Ost A, Nilsson-Ardnor S, Henter J I
Department of Pathology and Cytology, Karolinska Hospital, Karolinska Institute, Stockholm, Sweden.
Histopathology. 1998 Apr;32(4):310-6. doi: 10.1046/j.1365-2559.1998.00377.x.
Primary haemophagocytic lymphohistiocytosis (HLH) is a fatal childhood disorder. The diagnosis is difficult to establish, clinically as well as histopathologically, and it is markedly underdiagnosed. Because of these difficulties, we wanted to elucidate the histopathological findings in population-based patient material.
The post-mortem findings in 27 children with primary HLH diagnosed in Sweden between 1971 and 1986 was reviewed. Twelve of these patients had an affected sibling and three additional children had parental consanguinity. Some of the children showed generalized disease, whereas in others only one or a few organs were affected. The major histological alteration was an accumulation of primarily lymphocytes, but also of histiocytes, some of which exhibited evidence of haemophagocytosis. The haemophagocytic activity may be difficult to detect if there are pronounced post-mortem changes, particularly in the spleen, and it is therefore preferable to perform the autopsy as soon as possible after death in order to minimize autolysis. Haemophagocytosis was most commonly observed in the spleen (17/24), the lymph nodes (17/23) and the bone marrow (9/23), indicating that a negative bone marrow examination does not rule out this diagnosis. Three additional patients had discrete signs of haemophagocytosis in the bone marrow. In the spleen, the lymph nodes and the bone marrow, lymphocytic depletion, pronounced in some cases, could be observed, even without prior treatment with steroids or cytostatics. In the liver, most of the patients demonstrated an infiltration of lymphocytes into the portal tracts similar to that seen in chronic persistent hepatitis (22/27), a finding which is uncommon in infancy and therefore suggestive of the diagnosis HLH. Other organs involved included the thymus, lungs intestine, pancreas, kidney, heart and striated muscle.
The diagnosis of HLH must be based on clinical, histological and additional laboratory findings. A negative bone marrow examination is common. Previous treatment with steroids and/or cytostatic drugs may attenuate or even eliminate the typical histological findings. Liver findings similar to those in chronic persistent hepatitis are common.
原发性噬血细胞性淋巴组织细胞增生症（HLH）是一种致命的儿童疾病。其诊断在临床及组织病理学方面都很难确立，且明显存在诊断不足的情况。鉴于这些困难，我们希望阐明基于人群的患者材料中的组织病理学发现。
回顾了1971年至1986年在瑞典诊断出的27例原发性HLH儿童的尸检结果。其中12例患者有患病的兄弟姐妹，另外3名儿童的父母有血缘关系。部分儿童表现为全身性疾病，而其他儿童仅有一个或少数器官受累。主要的组织学改变是主要淋巴细胞的聚集，还有组织细胞的聚集，其中一些表现出噬血现象。如果存在明显的死后变化，尤其是在脾脏中，噬血活性可能难以检测到，因此最好在死后尽快进行尸检，以尽量减少自溶。噬血现象最常见于脾脏（17/24）、淋巴结（17/23）和骨髓（9/23），这表明骨髓检查结果为阴性并不能排除该诊断。另外3例患者在骨髓中有散在的噬血迹象。在脾脏、淋巴结和骨髓中，即使没有事先使用类固醇或细胞抑制剂进行治疗，也可观察到淋巴细胞减少，在某些情况下较为明显。在肝脏中，大多数患者表现出淋巴细胞浸润至门静脉区，类似于慢性持续性肝炎所见（22/27），这一发现在婴儿期并不常见，因此提示HLH的诊断。其他受累器官包括胸腺、肺、肠、胰腺、肾、心脏和横纹肌。
HLH的诊断必须基于临床、组织学及其他实验室检查结果。骨髓检查结果为阴性很常见。先前使用类固醇和/或细胞抑制药物治疗可能会减弱甚至消除典型的组织学表现。与慢性持续性肝炎相似的肝脏表现很常见。
