科研之友
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摘要
Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome caused by genetic and acquired defects of the molecular machinery, which regulate the cellular immune synapse. Rapid recognition of symptoms resembling HLH, and a targeted diagnostic approach are essential in improving outcome. The condition is associated with a mortality rate between 40% and 70%. For the clinician, the most important step towards diagnosing HLH is to include it in the list of potential differential diagnoses. The leading triad of symptoms consists of prolonged fever of unknown origin, hepatosplenomegaly, and bi- or pancytopeniae. A known family history or known gene mutations require rapid confirmatory testing, which facilitates the initiation of a life saving risk-adapt-ed treatment that includes stem cell transplantation. In adults with de-novo infection with Epstein-Barr virus, a broad diagnostic approach is required to identify potential late-onset hereditary HLH. HLH is not a diagnosis, per se, but represents a common terminal pathway of diseases with the ability to trigger HLH. Such diseases include infections, malignant disorders, autoimmune or autoinflammatory diseases, and iatrogenic triggers such as immunosuppressive treatment or stem cell transplantation itself. This broad spectrum of HLH pathogenesis must be considered in order to achieve rapid diagnosis, which is a prerequisite for the initiation of rationale treatment.
- 出版日期2013-9
