Table 5.

Revised diagnostic guidelines for the diagnosis of FHL

  • The diagnosis of FHL can be established if at least 1 of either 1, 2, or 3 below is fulfilled∗ 

  • A molecular diagnosis consistent with FHL in a patient with signs/symptoms suggestive of HLH

  • Functional cellular findings consistent with FHL in a patient with signs/symptoms suggestive of HLH

  • Clinical diagnostic criteria for FHL with at least 5 of the 7 criteria below fulfilled∗

    • fever ≥38.5°C

    • splenomegaly (≥2 cm below the costal margin)

    • cytopenias (affecting ≥2/3 lineages in the peripheral blood: hemoglobin <90 g/L; platelets <100 × 109/L; neutrophils <1.0 × 109/L [in infants aged <4 wk: hemoglobin <100 g/L])

    • hypertriglyceridemia and/or hypofibrinogenemia:

      • fasting triglycerides ≥3.0 mmol/L and fibrinogen ≤1.5 g/L

    • hemophagocytosis

    • ferritin ≥500 μg/L

    • sCD25 (ie, soluble interleukin-2 receptor) ≥2400 U/mL

 

  • The diagnosis of FHL can be established if at least 1 of either 1, 2, or 3 below is fulfilled∗ 

  • A molecular diagnosis consistent with FHL in a patient with signs/symptoms suggestive of HLH

  • Functional cellular findings consistent with FHL in a patient with signs/symptoms suggestive of HLH

  • Clinical diagnostic criteria for FHL with at least 5 of the 7 criteria below fulfilled∗

    • fever ≥38.5°C

    • splenomegaly (≥2 cm below the costal margin)

    • cytopenias (affecting ≥2/3 lineages in the peripheral blood: hemoglobin <90 g/L; platelets <100 × 109/L; neutrophils <1.0 × 109/L [in infants aged <4 wk: hemoglobin <100 g/L])

    • hypertriglyceridemia and/or hypofibrinogenemia:

      • fasting triglycerides ≥3.0 mmol/L and fibrinogen ≤1.5 g/L

    • hemophagocytosis

    • ferritin ≥500 μg/L

    • sCD25 (ie, soluble interleukin-2 receptor) ≥2400 U/mL

 
∗

It is always of vital importance to search for the underlying cause(s) for the HLH syndrome, which may be either genetic, such as FHL, and/or acquired, such as an infection, a malignancy, or an autoimmune or autoinflammatory disorder.

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