Sustained hyperferritinemia in a child with macrophage activation syndrome secondary to systemic juvenile idiopathic arthritis - perforinopathy: case based review

Özet

Systemic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritisand characterized by arthritis and many systemic features like fever, rash,hepatosplenomegaly, lymphadenopathy and serositis. Macrophage activationsyndrome is the most dreadful complication of systemic juvenile idiopathicarthritis and can cause mortality and morbidity if not recognized and treatedearly and aggressively.Hemophagocytic lymphohistiocytosis (HLH) is characterized by diminished orabsent activities of natural killer cells and cytotoxic T lymphocytes leadingto cytokine storm and uncontrolled activation of T cells and macrophages.Primary (familial) HLH is a group of autosomal recessive disorders causedby mutations in the perforin and other related genes and distinctive foronset during early infancy and high rate of mortality. Secondary HLH maybe caused by infectious, oncologic and rheumatologic disorders. The termPerforinopathy is used to describe cases with classical familial HLH and alsofor cases with familial HLH gene mutations but not following a classicalfamilial HLH course.Herein we report a case of chronic perforinopathy in which clinical symptomsstarted with systemic juvenile idiopathic arthritis and severe macrophageactivation syndrome that needed plasma exchange and extracorporeal membraneoxygenation during acute period and ongoing interleukin-1 blockage forsustained hyperferritinemia.