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.