Case Presentation: A 25-year-old woman with autism, developmental delay, and seizure disorder presented with weakness, joint pain, and lethargy. Initial findings included pancytopenia, elevated inflammatory markers, and hyperferritinemia. She was diagnosed with hemophagocytic lymphohistiocytosis (HLH) secondary to adult-onset Still’s disease. Despite treatment with corticosteroids, anakinra, and tocilizumab, her condition worsened, necessitating ICU admission.
Discussion: HLH and macrophage activation syndrome (MAS) are hyperinflammatory disorders characterized by immune dysregulation. While conventional treatments focus on immune suppression, some cases, like this one, prove refractory. Ruxolitinib, a JAK inhibitor, emerged as a promising alternative by targeting cytokine overproduction. In this case, ruxolitinib significantly improved the patient’s clinical status, marking it as a potential therapy for refractory HLH/MAS.
Conclusions: The successful use of ruxolitinib in this patient underscores its therapeutic potential in managing refractory HLH. More research is required to define optimal dosing and timing, but ruxolitinib offers hope for improving outcomes in such life-threatening cases.
