scholarly journals USAID Associated with Myeloid Neoplasm and VEXAS Syndrome: Two Differential Diagnoses of Suspected Adult Onset Still’s Disease in Elderly Patients

2021 ◽  
Vol 10 (23) ◽  
pp. 5586
Author(s):  
Marion Delplanque ◽  
Achille Aouba ◽  
Pierre Hirsch ◽  
Pierre Fenaux ◽  
Julie Graveleau ◽  
...  
Keyword(s):  
Adult Onset Still’S Disease ◽  
Control Group ◽  
High Dose ◽  
Adult Onset ◽  
Still’S Disease ◽  
Hematopoietic Malignancy ◽  
Male Predominance ◽  
Still's Disease ◽  
Systemic Symptoms ◽  
Adult Onset Still's Disease

Background: Patients with solid cancers and hematopoietic malignancy can experience systemic symptoms compatible with adult-onset Still’s disease (AOSD). The newly described VEXAS, associated with somatic UBA1 mutations, exhibits an overlap of clinical and/or biological pictures with auto inflammatory signs and myelodysplastic syndrome (MDS). Objectives: To describe a cohort of patients with signs of undifferentiated systemic autoinflammatory disorder (USAID) concordant with AOSD and MDS/chronic myelomonocytic leukemia (CMML) and the prevalence of VEXAS proposed management and outcome. Methods: A French multicenter retrospective study from the MINHEMON study group also used for other published works with the support of multidisciplinary and complementary networks of physicians and a control group of 104 MDS/CMML. Results: Twenty-six patients were included with a median age at first signs of USAID of 70.5 years with male predominance (4:1). Five patients met the criteria for confirmed AOSD. The most frequent subtypes were MDS with a blast excess (31%) and MDS with multilineage dysplasia (18%). Seven patients presented with acute myeloid leukemia and twelve died during a median follow-up of 2.5 years. Six out of 18 tested patients displayed a somatic UBA1 mutation concordant with VEXAS, including one woman. High-dose corticosteroids led to a response in 13/16 cases and targeted biological therapy alone or in association in 10/12 patients (anakinra, tocilizumab, and infliximab). Azacytidine resulted in complete or partial response in systemic symptoms for 10/12 (83%) patients including 3 VEXAS. Conclusion: Systemic form of VEXAS syndrome can mimic AOSD. The suspicion of USAID or AOSD in older males with atypia should prompt an evaluation of underlying MDS and assessment of somatic UBA1 mutation.

Urticaria as a Cutaneous Sign of Adult-Onset Still's Disease

2006 ◽  
Vol 10 (2) ◽  
pp. 99-103 ◽  
Author(s):  
Roberta F. J. Criado ◽  
Paulo Ricardo Criado ◽  
Cidia Vasconcellos ◽  
José Carlos M. Szajubok ◽  
Nilceo S. Michalany ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Antibody Test ◽  
Adult Onset Still’S Disease ◽  
Adult Onset ◽  
Still’S Disease ◽  
Cutaneous Lesions ◽  
Still's Disease ◽  
Uncommon Presentation ◽  
Systemic Symptoms ◽  
Adult Onset Still's Disease

Background: The cardinal signs and symptoms of adult-onset Still's disease (AOSD) include periodic fever, arthralgia and arthritis, lymphadenopathy, hepatosplenomegaly, an evanescent rash accompanied by neutrophilic granulocytosis, and a negative rheumatoid factor and antinuclear antibody test. Objective: To alert clinicians and dermatologists to internal diseases such as AOSD when assisting patients with urticarial eruptions and systemic symptoms. Methods: A case report of a 52-year-old white woman who received conventional therapy for urticaria for 3 years, with no improvement. Following this period, a diagnosis of AOSD was performed based on the presence of systemic symptoms. Results: The inflammatory activity markers decreased by the second month of methotrexate therapy; however, the cutaneous lesions failed to disappear. Thalidomide was initiated, and total improvement of the cutaneous lesions was observed after 2 weeks. Conclusion: Urticarial rash is an uncommon presentation of AOSD, and clinicians must be alert to the possibility of a misdiagnosis in these cases.

scholarly journals Successful Treatment with Intravenous Cyclophosphamide for Refractory Adult-Onset Still’s Disease

2015 ◽  
Vol 2015 ◽  
pp. 1-5
Author(s):  
Yoshika Tsuji ◽  
Nozomi Iwanaga ◽  
Anna Adachi ◽  
Kinuyo Tsunozaki ◽  
Yasumori Izumi ◽  
...  
Keyword(s):  
Macrophage Activation ◽  
Adult Onset Still’S Disease ◽  
High Dose ◽  
Adult Onset ◽  
Still’S Disease ◽  
Intravenous Cyclophosphamide ◽  
Still's Disease ◽  
Female Case ◽  
High Doses ◽  
Adult Onset Still's Disease

