NextGen 2024: Refractory SJIA & MAS Session Part 7

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Key Insights

Focus on next-generation therapies for Systemic Juvenile Idiopathic Arthritis (SJIA), Still's disease, and Macrophage Activation Syndrome (MAS).
Case studies of two pediatric patients: one with ATS presenting with Still's onset and MAS and another with JMA also presenting with Still's onset.
Treatment approaches including antiviral prophylaxis, antibacterial prophylaxis, IV MP pulses, and various medications like Anakinra, Tocilizumab, Tacrolimus, and Baricitinib are employed.
Patient monitoring involves tracking markers like WBC, ESR, CRP, ferritin, and LFT, with NGS panel for AID (Heterozygous DNASE2 c.995C>A VUS and PSMB8 c.-5C>T VUS) and PID performed.

#stillsdisease #sjiafoundation #macrophageactivation #sjia #curesjia

NextGen 2024: Refractory SJIA & MAS Session Part 7

@SJIA_Foundation3 months ago

Refractory disease (Still's +/- MAS)

Pediatric Rheumatologist

Attending physician at Pediatric Rheumatology section in Sant Joan de DÃ©u Children's Hospital

Â· ATS, 11 yr, â , 33 kg, latino origin
Â· Cholinergic urticaria and atopic dermatitis
Â· Typical Still onset - MAS (Fever, arthralgia, sore throat, rash)
Â· â WBC, ESR, CRP, ferritin, LFT, S100A8/A9, IL18 and triglycerids, â PLT, fibrinogen. HLA-DRB1*15
Â· NGS panel for AID (Heterozygous DNASE2 c.995C>A VUS and PSMB8 c.-5C>T VUS) and PID performed
Â· HRCT negative
Â· Antiviral and antibacterial prophylaxis

Â· JMA, â , 13 yr, 45 kg, Philippine origin. Any relevant past history
Â· Typical Still disease onset (fever, sore throat, myalgia, rash, serositis, w/o arthritis)
Â· â WBC, ESR, CRP, ferritin, LFT, S100A8/A9, IL18 and ð¡ª PLT, fibrinogen, triglycerids. HLA-DRB1*15
Â· HRCT negative
Â· DRESS like reaction (26/05/24) ð¡ª Rash and â LFT