Sen Ethan S, Steward Colin G, Ramanan Athimalaipet V
Department of Paediatric Rheumatology, Bristol Royal Hospital for Children, Bristol, UK.
Department of Paediatric Haematology, Oncology and Bone Marrow Transplantation, Bristol Royal Hospital for Children, Bristol, UK.
Arch Dis Child. 2017 Mar;102(3):279-284. doi: 10.1136/archdischild-2016-310772. Epub 2016 Oct 24.
Haemophagocytic syndrome, or haemophagocytic lymphohistiocytosis (HLH), is a hyperinflammatory disorder characterised by uncontrolled activation of the immune system. It can result from mutations in multiple genes involved in cytotoxicity or occur secondary to a range of infections, malignancies or autoimmune rheumatic diseases. In the latter case, it is also known as macrophage activation syndrome (MAS). Characteristic features are persistent fever, hepatosplenomegaly, petechial/purpuric rash, progressive cytopenias, coagulopathy, transaminitis, raised C reactive protein, falling erythrocyte sedimentation rate, hypertriglyceridaemia, hypofibrinogenaemia and extreme hyperferritinaemia often associated with multi-organ impairment. Distinguishing HLH from systemic sepsis can present a major challenge. Criteria for diagnosis and classification of HLH and MAS are available and a serum ferritin >10 000 µg/L is strongly supportive of HLH. Without early recognition and appropriate treatment, HLH is almost universally fatal. However, with prompt referral and advancements in treatment over the past two decades, outcomes have greatly improved.
噬血细胞综合征，即噬血细胞性淋巴组织细胞增生症（HLH），是一种以免疫系统不受控制激活为特征的高度炎症性疾病。它可能由参与细胞毒性的多个基因突变引起，或继发于一系列感染、恶性肿瘤或自身免疫性风湿性疾病。在后一种情况下，它也被称为巨噬细胞活化综合征（MAS）。其特征性表现为持续发热、肝脾肿大、瘀点/紫癜性皮疹、进行性血细胞减少、凝血功能障碍、转氨酶升高、C反应蛋白升高、红细胞沉降率下降、高甘油三酯血症、低纤维蛋白原血症以及常与多器官损害相关的极度高铁蛋白血症。将HLH与全身性脓毒症区分开来可能是一项重大挑战。HLH和MAS的诊断及分类标准已经存在，血清铁蛋白>10000μg/L强烈支持HLH的诊断。如果没有早期识别和适当治疗，HLH几乎无一例外会导致死亡。然而，随着过去二十年来的及时转诊和治疗进展，治疗结果有了很大改善。
