Table 2 Diagnosis Guidelines for HLS

Diagnostic Guidelines for HLS

1. Molecular diagnosis consistent with HLS

 Mutations of PRF1, UNC13D, STXBP1, RAB27A, STX11, SH2D1A or XIAP

OR

2. Five out of the eight following criteria

 Fever (> 38.4)

 Hepatomegaly and/or Splenomegaly

 Cytopenia (Hemoglobin < 9.0 g/dL; and/or Platelets < 100 per 10⁹/L; and/or neutrophil < 1 cell per 10⁹/L)

 Hypertriglyceridemia (> 265.5 mg/dL while fasting) and/or Hypofibrinogenemia (< 274 mg/dL)

 Ferritin > 500 ng/mL

 Hemophagocytosis in bone marrow, spleen, lymph node, or liver

 Low or absent NK cells cytotoxic activity

Elevated soluble α-chain interleukin 2 receptor (≥ 2400 IU/mL)