Table 1.
HLH features of patient 1 and 2.
| HLH criteria: | Patient 1 | Patient 2 | |
|---|---|---|---|
| 1. | Fever ≥38.5 | Yes | Yes |
| 2. | Splenomegaly (palpable below costal margin or increased size by imagery) | No | Yes |
| 3. | Cytopenias (affecting ≥2 out of the 3 lineages): – Hemoglobin (< 90 g/l) – Neutrophilic granulocytes (< 1.0 × 109/l) – Platelet count (< 100 × 109/l) | Yes: 73 g/l 0.71 × 109/l (Plts: not fulfilled) | Yes: (Hb: not fulfilled) 0.38 × 109/l 53 × 109/l |
| 4. | Hemophagocytosis (in bone marrow or CSF) | Yes | NA |
| 5. | Hyperferritinemia (≥500 μg/l) | Yes: 7,090 μg/l | Yes: 4,510 μg/l |
| 6. | Hypertriglyceridemia (fasting level: ≥3.0 mmol/l) or hypofibrinogenemia ( ≤ 1.5 g/l) | Yes: triglyceride fasting level: 5.8 mmol/l | NA |
| 7. | Increased soluble CD25 (≥2,400 U/l) | No (although above normal level) | No |
| 8. | Decreased protein expression (Perforin, SAP, or XIAP) or deficient NK-cell degranulation | Perforin expression in lower range of normal, NK cell degranulation on the threshold | Perforin expression in lower range of normal, NK cell degranulation on the threshold |
| Totally fulfilled criteria* (≥ 5 out of 8) | Criteria fulfilled (5 out of 8 fulfilled) | Criteria not fulfilled, not all analyzed (4 out of 6 fulfilled) | |
*
Diagnosis of an active HLH episode can be established if 5 out of the 8 criteria listed above are fulfilled. NA, not analyzed.