Lab: Ferritin 8800, triglyceride 272, liver enzyme increased.
Diagnosis: Secondary Hemophagocytic lymphohistiocytosis with CNS involvement.
Diagnosis: Secondary Hemophagocytic lymphohistiocytosis with CNS involvement.
Hemophagocytic lymphohistiocytosis (HLH) classification
Primary or familial HLH
•Familial (non-immune deficiency)HLH
•Immune deficiency HLH (eg. Chadiak-Higashi Syn.)
Secondary or acquired HLH
•Infection associated HLH
•Malignant-associated HLH (eg.Lymphoma-associated HLH)
•Autoimmune disease-associated HLH (eg. Macrophage activation syn)
Primary and secondary HLH are clinically and morphologically indistinguishable from each other. (From Rouphael NG, Lancet Infect Dis 2007;7:814-22)
Diagnostic guidelines for haemophagocytic syndrome
The diagnosis of haemophagocytic syndrome is established by fulfilling one of the following criteria:
1. A molecular diagnosis consistent with haemophagocytic syndrome (eg, PRF mutations, SAP mutations, MUNC13-4 mutations)
2. Having five out of eight of the following
• Fever
• Splenomegaly
• Cytopenia (affecting more than two cell lineages, haemoglobin ≤9g/dL, <100 000 platelets per μL, neutrophils <1000 cells per μL)
• Hypertriglyceridaemia (triglycerides ≥265 mg/dL) and/or hypofibrinogenaemia (fibrinogen ≤150mg/dL)
• Haemophagocytosis in the bone marrow, spleen, or lymph nodes without evidence of malignancy
• Low or absent natural killer cell cytotoxicity
• Hyperferritinaemia (ferritin ≥500 ng/mL)
• Elevated soluble CD25 (interleukin-2Rα chain ≥2400 IU/mL)
( Henter JI, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007 Feb;48(2):124-31)
Primary or familial HLH
•Familial (non-immune deficiency)HLH
•Immune deficiency HLH (eg. Chadiak-Higashi Syn.)
Secondary or acquired HLH
•Infection associated HLH
•Malignant-associated HLH (eg.Lymphoma-associated HLH)
•Autoimmune disease-associated HLH (eg. Macrophage activation syn)
Primary and secondary HLH are clinically and morphologically indistinguishable from each other. (From Rouphael NG, Lancet Infect Dis 2007;7:814-22)
Diagnostic guidelines for haemophagocytic syndrome
The diagnosis of haemophagocytic syndrome is established by fulfilling one of the following criteria:
1. A molecular diagnosis consistent with haemophagocytic syndrome (eg, PRF mutations, SAP mutations, MUNC13-4 mutations)
2. Having five out of eight of the following
• Fever
• Splenomegaly
• Cytopenia (affecting more than two cell lineages, haemoglobin ≤9g/dL, <100 000 platelets per μL, neutrophils <1000 cells per μL)
• Hypertriglyceridaemia (triglycerides ≥265 mg/dL) and/or hypofibrinogenaemia (fibrinogen ≤150mg/dL)
• Haemophagocytosis in the bone marrow, spleen, or lymph nodes without evidence of malignancy
• Low or absent natural killer cell cytotoxicity
• Hyperferritinaemia (ferritin ≥500 ng/mL)
• Elevated soluble CD25 (interleukin-2Rα chain ≥2400 IU/mL)
( Henter JI, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007 Feb;48(2):124-31)