Autoinflammation leading to autoimmunity in adult-onset Still's disease: more than simple coincidence?

BACKGROUND: Adult-onset Still's disease (AOSD) should be considered in the differential diagnosis of patients with endocarditis, with or without a cardiac decompensation. CASE PRESENTATION: We report the case of a 68-year-old Caucasian male diagnosed with AOSD after an initial acute manifestation of endocarditis with severe aortic acute manifestation of endocarditis with severe aortic insufficiency. The histological findings revealed Libman-Sacks endocarditis. He was treated with the IL-1 receptor inhibitor anakinra. Two years later the patient developed a symptomatic dilated cardiomyopathy with reduced ejection fraction (23.5%) and functional anti-beta-1-adrenergic receptor antibodies, which was initially treated with plasmapheresis; anakinra was maintained. While his AOSD symptoms responded well, our patient presented with recurrent arthritis in multiple joints, dual-energy CT showed urate deposition compatible with a gouty arthropathy. Over 7 years, he presented with recurrent episodes of arthritis and the adjustment of dosages of colchicine and febuxostat was needed. In 2018, our patient died due to a deterioration of his underlying cardiac disease. CONCLUSIONS: Only two cases with initial endocarditis prior to AOSD diagnosis have been published, and we are not aware of any other cases reporting -ß1AR-Ab development with DCM and gout in the setting of AOSD treated with anakinra.

Ferritin, fever, and frequent visits: Hyperferritinemic syndromes in the emergency department.

Fever of unknown origin (FUO) is defined as persistent fevers without an identifiable cause despite extensive medical workup. Emergency physicians caring for patients reporting a persistent, nonspecific, febrile illness should carefully consider potentially serious non-infectious causes of FUO. We present a case of a 35-year-old man who presented to the emergency department (ED) three times over a 10-day period for persistent febrile illness and was ultimately diagnosed with Adult-Onset Still's Disease (AOSD) after a serum ferritin level was found to be over 42,000 µg/L. AOSD, along with macrophage activation syndrome, catastrophic antiphospholipid syndrome, and septic shock comprise the four hyperferritinemic syndromes. These are potentially life-threatening febrile illnesses that characteristically present with elevated ferritin levels. In this article, we highlight the value of a serum ferritin level in the workup of a patient with prolonged febrile illness and its utility in facilitating early diagnosis and prompt treatment of hyperferritinemic syndromes in the ED.

Corticosteroid-induced exacerbation of cryptic miliary tuberculosis to acute respiratory distress syndrome: A case report.

RATIONALE: Steroid is known to cause generalized immunosuppression, thereby increasing the risk of new infection or recurrence of tuberculosis. However, corticosteroid as a culprit for exacerbation of miliary tuberculosis-from a cryptic to an overt form-has rarely been described in the literature. Moreover, miliary tuberculosis is hardly diagnosed in a living patient as a primary cause of ARDS even in TB-endemic regions. To the best of our knowledge, this is the first case of a steroid-induced progression of cryptic miliary tuberculosis to ARDS, provided with clear depiction of its radiologic evolution. PATIENT CONCERNS: A 36-year-old male was treated with corticosteroid under suspicion of adult onset still's disease for six-week history of fever. Within 2 weeks since the initiation of corticosteroid therapy, the patient experienced acute exacerbation of cryptic miliary tuberculosis, which evolved to an overt form, appearing as miliary nodules on both chest radiograph and HRCT. Then, his condition suddenly deteriorated to severe acute respiratory distress syndrome in less than a day. DIAGNOSIS: The final diagnosis was miliary tuberculosis complicated by severe acute respiratory distress syndrome. INTERVENTIONS: The patient was placed on classic quadruple anti-TB treatment (isoniazide, ethambutol, rifampin, and pyrazinamide). OUTCOMES: His fever subsided in about 6 weeks and 3 consecutive sputum AFB smears collected on different days were confirmed negative. Diffuse infiltrates on his chest x-ray were completely resolved. LESSONS: The case described here draws a clinical and radiological picture of how an occult form of miliary TB evolved to an overt form with use of steroid, and then suddenly progressed to acute respiratory distress syndrome in an immunocompetent young male. This raises awareness on the potential risk of using corticosteroid in patients with cryptic miliary TB. There is formidable challenge in the diagnosis of miliary TB, especially in the early stages. Atypical or even normal outcomes of clinical, microbiochemical, and radiologic evaluation should not be overlooked and dedicated diagnostic work-up should be performed. For equivocal cases, active surveillance with serial radiographs can be helpful.

Current treatment options and safety considerations when treating adult-onset Still's disease.

