Clinical and laboratory characteristics, CNS involvement at presentation and clinical outcome for patients in different HLH groups.
| FHL (N=62) | Non-FHL (N=7) | Unknown-genetics (N=18) | Total (N=87) | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Age at onset | 0.008 | 0.002 | ||||||||
| ≤12 mo | 50 (80.6%) | 2 (28.6%) | 11 (61.1%) | 63 (72.4%) | 8 (50.0%) | 10 (83.3%) | 26 (96.3%) | 6 (85.7%) | ||
| >12 mo | 12 (19.4%) | 5 (71.4%) | 7 (38.9%) | 24 (27.6%) | 8 (50.0%) | 2 (16.7%) | 1 (3.7%) | 1 (14.3%) | ||
| Age at onset in years, median (range) | 0.3 (0–6.9) | 3.2 (0.7–6.0) | 0.8 (0–8.5) | 0.4 (0–8.5) | 0.005 | 1.0 (0.1–5.2) | 0.2 (0.1–5.9) | 0.3 (0.0–1.2) | 0.2 (0.0–6.9) | 0.028 |
| Gender (M/F) | 39/23 | 5/2 | 8/10 | 52/35 | 0.318 | 12/4 | 7/5 | 18/9 | 2/5 | 0.208 |
| Consanguinity | 48/61 (78.7%) | 5/6 (83.3%) |
11/16 (68.8%) | 64/83 (77.1%) | 0.667 | 12 (75%) | 11 (91.7%) | 21 (77.8 %) | 4/6 (66.7%) | 0.575 |
| Symptoms at presentation | ||||||||||
| Fever | 61 (98.4%) |
6 (85.7%) | 17 (94.4%) | 84 (96.6%) | 0.108 | 16 (100%) | 11 (91.7%) | 27 (100%) | 7 (100%) | 0.306 |
| Splenomegaly | 62 (100%) | 7 (100%) | 16 (89%) | 85 (97.7%) | 0.080 | 16 (100%) | 12 (100%) | 27 (100%) | 7 (100%) | - |
| Hepatomegaly | 60 (96.8%) | 6 (85.7%) | 16 (88.9%) | 82 (94.3%) | 0.162 | 15 (93.8%) | 12 (100%) | 26 (96.3%) | 7 (100%) | 1.0 |
| Skin rash | 2 (3.2%) | 0 (0%) | 2 (11.1%) | 4 (4.6%) | 0.444 | 1 (6.2%) | 0 (0%) | 1 (3.7 %) | 0 (0%) | 1.0 |
| Jaundice | 24 (38.7%) | 0 (0%) | 6 (33.3%) | 30 (34.5%) | 0.147 | 4 (25.0%) | 4 (33.3%) | 13 (48.1 %) | 3 (42.9%) | 0.501 |
| Pancytopenia | 49/54 (90.7%) |
6 (85.7%) | 15/16 (93.8%) | 70/77 (90.9%) | 0.670 | 12/13 (92.3%) | 9/11 (81.8%) | 22/24 (91.7%) | 6/6 (100%) | 0.759 |
| Hyperbilirubinemia | 33 (53.2%) | 3 (42.9) | 11 (61.1%) | 47 (54.0%) | 0.726 | 6 (37.5%) | 9 (75.0%) | 15 (55.6%) | 3 (42.9%) | 0.253 |
| High liver enzymes | 27/47 (57.4%) | 3/6 (50%) | 7/12 (58.3%) | 37/65 (56.9%) | 1.0 | 9/13 (69.2%) | 2/9 (22.2%) | 14/19 (73.7%) | 2/6 (33.3%) | 0.035 |
| Hypertriglyceridemia | 24/48 (50.0%) | 3/4 (75.0%) | 7/11 (63.6%) | 34/63 (54.0%) | 0.596 | 7/14 (50.0%) | 7/11 (63.6%) | 8/17 (47.1%) |
2/6 (33.3%) | 0.692 |
| Hyperferitinemia | 43/53 (81.1%) | 3/4 (75.0%) | 15/16 (93.8%) |
61/73 (83.6%) | 0.426 | 13/14 (92.9%) | 7/11 (63.6%) | 17/22 (77.3%) | 6/6 (100%) | 0.194 |
| Coagulopathy | 22/51 (43.1%) | 2/6 (33.3%) | 4/13 (30.8%) | 28/70 (40.0%) | 0.778 | 3/11 (27.3%) | 5/11 (45.5%) | 10/23 (43.5%) | 4/6 (66.7%) | 0.501 |
| Seizures | 6 (9.7%) | 0 (0.0%) | 1 (5.6%) | 7 (8.0%) | 1.0 | 2 (12.5%) | 1 (8.3%) | 3 (11.1%) | 0 (0.0 %) | 1.0 |
| CNS involvement | 26/35 (74.3%) | 3/5 (60.0%) | 6/12 (50.0%) | 35/52 (67.3%) |
0.248 | 9/11 (81.8%) | 3/5 (60.0%) | 9/13 (69.2%) | 5/6 (83.3%) |
0.778 |
| Hemophagocytosis | 37/53 (69.8%) | 5 (71.4%) | 9/13 (69.2%) | 51/73 (69.9%) |
1.0 | 11/14 (78.6%) | 7/11 (63.6%) | 16/22 (72.7%) | 3/6 (50.0%) |
0.588 |
| Reactivation | 12 (19.4%) | 0 (0.0%) | 5 (27.8%) | 17 (19.5%) |
0.353 | 3 (18.8%) | 2 (16.7%) | 6 (22.2%) | 1/7 (14.3%) | 1.0 |
| HSCT | 44 (71.0%) |
4 (57.1%) | 15 (83.3) | 63 (72.4%) | 0.372 | 12 (75%) | 7 (58.3%) | 24 (88.9%) | 1 (14.3%) | 0.001 |
| Patient status (alive/dead) | 38/24 | 4/3 | 11/7 | 53/34 | 1.0 | 10/6 | 10/2 | 16/11 | 2/5 | 0.142 |
| Five-year OS | 55.3±6.9% | 47.6±22.5% | 57.1±12.5% | 55.4±5.8% | 0.971 | 47.4±16.0% | 80.8±12.2% | 57.4±9.7% | 21.4±17.8% | 0.008 |
| Median follow-up (yr, range) | 5.5 (0.1–20.9) | 4.5 (0.1–8.8) | 5.7 (0.7–11.8) | 5.6 (0.1–20.9) | - | 5.0 (0.2–11.6) | 5.2 (0.4–14.4) | 7.3 (0.3–20.9) | 6.0 (0.1–6.0) | - |
| Five-year OS for patients undergoing HSCT | 66.4±7.4% | 75.0±21.7% | 64.6%±12.9% | 66.5±6.2% | 0.984 | |||||
| Five-year OS for non-HSCT patients | 0.0±0.0% | 0.0±0.0% | 0.0%±0.0% | 0.0±0.0% | - | |||||
| One-year OS for non-HSCT patients | 62.3±12.2% | 66.7±27.2% | 66.7±27.2% | 63.8±10.3% | 0.971 |
Abbreviations: CNS, central nervous system; HSCT, hematopoietic stem cell transplant; OS, overall survival.
Blood Res 2021;56:86~101 https://doi.org/10.5045/br.2021.2020308
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