Haemophagocytic lymphohistiocytosis: an uncommon presentation in systemic lupus erythematosus and acute leukaemia
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. Whil...
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SMC MEDIA SRL
2025-07-01
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| Series: | European Journal of Case Reports in Internal Medicine |
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| Online Access: | https://www.ejcrim.com/index.php/EJCRIM/article/view/5555 |
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| author | Nada Msabri Gharbi Alex Smithson He Zhang Lin Mario Mandis Diana Carolina Quiroga Parada Oriana Guevara Vasquez Gloria De la Red Bellvis |
| author_facet | Nada Msabri Gharbi Alex Smithson He Zhang Lin Mario Mandis Diana Carolina Quiroga Parada Oriana Guevara Vasquez Gloria De la Red Bellvis |
| author_sort | Nada Msabri Gharbi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-d1898ecb55dd4f1a8c86196dfd3d95b9 |
| institution | DOAJ |
| issn | 2284-2594 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | SMC MEDIA SRL |
| record_format | Article |
| series | European Journal of Case Reports in Internal Medicine |
| spelling | doaj-art-d1898ecb55dd4f1a8c86196dfd3d95b92025-08-20T02:56:43ZengSMC MEDIA SRLEuropean Journal of Case Reports in Internal Medicine2284-25942025-07-0110.12890/2025_0055555090Haemophagocytic lymphohistiocytosis: an uncommon presentation in systemic lupus erythematosus and acute leukaemiaNada Msabri Gharbi0Alex Smithson1He Zhang Lin2Mario Mandis3Diana Carolina Quiroga Parada4Oriana Guevara Vasquez5Gloria De la Red Bellvis6Department of Rheumatology, University Hospital Zurich, Zurich, SwitzerlandEmergency Department, Fundació Hospital de l’Esperit Sant, Santa Coloma de Gramenet, SpainDepartment of Internal Medicine, Fundació Hospital de l’Esperit Sant, Santa Coloma de Gramenet, SpainDepartment of Internal Medicine, Fundació Hospital de l’Esperit Sant, Santa Coloma de Gramenet, SpainDepartment of Internal Medicine, Fundació Hospital de l’Esperit Sant, Santa Coloma de Gramenet, SpainDepartment of Internal Medicine, Fundació Hospital de l’Esperit Sant, Santa Coloma de Gramenet, SpainDepartment of Internal Medicine, Fundació Hospital de l’Esperit Sant, Santa Coloma de Gramenet, SpainIntroduction: 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.https://www.ejcrim.com/index.php/EJCRIM/article/view/5555haemophagocytic lymphohistiocytosissystemic lupus erythematosusacute monoblastic leukaemiamacrophage activation syndromehyperferritinaemia |
| spellingShingle | Nada Msabri Gharbi Alex Smithson He Zhang Lin Mario Mandis Diana Carolina Quiroga Parada Oriana Guevara Vasquez Gloria De la Red Bellvis Haemophagocytic lymphohistiocytosis: an uncommon presentation in systemic lupus erythematosus and acute leukaemia European Journal of Case Reports in Internal Medicine haemophagocytic lymphohistiocytosis systemic lupus erythematosus acute monoblastic leukaemia macrophage activation syndrome hyperferritinaemia |
| title | Haemophagocytic lymphohistiocytosis: an uncommon presentation in systemic lupus erythematosus and acute leukaemia |
| title_full | Haemophagocytic lymphohistiocytosis: an uncommon presentation in systemic lupus erythematosus and acute leukaemia |
| title_fullStr | Haemophagocytic lymphohistiocytosis: an uncommon presentation in systemic lupus erythematosus and acute leukaemia |
| title_full_unstemmed | Haemophagocytic lymphohistiocytosis: an uncommon presentation in systemic lupus erythematosus and acute leukaemia |
| title_short | Haemophagocytic lymphohistiocytosis: an uncommon presentation in systemic lupus erythematosus and acute leukaemia |
| title_sort | haemophagocytic lymphohistiocytosis an uncommon presentation in systemic lupus erythematosus and acute leukaemia |
| topic | haemophagocytic lymphohistiocytosis systemic lupus erythematosus acute monoblastic leukaemia macrophage activation syndrome hyperferritinaemia |
| url | https://www.ejcrim.com/index.php/EJCRIM/article/view/5555 |
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