Alharbi Lujain K, Ahmed Alaa K
Department of Rheumatology, King Salman Medical City, Madinah, Saudi Arabia.
Eur J Case Rep Intern Med. 2025 Apr 14;12(5):005336. doi: 10.12890/2025_005336. eCollection 2025.
Haemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal hyperinflammatory syndrome with multi-organ involvement. It may occur secondary to autoimmune diseases such as systemic lupus erythematosus (SLE).
This report describes an unusual case of a previously healthy 29-year-old female medical student who presented with a one-month history of recurrent fever, fatigue and significant weight loss. Initial laboratory investigations revealed pancytopaenia, hyperferritinaemia and hypertriglyceridaemia. Infectious disease workup was negative. Serological testing demonstrated positive antinuclear antibody and anti-double-stranded DNA antibodies, while bone marrow biopsy confirmed haemophagocytosis. The patient was diagnosed with secondary HLH due to SLE. During treatment in the intensive care unit, the patient developed psychosis manifested by visual hallucinations and mood swings. A diagnosis of neuropsychiatric SLE was confirmed by exclusion of other causes (e.g. steroid therapy) and the presence of non-specific white matter hyperintensities on brain magnetic resonance imaging. Combination therapy with high-dose corticosteroids, intravenous immunoglobulin and rituximab resulted in significant clinical and laboratory improvements within two weeks.
This case illustrates how HLH can be the initial manifestation of previously undiagnosed SLE. Hence, clinicians should maintain a high index of suspicion for underlying autoimmune disorders such as SLE when evaluating patients with HLH, as early recognition and appropriate immunosuppressive therapy are crucial for optimal outcomes.
Clinicians should suspect haemophagocytic lymphohistiocytosis in patients with persistent fever and cytopaenias, especially when laboratory findings (e.g. hyperferritinaemia, hypertriglyceridaemia) do not improve with standard treatments.Systemic lupus erythematosus may initially present as secondary haemophagocytic lymphohistiocytosis. Integration of clinical, radiological and immunological data can aid in early differentiation.
噬血细胞性淋巴组织细胞增生症（HLH）是一种罕见但可能致命的多器官受累的高炎症综合征。它可能继发于自身免疫性疾病，如系统性红斑狼疮（SLE）。
本报告描述了一例不寻常的病例，一名29岁既往健康的女医学生，有1个月反复发热、疲劳和显著体重减轻的病史。初始实验室检查显示全血细胞减少、高铁蛋白血症和高甘油三酯血症。传染病检查结果为阴性。血清学检测显示抗核抗体和抗双链DNA抗体阳性，而骨髓活检证实有噬血细胞现象。该患者被诊断为继发于SLE的HLH。在重症监护病房治疗期间，患者出现以视幻觉和情绪波动为表现的精神病。通过排除其他原因（如类固醇治疗）以及脑磁共振成像上存在非特异性白质高信号，确诊为神经精神性SLE。大剂量皮质类固醇、静脉注射免疫球蛋白和利妥昔单抗联合治疗在两周内使临床和实验室指标有显著改善。
本病例说明了HLH如何可能是先前未诊断的SLE的初始表现。因此，临床医生在评估HLH患者时，应高度怀疑潜在的自身免疫性疾病，如SLE，因为早期识别和适当的免疫抑制治疗对于取得最佳结果至关重要。
临床医生应怀疑持续性发热和血细胞减少的患者患有噬血细胞性淋巴组织细胞增生症，特别是当实验室检查结果（如高铁蛋白血症、高甘油三酯血症）经标准治疗后无改善时。系统性红斑狼疮最初可能表现为继发性噬血细胞性淋巴组织细胞增生症。整合临床、放射学和免疫学数据有助于早期鉴别。