We report a 64-year-old female case of intractable adult-onset Still’s disease (AOSD). Initial high-dose steroid therapy combined with cyclosporin A was ineffective against macrophage-activation syndrome (MAS), which was accompanied by the systemic type of AOSD. Treatment for MAS with intravenous cyclophosphamide resulted in remission of AOSD and a reduction in the high doses of steroids. Efficacy of biologics against MAS in AOSD is unclear. Cyclophosphamide, a conventional cytotoxic agent, should be considered as one of the therapeutic options for refractory types of AOSD with MAS.

scholarly journals An Unusual Case of Adult-Onset Still’s Disease with Hemophagocytic Syndrome, Necrotic Leukoencephalopathy and Disseminated Intravascular Coagulation

2014 ◽  
Vol 2014 ◽  
pp. 1-7
Author(s):  
Rajaie Namas ◽  
Naveen Nannapaneni ◽  
Malini Venkatram ◽  
Gulcin Altinok ◽  
Miriam Levine ◽  
...  
Keyword(s):  
Hemophagocytic Syndrome ◽  
Adult Onset Still’S Disease ◽  
Normocytic Anemia ◽  
High Dose ◽  
African American Female ◽  
Adult Onset ◽  
Still’S Disease ◽  
Still's Disease ◽  
Elevated Liver Enzymes ◽  
Adult Onset Still's Disease

Case. A 34-year-old African-American female with a history of adult-onset Still’s disease presented to an outside hospital with oligoarthritis. She experienced a generalized tonic-clonic seizureen routevia ambulance, was intubated upon arrival, and transferred to the intensive care unit for treatment of suspected pneumonia and sepsis. She subsequently developed generalized cutaneous desquamation that progressed despite the cessation of antibiotics and other potential offending drugs which required transfer to our hospital’s burn unit. She was suspected to have reactive hemophagocytic syndrome based on her clinical presentation of fever, rash, polyarthritis, elevated liver enzymes, coagulopathy, splenomegaly, normocytic anemia, thrombocytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis visualized in bone marrow biopsy specimen. Magnetic resonance imaging demonstrated necrotic demyelination of the deep white matter and corona radiata. The patient developed multiorgan dysfunction and DIC without any other attributable etiology. Despite aggressive broad spectrum therapy and high dose of steroids she progressively deteriorated and eventually expired.Conclusion. Previous publications have highlighted the prevalence of necrotic leukoencephalopathy in children with familial hemophagocytic syndrome. Our patient demonstrated some uncommon features complicating her HLH including DIC and necrotic leukoencephalopathy, which are very rare entities in AOSD.

Association of Fcγ Receptor Polymorphisms with Adult Onset Still’s Disease in Korea

2009 ◽  
Vol 36 (2) ◽  
pp. 347-350 ◽  
Author(s):  
JIN-HYUN WOO ◽  
YOON-KYOUNG SUNG ◽  
JIN-SOOK LEE ◽  
WON TAE CHUNG ◽  
JUNG-YOON CHOE ◽  
...  
Keyword(s):  
Adult Onset Still’S Disease ◽  
High Dose ◽  
Disease Course ◽  
Adult Onset ◽  
Still’S Disease ◽  
Chi Square ◽  
Still's Disease ◽  
Specific Pcr ◽  
Chi Square Test ◽  
Adult Onset Still's Disease

Objective.Fcγreceptors (FcγR) have important functions in the regulation of immune response and clearance of immune complex. High levels of immunoglobulins have been observed in patients with the active stage of adult onset Still’s disease (AOSD), and high-dose intravenous immunoglobulin treatment has decreased the disease activity of AOSD. We investigated polymorphisms of FcγR as genetic factors influencing susceptibility or disease course of AOSD in Korea.Methods.We genotyped the FcγRIIA H/R131, IIIA F/V176, and IIIB NA1/NA2 loci in 98 patients with AOSD and 151 healthy controls. Genotyping was performed using sequence-specific PCR. Patients with AOSD were subdivided into groups according to disease course: monocyclic systemic, polycyclic systemic, or chronic articular type. Allelic, genotypic, and haplotypic associations were analyzed by chi-square test.Results.No significant skewing in any of the 3 FcγR polymorphisms was found between Korean AOSD patients and controls. FcγRIIA R/R131 and R/H131 genotype in patients with chronic articular-type disease was more frequent than in controls (p = 0.006 and pcorr = 0.018). No differences of genotypic and allelic frequencies were found between other disease course types and controls. Haplotype IIA R131-IIIA F176-IIIB NA2 was more frequent in AOSD patients than in controls (p = 0.021).Conclusion.Although FcγR polymorphisms are not associated with development of AOSD in Koreans, the haplotype IIA R131-IIIA F176-IIIB NA2 may be associated with AOSD. Also, the FcγRIIA polymorphism may be associated with chronic articular-type AOSD. We need to identify whether these polymorphisms are associated with a response to anti-tumor necrosis factor agents in patients with AOSD.

