1 - Área de Pediatria Médica, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa
2 - Serviço de Pediatria, Hospital de Vila Franca de Xira
3 - Unidade de Reumatologia Pediátrica, Hospital De Dona Estefânia - Centro Hospitalar Universitário de Lisboa Central, Lisboa
- 28th European Paediatric Rheumatology Congress, PReS2022, Praga, Setembro 2022. Publicação sob a forma de poster com apresentação
Introduction: Systemic Juvenile Idiopathic Arthritis (sJIA), mediated by autoinflammatory cytokines, is an unique form and the most severe one of Juvenile Idiopathic Arthritis. Its diagnosis is usually challenging and a high index of suspicion is needed. Macrophage activation syndrome (MAS) is a known potentially fatal complication of sJIA which needs prompt treatment.
Objectives: To describe a case of severe SJIA complicated with MAS and to explore therapeutic options
Methods: An 11 year-old african male child, brought to the emergency room of a second level portuguese hospital, for a 1 month daily fever, anorexia, fatigue and joint pain with 8-Kg weight loss. The patient also reported feeling illness, with i ntermittent low-grade fever and an evanescent erythematous exanthem in the previous six months, already evaluated in a medical appointment. Upon observation, the patient appeared fatigued, febrile with an evanescent exanthema (face and trunk), hepatomegaly and bilateral arthritis of small joints of the hands and feet, wrists and ankles. Blood tests revealed microcytic hypochromic anemia (Hb 9.4 g/dL) with leukocytosis, neutrophilia, thrombocytosis, hypoalbuminemia, with elevated C-Reactive protein (15 mg/dL), erythrocyte sedimentation rate (VS 113 mm/h), fibrinogen and ferritin (1703 ng/mL). Cardiac evaluation was normal. Infectious, neoplasic and others auto-immune diseases were excluded.
Results: Ceftriaxone and ibuprofen were started. Progressive worsening in the next 24 hours with unremitting fever and prostration. Blood tests revealed a slight decrease of hemoglobin and increase in ferritin levels (15.637 ng/mL) and soluble CD 25. Concerning of installation of MAS, bolus of methylprednisolone was initiated. Treatment was maintained with prednisolone (PRD) and methotrexate (anti-IL1 was not authorized for the hospital administration) with improvement of systemic manifestations but refractory arthritis. Six months later, still in PRD, he was referred to a central hospital and interleukin-6 (IL-6) inhibitor was started with good disease control, allowing complete weaning of PRD 6 months later.
Conclusion: Diagnosis of sJIA may be rather difficult with unspecific manifestations, as reported in this case with several months of disease evolution and a severe presentation on admission. Even though not fulfilling the 2016 criteria of MAS in sJIA, the clinical deterioration with extreme hyperferritinemia (>10,000ng/mL), strongly suggested rapidly evolving MAS. Prompt and life-saving treatment prevented the child of a high morbi-mortality risk. Nonethless, in sJIA the precocious treatment with anti-IL1/6 is usually related to better prognosis.