8/17/2023 0 Comments Hlh up to date![]() ![]() ![]() According to HLH-2004 study criteria, HLH can be diagnosed in a patient with at least 5 of 8 diagnostic criteria and/or disease-causing mutations in HLH-related genes. Of note, these criteria were established in the pediatric setting along the HLH-1994 and HLH-2004 trial protocols including patients up to 18 years (Bergsten et al. HLH diagnosis is based on the HLH-2004 diagnostic criteria established by the Histiocyte Society (summarized in Table Table1) 1) (Henter et al. As a result, and despite a high index of suspicion, there is high likelihood for mis- or underdiagnosing HLH, especially in intensive care units (Lachmann et al. Specifically, HLH often is indistinguishable from sepsis or autoinflammatory diseases (e.g., adult-onset Still disease). The spectrum of possible underlying conditions and patient characteristics is reflected by distinct clinical presentations which also can mimic other diseases, making timely diagnosis challenging. However, a number of endogenous (i.e., genetic predisposition, preexisting inflammation) and exogenous factors (i.e., immunosuppression, triggering disease) play a role in HLH pathogenesis (Brisse et al. Clinically, a triad consisting of prolonged fever, hepatosplenomegaly and pancytopenia is common. Immunodeficiency syndromes, commonly associated with albinism, also predispose to HLH (Henkes et al. ![]() This includes PRF1, coding for perforin, or genes involved in the transport or exocytosis of perforin-containing lytic granules (Sepulveda and de Saint Basile 2017). In contrast, primary HLH typically manifests in childhood, often has a family history, and is linked to mutations in genes involved in lymphocyte cytotoxicity. The wide spectrum of HLH-initiating conditions in adults is reflected by the term “acquired” or “secondary” HLH. By convention, and with impact on differential treatment, HLH in patients with autoimmune/autoinflammatory diseases is also called macrophage activation syndrome (MAS-HLH) (Emile et al. 2014), as are patients with autoimmune/autoinflammatory disorders. Patients with long-term immunosuppression are at increased risk to develop HLH (Ramos-Casals et al. In adults, this often fatal aberrant immune response most frequently is triggered by infections and malignancies, or a combination of these. Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome driven by excessive activation and stimulation of cytotoxic T-lymphocytes, natural killer T-cells and macrophages with subsequent cytokine storm and organ damage (Janka and Lehmberg 2014). ![]()
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