scholarly journals Adult-Onset Still's Disease in Focus: Clinical Manifestations, Diagnosis, Treatment, and Unmet Needs in the Era of Targeted Therapies

2021 ◽  
Author(s):  
Petros Efthimiou ◽  
Apostolos Kontzias ◽  
Peter Hur ◽  
Kavita Rodha ◽  
GS Ramakrishna ◽  
...  
Keyword(s):  
Targeted Therapies ◽  
Unmet Needs ◽  
Clinical Manifestations ◽  
Adult Onset Still’S Disease ◽  
Adult Onset ◽  
Still’S Disease ◽  
Still's Disease ◽  
Adult Onset Still's Disease

scholarly journals Pure Red Cell Aplasia with Adult Onset Still’s Disease

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Nicholas Robillard ◽  
Paul Van Nguyen ◽  
Robert Wistaff ◽  
Mikhael Laskine
Keyword(s):  
Clinical Manifestations ◽  
Pure Red Cell Aplasia ◽  
Adult Onset Still’S Disease ◽  
Red Cell ◽  
Adult Onset ◽  
Still’S Disease ◽  
Red Cell Aplasia ◽  
Still's Disease ◽  
Wide Range ◽  
Adult Onset Still's Disease

Adult Onset Still’s Disease (AOSD) is a rare inflammatory syndrome mostly seen in young adults. Known for its wide range of clinical manifestations, AOSD often presents with nonremitting systemic signs and symptoms. Many rare case associations have been described with AOSD, but only few with pure red cell aplasia (PRCA). We are presenting a fourth known case of a young female adult with AOSD and PRCA in the literature.

scholarly journals Pneumonitis in Adult Onset Still’s Disease: Uncommon or Under Diagnosed?

2017 ◽  
Vol 30 (7-8) ◽  
pp. 578 ◽  
Author(s):  
Silvia Fernandes ◽  
Margarida Almeida ◽  
José Alberto Pereira da Silva ◽  
José Carlos Romeu
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Clinical Manifestations ◽  
Adult Onset Still’S Disease ◽  
Severe Respiratory Failure ◽  
Adult Onset ◽  
Still’S Disease ◽  
Still's Disease ◽  
Pulmonary Parenchyma ◽  
Adult Onset Still's Disease

The adult onset Still’s Disease is an uncommon entity characterized by multiple clinical manifestations. Pneumonitis, less often considered, deserves particular emphasis given the need for differential diagnosis and because it can progress to severe respiratory failure. With the aim to highlight the pulmonary parenchyma involvement in patients with adult onset Still’s Disease, we present a case report which progresses with pneumonitis.

scholarly journals The Association of ATG16L1 Variations with Clinical Phenotypes of Adult-Onset Still’s Disease

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 904
Author(s):  
Wei-Ting Hung ◽  
Shuen-Iu Hung ◽  
Yi-Ming Chen ◽  
Chia-Wei Hsieh ◽  
Hsin-Hua Chen ◽  
...  
Keyword(s):  
Skin Rash ◽  
Direct Sequencing ◽  
Differentially Expressed Gene ◽  
Clinical Manifestations ◽  
Adult Onset Still’S Disease ◽  
Adult Onset ◽  
Still’S Disease ◽  
Autophagosome Formation ◽  
Still's Disease ◽  
Adult Onset Still's Disease

Adult-onset Still’s disease (AOSD) is a rare autoinflammatory disease, which has elevated autophagosome levels regulated by autophagy-related gene (ATG) expression. We investigated the associations of ATG polymorphisms with AOSD susceptibility, clinical manifestations, and disease course. The six-candidate single-nucleotide polymorphisms (SNPs) involved in autophagy were genotyped using direct sequencing on samples from 129 AOSD patients and 129 healthy participants. The differentially expressed gene products were quantified using PCR and ELISA. Significant linkage disequilibrium was noted in three SNPs of autophagy-related 16-like 1 (ATG16L1) gene (rs10210302, rs2241880, and rs1045100). Although the AA/CC/TT haplotype of ATG16L1 was not associated with the susceptibility of our AOSD patients compared with other haplotypes, those carrying this haplotype had lower mRNA expression levels of LC3-II, reflecting by autophagosome formation (p = 0.026). Patients carrying AA/CC/TT haplotype also have a significantly higher proportion of skin rash and a lower proportion of arthritis compared with other haplotypes. The AA/CC/TT haplotype was significantly associated with systemic pattern (odds ratio, 3.25; 95% confidence interval, 1.15–9.14; p = 0.026). In summary, the AA/CC/TT haplotype encoded lower levels of autophagosome formation and was associated with a higher proportion of skin rash and systemic pattern of AOSD compared with other haplotypes.

scholarly journals Diagnostic Challenge: A Report of Two Adult-Onset Still’s Disease Cases

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Sakunee Niranvichaiya ◽  
Daranporn Triwongwaranat
Keyword(s):  
Rheumatoid Factor ◽  
Clinical Manifestations ◽  
Maculopapular Rash ◽  
Adult Onset Still’S Disease ◽  
Adult Onset ◽  
Still’S Disease ◽  
Positive Rheumatoid Factor ◽  
Salmon Pink ◽  
Still's Disease ◽  
Adult Onset Still's Disease

This study reports two adult-onset Still’s disease (AOSD) cases that met both Yamaguchi’s and Fautrel’s criteria and that presented with notable clinical manifestations. One case presented with atypical dermographism-like rash with an extremely high ferritin level. The other case presented with typical salmon-pink maculopapular rash but had atypical positive rheumatoid factor. This suggests that although negative rheumatoid factor is one of the criteria used for the diagnosis of AOSD, a positive rheumatoid factor result does not exclude AOSD. Beside a classic rash, characterized by transient salmon-pink maculopapular rash, we also find atypical dermographism-like rash. These findings remind us that there exist various types of rash from AOSD.

scholarly journals A rare clinical presentation: Adult-onset Still’s disease

2020 ◽  
Vol 9 (1) ◽  
pp. 56-59
Author(s):  
Prakash Banjade ◽  
Prakash Poudel Jaishi ◽  
Jonas Malla
Keyword(s):  
Clinical Manifestations ◽  
Differential Diagnoses ◽  
Treatment Modalities ◽  
Adult Onset Still’S Disease ◽  
Unknown Etiology ◽  
Inflammatory Disorder ◽  
Adult Onset ◽  
Still’S Disease ◽  
Still's Disease ◽  
Adult Onset Still's Disease

Adult -onset Still’s disease (AOSD) is a rare, idiopathic, inflammatory disorder of unknown etiology and pathogenesis that presents in 5 to 10% of patients as fever of unknown origin (FUO )exclusion characterized by generalized migratory joint ache, blanchable rash, fever and other systemic manifestations. We report an interesting case of a 23 year old Nepalese lady from Okhaldunga who presented with one-month duration of FUO along with sore throat, fever, vomiting, generalized joint ache, erythematous blanchable rash, headache and visual impairment. On examination there was hepatomegaly and investigations showed raised liver enzymes, serum ferritin and fibrinogen.After extensive workup, potential differential diagnoses were ruled out She was diagnosed to have Adult -onset Still’s disease based on Yamuguchi criteria after exclusion of other potential differentials.The patient partially responded to prednisolone and later methotrexate was prescribed which improved her symptoms. The case history, incidence, pathogenesis, clinical manifestations, differential diagnoses, diagnostic workup, treatment modalities, and prognosis of AOSD are discussed in this case report.

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