INTRODUCTION: Adult onset Still disease (AOSD) is a rare systemic inflammatory condition. The clinical spectrum of this disease ranges from self-limiting forms with mild symptoms to life-threatening cases. Glucocorticoids and non-steroidal anti-inflammatory drugs (NSAIDs) represent the first line of therapy for AOSD, with add-on therapy with second-line drug reserved to steroid-dependent patients and in life-threatening cases. Currently, early treatment with conventional disease modifying anti-rheumatic drugs (DMARDs) and biologic agents blocking causal cytokines is advocated in patients with severe and recalcitrant clinical manifestations. AREAS COVERED: This review analyzes the available controlled evidence and observational data regarding the efficacy and safety of conventional and biological pharmacological agents in the treatment of AOSD. EXPERT OPINION: Non-steroidal anti-inflammatory drugs (NSAIDs) and glucocorticoids are effective in controlling clinical manifestations in the majority of AOSD patients. Conventional DMARDs can be 20 effective in some severe and steroid-dependent cases of AOSD; however, anti-cytokine agents represent an effective and overall more suitable alternative in this specific subset of patients. IL-1 and IL-6 blockade are effective in treating systemic and articular inflammation of AOSD patients. IL-1 blockade also has an excellent safety profile and therefore represent the first choice of biologic treatment in this clinical scenario.

Adult-onset Still's disease in a 73-year-old Maltese man.

Adult-onset Still's disease (AOSD) is a rare autoinflammatory condition diagnosed by Yamaguchi criteria. We report an atypical presentation of a 73-year-old man, who was admitted with fever, sore throat and pleurisy that were unresponsive to three courses of antibiotics. Fever persisted in a quotidian pattern and the typical salmon-coloured rash consistent with AOSD appeared at 4 weeks from symptoms onset. These features in addition to neutrophilia and hyperferritinaemia in the absence of concurrent infectious and neoplastic causes satisfied Yamaguchi criteria for a diagnosis of AOSD. Epstein-Barr antigen was initially detected at moderate titre levels, but was undetectable after 1 week. Complete resolution of symptoms was reported on initiation of steroid treatment. A relationship between disease onset and viral syndromes has been documented to occur and few similar cases preceded by Epstein-Barr virus detection have been reported.

Adult-onset still's disease, an unusual cause of severe acute liver injury: A case report.

Adult-onset Still's disease is a systemic inflammatory disease that often presents with spiking fever, typical rash, arthritis, and serositis. However, adult-onset-Still's-disease associated liver injury and acute liver failure are rare. Herein, we report a case of acute liver injury in a 23-year-old female patient with adult-onset Still's disease. She presented to the emergency department with a high fever and sore throat. She was then admitted to the department of infectious diseases with a preliminary diagnosis of an atypical respiratory infection. After being treated with antibiotics and antiviral agents, she was discharged. A few days later, she returned to the emergency department with jaundice and was rehospitalized. This time, she was admitted to the department of gastroenterology, where she was diagnosed with adult-onset Still's disease-associated acute liver injury. Eventually, the patient responded to immunosuppressive treatment with significant clinical improvement.

Prescribing motivations and patients' characteristics related to the use of biologic drugs in adult-onset Still's disease: analysis of a multicentre "real-life" cohort.

A growing body of evidence suggests the usability of biologic disease-modifying anti-rheumatic drugs (bDMARDs) in treating adult-onset Still's disease (AOSD). In a multicentre "real-life" cohort, the physicians' prescribing motivations and patients' predictive characteristics of being treated with bDMARDs were assessed. Patients with AOSD, who were included in GIRRCS (Gruppo Italiano di Ricerca in Reumatologia Clinica e Sperimentale) cohort and treated with bDMARDs, were retrospectively assessed. Relevant data were collected by a review of clinical charts. Forty-four patients treated with bDMARDs were analysed, with slight male preponderance (52.3%) and a mean age of 39.3 ± 15.2 years. All patients were treated with corticosteroids (CCSs) (38.6% with low dosage) and 93.2% were treated with synthetic DMARDs (sDMARDs). Regarding the effectiveness of the first-line bDMARD, 65.6% of patients experienced a complete remission, defined as complete disappearance of both systemic and joint symptoms and normalisation of laboratory evidence of disease. The physicians' prescribing motivations for bDMARDs were inadequate response to CCSs and/or sDMARDs, CCS-sparing effect and occurrence of macrophage activation syndrome (MAS). Analysing patients' characteristics, chronic disease course (OR 3.09; 95%CI 1.22-7.80, p = 0.017), defined as disease with persistent symptoms, was predictive of being treated with bDMARDs, whereas age (OR 0.97, 95%CI 0.93-0.99, p = 0.048) was negatively associated, suggesting younger age as a further predictive factor. Patients with AOSD were treated with bDMARDs for inadequate response to CCSs and/or sDMARDs, CCS-sparing effect and MAS occurrence. Younger age and chronic disease course were patients' predictive characteristics of being treated with bDMARDs.

