- Diagnosis often follows exclusion of other diagnoses
- Diagnosis is often made in view of clinical context as well as laboratory values
- Scoring system is commonly used – Hscore and HLH-2004
- Definitive diagnosis via Bone Marrow Biopsy
HLH-2004 DIAGNOSTIC CRITERIA. DIAGNOSIS ESTABLISHED IF CRITERION 1 OR 2 IS FULFILLED
| CRITERION 1 |
A molecular diagnosis consistent with HLH
|
| CRITERION 2 (FULFILLED IF 5 OF 8 PRESENT) |
Fever
Splenomegaly
Cytopenias (affecting ≥2 of 3 lineages in peripheral blood
- Hb <90 g/L
- Platelets <100 x 109/L
- Neutrophils <1.0 x 109/L
Hypertriglyceridaemia and or hypofibrinogenemia
- Fasting triglycerides ≥3.0mmol/L
- Fibrinogen ≤1.5g/L
Haemophagocytosis in bone marrow / spleen / lymph nodes. No evidence of malignancy
Low or no NK cell activity
Ferritin ≥500ug/L
Soluble CD35 (IL-2 receptor) ≥2400 U/mL
|
HLH SCORE
|
Parameter
|
Points (criteria for scoring)
|
|
Known underlying immunosuppression
|
0 (no)
18 (yes)
|
|
Temperature ℃
|
0 (<38.4)
33 (38.4-39.4)
49 (>39.4)
|
|
Organomegaly
|
0 (no)
23 (hepatomegaly or splenomegaly)
38 (hepatomegaly and splenomegaly)
|
|
Number of cytopenias
|
0 (1 lineage)
24 (2 lineages)
34 (3 lineages)
|
|
Ferritin μg/L
|
0 (<2000)
35 (2000-6000)
50 (>6000)
|
|
Triglyceride mmol/L
|
0 (<1.5)
44 (1.5-4)
64 (>4)
|
|
Fibrinogen g/L
|
0 (>2.5)
30 (<2.5)
|
|
Aspartate aminotransferase (U/L)
|
0 (<30)
19 (>30)
|
|
Haemophagocytosis on bone marrow aspirate
|
0 (no)
35 (yes)
|
