Bishwakarma Kanchan, Bishwakarma Kajal, Bogati Sunil, Jha Saket
College of Medicine Nepalese Army Institute of Health Sciences Sanobharyang Kathmandu Nepal.
Institute of Medicine Tribhuvan University Maharajgunj Kathmandu Nepal.
Clin Case Rep. 2025 Jan 12;13(1):e70128. doi: 10.1002/ccr3.70128. eCollection 2025 Jan.
Hemophagocytic lymphohistiocytosis (HLH), is a fatal systemic hyperinflammatory syndrome. HLH may be due to immunosuppression, infections, cancer, or autoimmune diseases with fever and cytopenia. HLH which occurs in adult-onset Stills disease (AOSD) is called secondary HLH, also known as macrophage activation syndrome (MAS). Here, we present a case of a 36-year-old Nepalese female, with no known comorbidities presented with a history of fever, sore throat, multiple joint pain, fluctuating rash, hair loss, and unintentional weight loss for a month. She was hypotensive, with a high-grade fever. She had swollen eyelids, and erythematous macular rashes in the face, trunk, and extremities with the rest of the systemic examinations normal. Investigation showed leukocytosis, with anemia, and a blood smear showed neutrophilic leukocytosis. ESR/CRP and lactate dehydrogenase (LDH) were elevated, and ferritin was 38,291 ng/mL. Tropical disease screening, blood culture, viral serologies, imaging for malignancies, and autoimmune disease panels were negative. She met the diagnostic criteria for AOSD. MAS was suspected of abnormally high ferritin levels, and a bone marrow aspiration biopsy was done. She was given IV steroids with some improvement. The biopsy showed hypercellular marrow with erythroid hyperplasia, dyserythropoietic changes, and increased macrophages with phagocytic activity suggestive of MAS. She was started on dexamethasone and cyclosporine which eventually improved her condition. Several complications can arise in AOSD, around 15% of these patients can have MAS which is regarded as one of the most severe complications. With studies showing a mortality rate of more than 50% in patients of AOSD with MAS which is five times more than the mortality rate with AOSD alone, understanding this combined picture and timely aggressive treatment has a huge importance.
噬血细胞性淋巴组织细胞增生症（HLH）是一种致命的全身性高炎症综合征。HLH可能由免疫抑制、感染、癌症或伴有发热和血细胞减少的自身免疫性疾病引起。发生在成人斯蒂尔病（AOSD）中的HLH被称为继发性HLH，也称为巨噬细胞活化综合征（MAS）。在此，我们报告一例36岁尼泊尔女性病例，该患者无已知合并症，有发热、咽痛、多关节疼痛、皮疹反复、脱发及体重莫名减轻1个月的病史。她血压低，高热。眼睑肿胀，面部、躯干和四肢有红斑性斑疹，其余全身检查正常。检查显示白细胞增多、贫血，血涂片显示中性粒细胞增多。红细胞沉降率/ C反应蛋白（ESR/CRP）和乳酸脱氢酶（LDH）升高，铁蛋白为38291 ng/mL。热带病筛查、血培养、病毒血清学、恶性肿瘤影像学检查及自身免疫性疾病相关检查均为阴性。她符合AOSD的诊断标准。因铁蛋白水平异常升高怀疑为MAS，遂进行了骨髓穿刺活检。给予静脉注射类固醇后病情有所改善。活检显示骨髓细胞增多，有红系增生、红细胞生成异常改变，巨噬细胞增多且具有吞噬活性，提示MAS。开始使用地塞米松和环孢素治疗，最终病情好转。AOSD可出现多种并发症，约15%的此类患者会发生MAS，这被视为最严重的并发症之一。研究表明，AOSD合并MAS患者的死亡率超过50%，是单纯AOSD患者死亡率的五倍，了解这种综合情况并及时进行积极治疗至关重要。
