Department of Internal Medicine, Albert Einstein Healthcare Network, East Norriton, PA 19141, USA.
Department of Hematology-Oncology, Albert Einstein Healthcare Network, Philadelphia, PA 19141, USA.
Curr Oncol. 2023 Mar 21;30(3):3529-3536. doi: 10.3390/curroncol30030268.
Hemophagocytic lymphohistiocytosis (HLH) is a rare and very dangerous condition characterized by abnormal activation of the immune system, causing hemophagocytosis, inflammation, and potentially widespread organ damage. The primary (genetic) form, caused by mutations affecting lymphocyte cytotoxicity, is most commonly seen in children. Secondary HLH is commonly associated with infections, malignancies, and rheumatologic disorders. Most current information on diagnosis and treatment is based on pediatric populations. HLH is a disease that should be diagnosed and treated promptly, otherwise it is fatal. Treatment is directed at treating the triggering disorder, along with symptomatic treatment with dexamethasone and etoposide. We present a 56-year-old patient who was admitted with worsening weakness, exertional dyspnea, dry and nonproductive cough, and a 5-pound weight loss associated with loss of appetite. This is among the rare disorders that are not commonly encountered in day-to-day practice. Our differential diagnoses were broad, including infection, such as visceral leishmaniasis, atypical/tuberculous mycobacteria, histoplasmosis, Ehrlichia, Bartonella, Brucella, Adenovirus, disseminated herpes simplex virus (HSV), hematological-like Langerhans cell histiocytosis, or multicentric Castleman disease; drug reaction, such as drug rash with eosinophilia and systemic symptoms (DRESS); and metabolic disorder, including Wolman's disease (infantile lysosomal acid lipase deficiency) or Gaucher's disease. Based on our investigations as described in our case report, it was narrowed down to hemophagocytic lymphohistiocytosis and COVID-19. Two COVID-19 tests were negative. His lab abnormalities and diagnostic testing revealed hemophagocytic lymphohistiocytosis. He was empirically started on antibiotics and dexamethasone, to be continued for 2 weeks then tapered if the patient showed continued improvement. Dexamethasone was tapered over 8 weeks. He improved on just one of the Food and Drug Administration (FDA)-approved medications, proving that treatment should be tailored to the patient. In addition, in this case study, we included the background, etiology, pathogenesis, diagnosis, management, and prognosis of HLH.
噬血细胞性淋巴组织细胞增生症（HLH）是一种罕见且非常危险的病症，其特征为免疫系统异常激活，导致噬血细胞、炎症，并可能导致广泛的器官损伤。由影响淋巴细胞细胞毒性的突变引起的原发性（遗传）形式，最常见于儿童。继发性 HLH 常与感染、恶性肿瘤和风湿性疾病有关。目前大多数关于诊断和治疗的信息都是基于儿科人群。HLH 是一种应迅速诊断和治疗的疾病，否则会致命。治疗方法是针对触发疾病进行治疗，并辅以地塞米松和依托泊苷对症治疗。我们报告了一名 56 岁患者，他因进行性虚弱、运动性呼吸困难、干咳和无痰以及与食欲不振相关的 5 磅体重减轻而入院。这是一种在日常实践中不常见的罕见疾病。我们的鉴别诊断范围很广，包括感染，如内脏利什曼病、非典型/结核分枝杆菌、组织胞浆菌病、埃立克体病、巴尔通体病、布鲁氏菌病、腺病毒、播散性单纯疱疹病毒（HSV）、血液样朗格汉斯细胞组织细胞增生症或多中心 Castleman 病；药物反应，如药物皮疹伴嗜酸性粒细胞增多和全身症状（DRESS）；以及代谢紊乱，包括沃尔曼病（婴儿溶酶体酸性脂肪酶缺乏症）或戈谢病。根据我们在病例报告中描述的调查，将其缩小到噬血细胞性淋巴组织细胞增生症和 COVID-19。两次 COVID-19 检测均为阴性。他的实验室异常和诊断性检查显示噬血细胞性淋巴组织细胞增生症。他被经验性地开始使用抗生素和地塞米松治疗，持续 2 周，如果患者持续好转则逐渐减少剂量。地塞米松在 8 周内逐渐减少。他只对一种美国食品和药物管理局（FDA）批准的药物有改善，证明治疗应该针对患者进行调整。此外，在本病例研究中，我们还包括了 HLH 的背景、病因、发病机制、诊断、管理和预后。
