RESULTS
Patients in this case series were more likely to be female, white, and non-Hispanic. The average age of presentation for sJIA-LD was 4.6 years, approximately 1.5 years after initial presentation for sJIA. No significant family history was identified (Table 1). Clinical presentation and treatment exposure before and after diagnosis of sJIA-LD are summarized in Table 2. On initial presentation, the majority (n=8, 89%) of patients had active sJIA disease, and almost half (n=4, 44%) had a diagnosis of macrophage activation syndrome (MAS).
Prior to sJIA-LD diagnosis, all patients had received treatment with high-dose steroids, NSAIDs, and anakinra at various times. Cyclosporine and tocilizumab, an IL-6 inhibitor, had been used in 5 patients (56%). Many patients had previously received intravenous immunoglobulin (IVIG) for suspected Kawasaki or incomplete Kawasaki disease prior to diagnosis of SJIA (n=5; 56%). Adverse effects were common and included weight gain and Cushingoid appearance secondary to steroid exposure (n=6), transaminitis secondary to anakinra and methotrexate (n=3), hirsutism secondary to cyclosporine (n=2), and suspected DRESS syndrome secondary to tocilizumab (n=1).
The most common respiratory symptoms around time of sJIA-LD diagnosis were cough (n=6, 67%) and clubbing (n=5, 56%). Due to age and ability, only two patients completed pulmonary function testing; one was found to have decreased FVC and FEV1 consistent with a restrictive pattern, while the second showed only mild decrease in DLCO. Of those unable to complete pulmonary function testing, four patients completed a 6-minute walk test, with results less than expected for age. The remaining participants were unable to complete this evaluation due to physical limitations or developmental ability.
Following sJIA-LD diagnosis, most common rheumatologic treatments included high dose steroids, tofacitinib, and tocilizumab. Iatrogenic adverse reactions were prevalent, with six patients developing exogenous Cushing syndrome, including one progressing to osteoporosis with vertebral compression deformities and cataracts. Additional common pulmonary treatment included inhaled corticosteroids and prophylactic antibiotics for Pneumocystis jiroveci in those with significant immunosuppression.