Diagnostic pitfalls in systemic juvenile idiopathic arthritis: insights from 6 misdiagnosed cases.
This retrospective six-patient case series reports that children initially classified as having systemic juvenile idiopathic arthritis were later diagnosed with autoinflammatory disorders, Takayasu arteritis, inflammatory myofibroblastic tumor, or suspected congenital hemophagocytic lymphohistiocytosis after a median diagnostic delay of 9.5 months.
Open original publication →What the AI sees
This retrospective six-patient case series reports that children initially classified as having systemic juvenile idiopathic arthritis were later diagnosed with autoinflammatory disorders, Takayasu arteritis, inflammatory myofibroblastic tumor, or suspected congenital hemophagocytic lymphohistiocytosis after a median diagnostic delay of 9.5 months.
Research significance
The evidence supports repeated diagnostic reassessment in atypical or apparently refractory sJIA; it is reasonable but unproven to infer that earlier recognition of mimicking malignancies and inflammatory disorders could reduce inappropriate treatment and enable disease-specific therapy.
Source abstract
OBJECTIVE: Systemic juvenile idiopathic arthritis (sJIA) is a diagnosis of exclusion with nonspecific early manifestations. Misdiagnosis is common due to overlap with infections, autoinflammatory diseases, and malignancies. We aimed to characterize a series of patients initially diagnosed with sJIA who subsequently reclassified following further evaluation were. METHODS: We retrospectively reviewed the clinical records, laboratory findings, genetic analyses, and imaging data of six pediatric patients initially diagnosed with sJIA but later revised to alternative diagnosis after further investigations. These patients were enrolled at Shenzhen Children's Hospital between January 2011 and December 2022. RESULTS: All six patients initially fulfilled at least one set of sJIA classification criteria. All patients presented with recurrent fever (100%, 6/6), three had arthritis (50%, 3/6), and five exhibited rash (83.3%, 5/6). Elevated inflammatory markers were observed in all patients (100%, 6/6). The median age at initial sJIA diagnosis was 64 months (IQR, 24-145). The median delay from initial diagnosis to final diagnosis was 9.5 months (IQR, 5-12). Three patients (50%, 3/6) were considered to have refractory sJIA prior to diagnostic revision. Final diagnoses included autoinflammatory diseases (n = 3), Takayasu arteritis (n = 1), inflammatory myofibroblastic tumor (n = 1), and suspected congenital hemophagocytic lymphohistiocytosis (n = 1). CONCLUSIONS: sJIA is defined by classification criteria and represents a diagnosis of exclusion, requiring long-term dynamic reassessment to distinguish it from other diseases with overlapping clinical features. Early recognition of atypical manifestations and timely comprehensive evaluation are essential to avoid misdiagnosis, particularly in distinguishing monogenic autoinflammatory disorders and malignancies.