Complex presentation of adult-onset Still's disease.

A 61-year-old woman was admitted with feeling generally unwell with influenza-like symptoms, for almost a month. This was followed by dyspnoea, productive cough and fever of >40°C. She was started on oral antibiotics in community, but due to rising inflammatory markers, she was referred for admission to our hospital. Chest X-ray showed left basal pneumonia and SE was started on intravenous antibiotics according to microbiologist's advice. During admission she developed deranged liver functions with right upper quadrant tenderness, pleural and pericardial effusions. This was followed by multiple joint aches, mouth ulcers and a rash on her chest. Finally, after several days and clinical dilemma, she was diagnosed with adult-onset Still's disease by the rheumatologist and was started on prednisolone, to which she showed marked improvement, and was later maintained on methotrexate and hydrotherapy. She was in remission during her follow-up in the rheumatology clinic.

Association between fever pattern and clinical manifestations of adult-onset Still's disease: unbiased analysis using hierarchical clustering.

OBJECTIVES: To perform unbiased analysis of fever patterns and to investigate their association with clinical manifestations and outcome of patients with adult-onset Still's disease (AOSD). METHODS: AOSD patients who were treated as in-patients from 2004 through 2015 were grouped according to 24-hour body temperature (BT) by hierarchical clustering using a Euclidean distance metric with complete linkage. The clinical and laboratory characteristics of the groups were then examined. RESULTS: Hierarchical clustering partitioned 70 AOSD patients into three distinct groups. Group 1 (n=14) had the highest mean BT (38.1± 0.4°C) and the widest variation in BT (2.7±0.9°C). Group 2 (n=35) had a lower mean BT (37.4±0.3°C) and a smaller variation (2.1±0.7°C). Group 3 (n=21) had the lowest mean BT (36.7±0.3°C) and the smallest variation (1.5±0.6°C). Clinical features and extent of organ involvement did not differ significantly between groups. However, Group 1 had lower platelet counts and higher lactate dehydrogenase, ferritin levels, and prothrombin time than the other groups. In addition, Group 1 exhibited higher risk of having a macrophage activation syndrome (MAS) and tended to require more intense treatment with corticosteroids and immunosuppressant to achieve clinical remission as compared to other groups. CONCLUSIONS: Hierarchical clustering identified three distinct fever patterns in patients with AOSD. Higher BT was associated with wider variations in diurnal temperature, higher risk of developing MAS, more intense treatment, and longer time to clinical remission, suggesting that fever pattern is a prognostic factor for AOSD.

Urticaria como forma de presentación de enfermedad de Still del adulto / Urticaria as a presentation of adult-onset still's disease

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Musculoskeletal Manifestations of Non-RA Connective Tissue Diseases: Scleroderma, Systemic Lupus Erythematosus, Still's Disease, Dermatomyositis/Polymyositis, Sjögren's Syndrome, and Mixed Connective Tissue Disease.

The most common systemic rheumatologic conditions are connective tissue diseases (including rheumatoid arthritis [RA]) followed by spondyloarthropathy. With the advent of biotherapies and imaging biomarkers, development in the imaging of RA and spondyloarthropathies has received substantial attention in the literature. This article details the various musculoskeletal imaging features of the other connective tissue diseases such as scleroderma and progressive systemic sclerosis, systemic lupus erythematosus, Still's disease, dermatomyositis and polymyositis, Sjögren's syndrome, and mixed connective tissue disease.

Adult-onset Still's disease with prominent polyserositis.

Adult-onset Still's disease is a systemic autoinflammatory disease the presentation of which can often mimic infection. As a consequence, there is often a delay in diagnosis. Serositis is a recognised but less common clinical feature that can result in complications including cardiac tamponade and constrictive pericarditis. We describe a case of adult-onset Still's disease without the hallmark rash or significant arthritis, presenting with polyserositis that showed a good response to initial steroid treatment and sustained remission with anakinra. An elevated procalcitonin level was due to active adult-onset Still's disease, not bacterial infection.

A Rare Ocular Manifestation of Adult Onset Still's Disease: Purtscher's-like Retinopathy.

Adult-onset Still's disease (AOSD) is a rare multisystemic immune-mediated disease of unknown etiology with quotidian spiking fever, evanescent rash, arthralgia, and multiple organ involvement. The few AOSD cases that have been reported developed Purtscher's-like retinopathy associated with thrombotic microangiopathy (TMA). Here, we report Purtscher's-like retinopathy without TMA in a patient with AOSD. A 29-year-old-man who presented for evaluation of blurred vision was diagnosed with AOSD based on Yamaguchi criteria. He had Purtscher's-like retinopathy in his right eye. Lesions improved after steroid treatment. Although almost all reported AOSD cases with Purtscher's-like retinopathy are associated with TMA, in this case such a complication was not encountered.