Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
J Clin Immunol. 2021 Aug;41(6):1213-1218. doi: 10.1007/s10875-021-01025-3. Epub 2021 Mar 24.
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of severe immune dysregulation that encompasses a broad range of underlying genetic diseases and infectious triggers. Monogenic conditions, autoimmune diseases, and infections can all drive the phenotype of HLH and associated immune hyperactivation with hypercytokinemia. A diagnosis of HLH usually requires a combination of clinical and laboratory findings; there is no single sensitive and specific diagnostic test, which often leads to "diagnostic dilemmas" and delays in treatment initiation. Ferritin levels, one of the most commonly used screening tests, were collected across a large tertiary care pediatric hospital to identify the positive predictive value for HLH. Herein, we present several cases that illustrate the clinical challenges of confirming an HLH diagnosis. Additionally, we report on the utility of establishing a formal multi-disciplinary group to aid the prompt diagnosis and treatment of patients presenting with HLH-like pathophysiologies.
噬血细胞性淋巴组织细胞增生症（HLH）是一种严重的免疫失调综合征，涵盖了广泛的潜在遗传疾病和感染触发因素。单基因疾病、自身免疫性疾病和感染都可以驱动 HLH 的表型和相关的免疫过度激活伴高细胞因子血症。HLH 的诊断通常需要结合临床和实验室发现；目前尚无单一敏感和特异性的诊断测试，这往往导致“诊断困境”和治疗启动延迟。铁蛋白水平是最常用的筛查试验之一，在一家大型三级儿科医院进行了检测，以确定其对 HLH 的阳性预测值。在此，我们介绍了几个病例，这些病例说明了确认 HLH 诊断的临床挑战。此外，我们还报告了建立一个正式的多学科小组来帮助快速诊断和治疗具有 HLH 样病理生理学的患者的效用。
