outcome in patients with AOSD.

• #40 Adult-onset Still’s disease and the role of dermatological manifestations: A case report and literature review

  https://www.spandidos-publications.com/10.3892/etm.2020.9515

  Better diagnostic tests are needed, and new immunological tests, such as IL18, may prove useful in the near future for diagnosis setting, as well as for monitoring disease activity and response to treatment. […] In the end, the positive diagnosis is an exclusion diagnosis, and differential diagnosis may take a long time.

• #41 Diagnosis and management of adult onset Still’s disease.

  https://vivo.weill.cornell.edu/display/pubid16219707

  BACKGROUND: Adult onset Still’s disease (AOSD) is a rare systemic inflammatory disorder of unknown aetiology that is responsible for a significant proportion of cases of fever of unknown origin and can also have serious musculoskeletal sequelae. […] Diagnosis is clinical and requires exclusion of infectious, neoplastic, and other autoimmune diseases. […] The emergence of validated diagnostic criteria, discovery of better serological markers, and the application of new biological agents may all provide the clinician with significant tools for the diagnosis and management of this complex systemic disorder.

• #42 Adult-onset Still’s disease: A diagnosis to remember – International Journal of Case Reports and Images (IJCRI)

  https://www.ijcasereportsandimages.com/archive/article-full-text/101085Z01AM2020

  Adult-onset Stills disease (AOSD) is a rare systemic inflammatory disorder that occurs mainly in young people. It characteristically presents with the triad of high-grade fever, arthralgia, and salmon-colored evanescent rash, and is a diagnosis of exclusion. […] The difficulty in the diagnosis of AOSD is related to the heterogeneity and nonspecificity of clinical symptoms. In the absence of pathognomonic features or diagnostic tests, this diagnosis implies a high clinical suspicion. […] The differential diagnosis is extensive and there are no specific pathological finding or diagnostic test. Therefore, the diagnosis is based on clinical and analytical findings and exclusion of other diseases. The Yamaguchi criteria are used to help to establish the diagnosis and require the presence of five of the following features, with at least two being major diagnostic criteria. […] The treatment of AOSD is based on nonsteroidal anti-inflammatory drugs and on corticosteroids. If first-line treatment is unsuccessful, or in cases of corticosteroids dependence, immunosuppressive agents, such as methotrexate or cyclosporine, are added.

• #43 Adult-onset Still’s disease: evaluation of prognostic tools and validation of the systemic score by analysis of 100 cases from three centers | BMC Medicine | Full Text

  https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-016-0738-8

  Adult-onset Stills disease (AOSD) is rare inflammatory disease of unknown etiology that usually affects young adults. The diagnosis is often delayed because of the low specificity of most findings. However, the favorable effects of an early diagnosis on prognosis have been underlined. Our study showed that a higher systemic score and the presence of AOSD-related complications at the time of diagnosis were significantly associated with mortality. Of note, a cut-off at 7.0 of the systemic score showed a strong prognostic impact in identifying patients at risk of AOSD-related death. […] Our results showed that the higher values of the systemic score, the presence of AOSD-related complication, and the presence of comorbidities were associated with the outcome. The results suggest that higher values of the systemic score or the presence of comorbidities at the time of diagnosis were predictive of a more severe outcome than the monocyclic form. Furthermore, the higher values of the systemic score or the presence of AOSD-related complications at the time of diagnosis were significantly associated with mortality in our cohort, our study showed that AOSD-related complications are the main clinical features negatively influencing the survival of AOSD patients. […] In fact, our study confirms that a cut-off at 7.0 of the systemic score at the time of diagnosis identifies those patients at higher risk of AOSD-related death. Our results suggest that multi-organ involvement at the time of diagnosis is predictive of a more severe outcome and increased mortality.

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