scholarly journals Efficacy of high-dose anakinra in refractory macrophage activation syndrome in adult-onset Still’s disease: when dosage matters in overcoming secondary therapy resistance

2020 ◽  
Vol 12 ◽  
pp. 1759720X2097485
Author(s):  
Sofia Ajeganova ◽  
Ann De Becker ◽  
Rik Schots
Keyword(s):  
Macrophage Activation Syndrome ◽  
Macrophage Activation ◽  
Adult Onset Still’S Disease ◽  
High Dose ◽  
Adult Onset ◽  
Still’S Disease ◽  
Standard Dosage ◽  
Still's Disease ◽  
Adult Onset Still's Disease ◽  
Activation Syndrome

Macrophage activation syndrome (MAS) is a severe, potentially fatal complication of rheumatic diseases. This case demonstrates the significant challenges and therapeutic considerations in adult-onset Still’s disease (AOSD) complicated with MAS at initial presentation, which will be discussed. MAS in our patient was refractory to the first-line therapy with high-dose corticosteroids, early administration of anakinra at a standard dosage and subsequent add-on treatments with cyclosporine A, IVIG, etoposides and tocilizumab. At 2 months after presentation, the patient was still critically ill with clinical, laboratory and histological signs of an active uncontrolled MAS. Notably, adoption of anakinra at a high dosage finally induced remission. This case confirms that adjusted dosage of anakinra is an effective therapeutic strategy in a severe AOSD-related MAS. It is tempting to speculate that anakinra at a high dosage, if used earlier, would have significantly changed the course of the disease in our patient and could have led to earlier remission.

scholarly journals Successful treatment of macrophage activation syndrome complicating adult-onset Still’s disease with tocilizumab: a case report

2017 ◽  
Vol 17 (2) ◽  
pp. 64-68
Author(s):  
Ho So ◽  
Tak-Lung Wong ◽  
Hin Ting Pang ◽  
Weng Nga Lao ◽  
Man-Lung Yip
Keyword(s):  
Macrophage Activation Syndrome ◽  
Macrophage Activation ◽  
Adult Onset Still’S Disease ◽  
High Dose ◽  
Adult Onset ◽  
Still’S Disease ◽  
Still's Disease ◽  
Initial Control ◽  
Adult Onset Still's Disease ◽  
Activation Syndrome

Abstract We report a case of 50-year-old female patient with adult-onset Still’s disease (AOSD) complicated by macrophage-activation syndrome (MAS). After initial control of the disease with high-dose parenteral corticosteroids, tocilizumab (TCZ) therapy aided in maintaining the remission with rapid tapering of steroid dose. TCZ may be useful for MAS complicating AOSD.

Adult Onset Still’s Disease with Neurological Involvement：A Single Center Report

Rheumatology ◽  
2020 ◽  
Author(s):  
Mengzhu Zhao ◽  
Di Wu ◽  
Min Shen
Keyword(s):  
Clinical Features ◽  
Aseptic Meningitis ◽  
Immunosuppressive Agents ◽  
Adult Onset Still’S Disease ◽  
Neurological Involvement ◽  
High Dose ◽  
Adult Onset ◽  
Still’S Disease ◽  
Still's Disease ◽  
Adult Onset Still's Disease

Abstract Objectives Adult onset Still’s disease (AOSD) is a multifactorial systemic autoinflammatory disease. Neurological damage has been scarcely reported in AOSD. We aimed to characterize the clinical features of AOSD patients with neurological involvement. Methods Totally, 187 AOSD patients were admitted to Peking Union Medical College Hospital from January 2015 to August 2019. The complete medical records were reviewed in this retrospective study. Clinical features of 14 AOSD patients with neurological involvement were collected and compared with those without. Results The prevalence of neurological involvement in AOSD inpatients was 7.5%. Median disease duration was 4.5 months with a range of 1 to 15 months. The frequent symptoms were fever (14, 100%), rash (13, 92.9%), liver dysfunction (11, 78.6%), arthralgia/arthritis (10, 71.4%), and lymphadenopathy (10, 71.4%). Four (28.6%) patients had macrophage activation syndrome (MAS). Aseptic meningitis was the most common presentation (64.3%) when the nervous system was involved. Other rare manifestations included cranial nerve palsy, encephalitis, and cerebral infarction. Rate of MAS, serum levels of lactate dehydrogenase and ferritin were significantly higher in AOSD patients with neurological involvement than in those without. All patients received high dose corticosteroid therapy and immunosuppressive agents, and two were given tocilizumab. Clinical remission was achieved in all of the 14 AOSD patients with neurological involvement. Conclusion Neurological involvement, particularly aseptic meningitis, is not a rare complication of AOSD. It is frequently complicated by MAS. There may be a potential relationship between neurological damages of AOSD and MAS.

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