Adult-Onset Still’s Disease: Still a Serious Health Problem (a Case Report and Literature Review)

Abstract

Patient: Female, 53Final Diagnosis: Adult-onset Still’s DiseaseSymptoms: Abdominal pain • feverMedication: —Clinical Procedure: —Specialty: RheumatologyObjective:Rare diseaseBackground:Adult-onset Still’s Disease (AOSD) is a rare systemic inflammatory disease accompanied by a triad of spiking fever, maculopapular exanthema, and arthralgia. To date, there is no definite laboratory or imaging test available for diagnosing AOSD, and the diagnosis is one of exclusion, which can be very challenging.Case Report:We report on the case of a 53-year-old female who presented with fever, arthralgia, and abdominal pain. Her initial laboratory tests showed elevated AST and ALT, and normal leukocytes with bandemia. During her hospitalization, we evaluated the patient for other potential differential diagnoses. After an extensive workup, the patient was diagnosed with AOSD based on Yamaguchi criteria. Her serum ferritin levels were measured and found to be markedly elevated, which is a non-specific finding in AOSD patients.Conclusions:This case highlights the important role of a detailed history and physical examination for timely diagnosis of AOSD to prevent complications and improve patient’s prognosis.

Genetic Association and Expression Correlation between Colony-Stimulating Factor 1 Gene Encoding M-CSF and Adult-Onset Still’s Disease

“…Particularly, our GWAS first demonstrates that SNP rs11102024 on 5′-upstream of CSF1 reached genomewide significance, and the subsequently replication study confirmed the strong genetic association with AOSD. We further identified 11 SNPs having strong LD with rs11102024 (r 2 > 0: 7), and most of them show regulatory potential [45]. As the associated SNP rs11102024 is only 22 kb upstream of CSF1 and the nearby LD variants show regulatory potential, we propose that these SNPs may upregulate the expression levels of M-CSF, resulting in the disease of AOSD.…”

“…The clinical features and disease progression of AOSD vary considerably. In severe cases, AOSD may lend to permanent joint destruction, organomegaly, lymphadenopathy, serositis, and aseptic meningitis [5][6][7]. Due to its characteristics and predominate dysregulation of innate immunity, AOSD has been considered an autoinflammatory disease [8,9].…”

Adult Onset Still’s Disease - a rare diagnosis of undetermined febrile syndrome

“…Other signs and symptoms, such as myalgias, weight loss, lymphadenopathy, hepatosplenomegaly, pleuritis, myocarditis, and pericarditis are also described. [2][3][4] Laboratory findings in adult Still's disease are non-specific. Those findings consist of elevated inflammatory parameters, namely C-reactive protein and erythrocyte sedimentation rate, as well as neutrophilic leukocytosis.…”

“…Some studies suggest the use of this parameter as a marker of disease activity. 2,3 If present, typical image findings on CT scan and joints X-ray are hepatosplenomegaly and erosions in the affected joints. However, these abnormal findings are rare.…”

“…However, these abnormal findings are rare. 3 There are numerous classification criteria. The most commonly accepted are the Yamaguchi criteria (table 2) with a sensitivity of 93.5%.…”