Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis.
Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis.
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DOI：
10.1186/ar3843
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发表时间：
2012-06-08
影响因子：
4.9
通讯作者：
Ehl S
中科院分区：
文献类型：
--
作者：
Bode SF;Lehmberg K;Maul-Pavicic A;Vraetz T;Janka G;Stadt UZ;Ehl S
噬血细胞淋巴组织细胞增多症是一种罕见的严重炎症反应疾病，其原因是活化的淋巴细胞和巨噬细胞分泌大量炎性细胞因子。这是一种常见的表现在患者的易感性遗传缺陷，但可继发于各种感染，恶性和自身免疫触发的患者没有已知的遗传易感性。临床特征是持续发热、细胞减少、肝脾肿大和神经症状，但表现为慢性免疫缺陷迹象的非典型变异越来越被认识到。穿孔素的分泌受损是该病几种遗传形式的关键特征，但不是疾病发病机制所必需的。尽管在诊断和治疗方面取得了进展，但重度HLH患者的死亡率仍在40%以上。参照治疗是一种以依托泊苷为基础的方案，但目前正在探索新的方法。良好预后的关键是快速识别潜在的遗传原因，最近的免疫学和遗传学进展促进了这一点。在易患遗传性疾病的患者中，造血干细胞移植越来越多地采用低强度的条件反射方案。目前的研究旨在更好地了解疾病的发病机制，并评估更有针对性的治疗方法，包括抗细胞因子抗体和基因治疗。
Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and macrophages secreting high amounts of inflammatory cytokines. It is a frequent manifestation in patients with predisposing genetic defects, but can occur secondary to various infectious, malignant, and autoimmune triggers in patients without a known genetic predisposition. Clinical hallmarks are prolonged fever, cytopenias, hepatosplenomegaly, and neurological symptoms, but atypical variants presenting with signs of chronic immunodeficiency are increasingly recognized. Impaired secretion of perforin is a key feature in several genetic forms of the disease, but not required for disease pathogenesis. Despite progress in diagnostics and therapy, mortality of patients with severe HLH is still above 40%. Reference treatment is an etoposide-based protocol, but new approaches are currently explored. Key for a favorable prognosis is the rapid identification of an underlying genetic cause, which has been facilitated by recent immunological and genetic advances. In patients with predisposing genetic disease, hematopoietic stem cell transplantation is performed increasingly with reduced intensity conditioning regimes. Current research aims at a better understanding of disease pathogenesis and evaluation of more targeted approaches to therapy, including anti-cytokine antibodies and gene therapy.
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影响因子：
20.3
作者：
Bryceson, Yenan T.;Pende, Daniela;Ehl, Stephan
通讯作者：
Ehl, Stephan
影响因子：
5.1
作者：
Duval, M;Fenneteau, O;Vilmer, E
通讯作者：
Vilmer, E
影响因子：
15.9
作者：
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通讯作者：
de Saint Basile, Genevieve
影响因子：
20.3
作者：
Bryceson, Yenan T.;Rudd, Eva;Ljunggren, Hans-Gustaf
通讯作者：
Ljunggren, Hans-Gustaf
影响因子：
1.7
作者：
Gokce, M.;Unal, O.;Tokatli, A.
通讯作者：
Tokatli, A.