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Table 2 Features of patients meeting HLH 2004 criteria

From: Intravenous administration of anakinra in children with macrophage activation syndrome

 

Patient 15

Patient 16

Patient 17

Patient 18

Patient 19

Familial Genetic Panel

Negative

Negative

Heterozygous mutation: UNC13D C753 + 1 G > T

Negative

Heterozygous mutations: STXBP2 T248M LYST R3412H

Fever > 7 days

Yes

Yes

Yes

Yes

Yes

Splenomegaly

No

No

No

Yes

No

Cytopenia’s (>  2 lineages)x

No

No

Yes

Yes

Yes

Hypertriglyceridemia (> 265 mg/dl) or Hypofibrinogenemia (<  150 mg/dL)

Yes

Yes

Yes

Yes

Yes

Hemophagocytes on bone marrow

Yes

Yes

Not done

Yes

No

Low NK cell activity

No

Yes

Yes

Yes

No

Ferritin > 500 micrograms/ L

Yes

Yes

Yes

Yes

Yes

Soluble CD25 > 2400 U/mL

Yes

Yes

No

No

Yes

  1. Cytopenia x: Hemoglobin < 9 g/dL, Platelets < 100 × 109 /L or Neutrophils < 1 × 109 /L
  2. Patients meeting HLH 2004 criteria. To fulfil HLH 2004 criteria patients had to meet at least 5 of 8 criteria. All five patients met criteria
  3. Patient #17 and #19 had heterozygous mutations in UNC13D, STXBP2 and LYST genes. These genes have been shown to harbor pathogenic variants related to Hemophagocytic Lymphohistiocytosis