Haemophagocytic lymphohistiocytosis: an uncommon presentation in systemic lupus erythematosus and acute leukaemia

Authors

• Nada Msabri Gharbi Department of Rheumatology, University Hospital Zurich, Zurich, Switzerland
• Alex Smithson Emergency Department, Fundació Hospital de l’Esperit Sant, Santa Coloma de Gramenet, Spain
• He Zhang Lin Department of Internal Medicine, Fundació Hospital de l’Esperit Sant, Santa Coloma de Gramenet, Spain
• Mario Mandis Department of Internal Medicine, Fundació Hospital de l’Esperit Sant, Santa Coloma de Gramenet, Spain
• Diana Carolina Quiroga Parada Department of Internal Medicine, Fundació Hospital de l’Esperit Sant, Santa Coloma de Gramenet, Spain
• Oriana Guevara Vasquez Department of Internal Medicine, Fundació Hospital de l’Esperit Sant, Santa Coloma de Gramenet, Spain
• Gloria De la Red Bellvis Department of Internal Medicine, Fundació Hospital de l’Esperit Sant, Santa Coloma de Gramenet, Spain

nadamsabri@gmail.com

Keywords

Abstract

Introduction: Haemophagocytic lymphohistiocytosis (HLH) is a rare and potentially life-threatening hyperinflammatory syndrome, characterised by uncontrolled activation of cytotoxic T lymphocytes, natural killer cells and macrophages, leading to a cytokine storm and subsequent multiorgan damage. While HLH predominantly affects paediatric populations, it is increasingly recognised in adult patients, often occurring in association with malignancies, infections or autoimmune diseases.
Case description: We present two distinct adult cases of HLH. Case 1 involves a 21-year-old woman with newly diagnosed systemic lupus erythematosus (SLE), who developed macrophage activation syndrome (MAS)-associated HLH. She presented with prolonged fever, polyarthralgia, malar rash, hepatosplenomegaly, bicytopenia, hypofibrinogenaemia, hypertriglyceridaemia and elevated serum ferritin levels. Case 2 describes a 44-year-old woman with acute monoblastic leukaemia (AML-M5) and malignancy-associated HLH, who presented with fever, malaise, hepatosplenomegaly, hypofibrinogenaemia, hypertriglyceridaemia and hyperferritinaemia. An initial haematological response was achieved; however, disease progression ultimately led to fatal multiorgan failure secondary to neutropenic pancolitis caused by Clostridioides difficile infection.
Discussion: Both cases illustrate key clinical and pathophysiological differences in the evolution, management and outcomes of HLH, depending on the underlying cause. While both fulfilled the HLH-2024 diagnostic criteria, they exhibited markedly different responses to therapy and outcomes.
Conclusion: These cases highlight the need to suspect HLH in patients with prolonged fever, cytopaenia, organomegaly and high ferritin. Early treatment improves prognosis, especially in autoimmune HLH, where steroids are effective, while malignancy-related HLH often has poorer outcomes.

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