Fourth Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Front Immunol. 2019 Jan 31;10:55. doi: 10.3389/fimmu.2019.00055. eCollection 2019.
Hemophagocytic lymphohistocytosis (HLH) is characterized by fulminant cytokine storm leading to multiple organ dysfunction and high mortality. HLH is classified into familial (fHLH) and into secondary (sHLH). fHLH is rare and it is due to mutations of genes encoding for perforin or excretory granules of natural killer (NK) cells of CD8-lymphocytes. sHLH is also known as macrophage activation syndrome (MAS). Macrophage activation syndrome (MAS) in adults is poorly studied. Main features are fever, hepatosplenomegaly, hepatobiliary dysfunction (HBD), coagulopathy, cytopenia of two to three cell lineages, increased triglycerides and hemophagocytosis in the bone marrow. sHLH/MAS complicates hematologic malignancies, autoimmune disorders and infections mainly of viral origin. Pathogenesis is poorly understood and it is associated with increased activation of macrophages and NK cells. An autocrine loop of interleukin (IL)-1β over-secretion leads to cytokine storm of IL-6, IL-18, ferritin, and interferon-gamma; soluble CD163 is highly increased from macrophages. The true incidence of sHLH/MAS among patients with sepsis has only been studied in the cohort of the Hellenic Sepsis Study Group. Patients meeting the Sepsis-3 criteria and who had positive HSscore or co-presence of HBD and disseminated intravascular coagulation (DIC) were classified as patients with macrophage activation-like syndrome (MALS). The frequency of MALS ranged between 3 and 4% and it was an independent entity associated with early mortality after 10 days. Ferritin was proposed as a diagnostic and surrogate biomarker. Concentrations >4,420 ng/ml were associated with diagnosis of MALS with 97.1% specificity and 98% negative predictive value. Increased ferritin was also associated with increased IL-6, IL-18, IFNγ, and sCD163 and by decreased IL-10/TNFα ratio. A drop of ferritin by 15% the first 48 h was a surrogate finding of favorable outcome. There are 10 on-going trials in adults with sHLH; two for the development of biomarkers and eight for management. Only one of them is focusing in sepsis. The acronym of the trial is PROVIDE (ClinicalTrials.gov NCT03332225) and it is a double-blind randomized clinical trial aiming to deliver to patients with septic shock treatment targeting their precise immune state. Patients diagnosed with MALS are receiving randomized treatment with placebo or the IL-1β blocker anakinra.
噬血细胞性淋巴组织细胞增生症(HLH)的特征是暴发性细胞因子风暴导致多器官功能障碍和高死亡率。HLH 分为家族性(fHLH)和继发性(sHLH)。fHLH 罕见,是由于穿孔素或 NK 细胞的外分泌颗粒的 CD8-淋巴细胞的基因突变引起的。sHLH 也称为巨噬细胞活化综合征(MAS)。成人的巨噬细胞活化综合征(MAS)研究较少。主要特征是发热、肝脾肿大、肝胆功能障碍(HBD)、凝血功能障碍、两种或三种细胞谱系的血细胞减少、骨髓中甘油三酯和噬血细胞增加。sHLH/MAS 并发血液系统恶性肿瘤、自身免疫性疾病和感染,主要为病毒感染。发病机制尚不清楚,与巨噬细胞和 NK 细胞的过度激活有关。白细胞介素(IL)-1β的自分泌循环过度分泌导致 IL-6、IL-18、铁蛋白和干扰素-γ的细胞因子风暴;来自巨噬细胞的可溶性 CD163 高度增加。只有在希腊脓毒症研究组的队列中,对脓毒症患者中 sHLH/MAS 的真实发病率进行了研究。符合 Sepsis-3 标准且 HSscore 阳性或存在 HBD 和弥散性血管内凝血(DIC)的患者被归类为巨噬细胞活化样综合征(MALS)患者。MALS 的频率在 3%至 4%之间,是一种独立的实体,与 10 天后的早期死亡率相关。铁蛋白被提议作为一种诊断和替代生物标志物。浓度>4420ng/ml 与 MALS 诊断相关,特异性为 97.1%,阴性预测值为 98%。铁蛋白升高也与 IL-6、IL-18、IFNγ和 sCD163 升高以及 IL-10/TNFα 比值降低有关。前 48 小时铁蛋白下降 15%是预后良好的替代指标。目前有 10 项针对成人 sHLH 的临床试验;两项用于开发生物标志物,八项用于管理。只有一项专注于脓毒症。该试验的缩写是 PROVIDE(ClinicalTrials.gov NCT03332225),这是一项双盲随机临床试验,旨在针对感染性休克患者的精确免疫状态提供治疗。诊断为 MALS 的患者接受随机安慰剂或 IL-1β 阻滞剂 anakinra 治疗。