Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis.
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Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis. / Bode, Sebastian Fn; Lehmberg, Kai; Maul-Pavicic, Andrea; Vraetz, Thomas; Janka-Schaub, Gritta; Zur Stadt, Udo; Ehl, Stephan.
In: ARTHRITIS RES THER, Vol. 14, No. 3, 3, 2012, p. 213.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis.
AU - Bode, Sebastian Fn
AU - Lehmberg, Kai
AU - Maul-Pavicic, Andrea
AU - Vraetz, Thomas
AU - Janka-Schaub, Gritta
AU - Zur Stadt, Udo
AU - Ehl, Stephan
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - Humans
KW - Lymphohistiocytosis, Hemophagocytic/diagnosis/therapy
KW - Humans
KW - Lymphohistiocytosis, Hemophagocytic/diagnosis/therapy
U2 - 10.1186/ar3843
DO - 10.1186/ar3843
M3 - SCORING: Journal article
VL - 14
SP - 213
JO - ARTHRITIS RES THER
JF - ARTHRITIS RES THER
SN - 1478-6354
IS - 3
M1 - 3
ER -