Hematopoietic stem cell transplantation in an adult patient with primary hemophagocytic lymphohistiocytosis

Vollständiger Abstract

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Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory condition characterized by uncontrolled immune activation and excessive production of pro-inflammatory cytokines, which may rapidly progress to multiorgan failure. Despite efforts to simplify the diagnosis and treatment of this entity, it remains a major challenge in clinical practice, especially in adults. We report a case of suspected primary HLH in an adult patient with a prolonged history of recurrent inflammatory episodes and a fulminant presentation requiring intensive care support. Despite the absence of identifiable genetic mutations, the clinical course was highly suggestive of an underlying primary immune dysregulation. The patient achieved remission with HLH-2004–based therapy and subsequently underwent haploidentical hematopoietic stem cell transplantation (HSCT) due to high risk of recurrence. Seven months after transplantation, she remains in complete remission with full donor chimerism and only mild chronic graft-versus-host disease. This case highlights the diagnostic complexity of adult HLH, the limitations of genetic testing, and supports early consideration of HSCT in selected high-risk patients.