Gharbi Nada Msabri, Smithson Alex, Lin He Zhang, Mandis Mario, Parada Diana Carolina Quiroga, Vasquez Oriana Guevara, De la Red Bellvis Gloria
Department of Rheumatology, University Hospital Zurich, Zurich, Switzerland.
Emergency Department, Fundació Hospital de l'Esperit Sant, Santa Coloma de Gramenet, Spain.
Eur J Case Rep Intern Med. 2025 Jul 9;12(8):005555. doi: 10.12890/2025_005555. eCollection 2025.
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.
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 infection.
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.
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.
Haemophagocytic lymphohistiocytosis (HLH) should be suspected in patients with persistent fever, cytopaenia, organomegaly and markedly elevated ferritin, particularly in the context of autoimmune diseases or haematologic malignancies.Early therapeutic intervention significantly improves prognosis in autoimmune-associated HLH, where corticosteroid therapy is often effective, while malignancy-driven HLH typically carries poorer outcomes despite aggressive treatment.A multidisciplinary approach is essential for HLH management, with treatment strategies tailored to the underlying cause rather than following a uniform protocol.
噬血细胞性淋巴组织细胞增生症（HLH）是一种罕见且可能危及生命的高炎症综合征，其特征为细胞毒性T淋巴细胞、自然杀伤细胞和巨噬细胞的失控激活，导致细胞因子风暴及随后的多器官损伤。虽然HLH主要影响儿童群体，但在成年患者中也越来越多地被认识到，常与恶性肿瘤、感染或自身免疫性疾病相关。
我们展示了两例不同的成年HLH病例。病例1为一名21岁新诊断为系统性红斑狼疮（SLE）的女性，她发生了与巨噬细胞活化综合征（MAS）相关的HLH。她表现为长期发热、多关节痛、颧部皮疹、肝脾肿大、双血细胞减少、纤维蛋白原血症、高甘油三酯血症和血清铁蛋白水平升高。病例2描述了一名44岁患有急性单核细胞白血病（AML-M5）和与恶性肿瘤相关的HLH的女性，她表现为发热、不适、肝脾肿大、纤维蛋白原血症、高甘油三酯血症和高铁蛋白血症。最初取得了血液学反应；然而，疾病进展最终导致因感染引起的中性粒细胞减少性全结肠炎继发致命的多器官衰竭。
这两个病例说明了HLH在演变、管理和结局方面的关键临床和病理生理差异，这取决于潜在病因。虽然两者都符合HLH-2024诊断标准，但它们对治疗的反应和结局明显不同。
这些病例强调了对于长期发热、血细胞减少、器官肿大和高铁蛋白血症患者怀疑HLH的必要性。早期治疗可改善预后，特别是在自身免疫性HLH中，类固醇有效，而与恶性肿瘤相关的HLH往往预后较差。
对于持续发热、血细胞减少、器官肿大和铁蛋白明显升高的患者，应怀疑噬血细胞性淋巴组织细胞增生症（HLH），特别是在自身免疫性疾病或血液系统恶性肿瘤的背景下。早期治疗干预显著改善自身免疫相关HLH的预后，皮质类固醇治疗通常有效，而恶性肿瘤驱动的HLH尽管积极治疗通常预后较差。多学科方法对于HLH管理至关重要，治疗策略应根据潜在病因量身定制，而不是遵循统一方案。
