Table 3.
Overall outcome, course of disease, survival, and sequelae in all patients and in familial patients
| All patients, n = 249 (%) | Familial patients, n = 60 (%) | |
|---|---|---|
| Outcome | ||
| Alive after HSCT | 82 (33) | 29 (48) |
| Dead after HSCT | 42 (17) | 15 (25) |
| Alive without HSCT | 53 (21) | 0 |
| Dead prior to HSCT | 72 (29) | 16 (27) |
| Efficacy of HLH-94 pre-HSCT therapy | ||
| Admitted to HSCT + alive without HSCT | 124 + 53 (71) | 44 + 0 (73) |
| Dead during initial or continuation therapy | 72 (29) | 16 (27) |
| Survival | ||
| 5-y cumulative survival, ± 95% CI | 54 ± 6 | 50 ± 13 |
| Alive at last follow-up | 135 (55) | 29 (48) |
| Course | ||
| Alive or HSCT at 2 mo | 214 (86) | 55 (92) |
| Alive without HSCT at 2 mo | 212 (85) | 55 (92) |
| NAD* at 2 mo (without HSCT) | 122/207 (59) | 37/54 (69) |
| Alive or HSCT at 6 mo | 196/248 (79) | 50 (83) |
| Alive without HSCT at 6 mo | 136/188 (72) | 30/40 (75) |
| HSCT performed | 124 (50) | 44 (73) |
| Off therapy, no HSCT† | 49 (20) | 0 |
| Sequelae in survivors‡ | (n = 135) | (n = 29) |
| Neurological | 25 (19) | 9 (31) |
| Non-neurological | 21/132 (16) | 8/27 (30) |
CI indicates confidence interval; NAD, nonactive disease; HLH, hemophagocytic lymphohistiocytosis; and ADHD, attention-deficit/hyperactivity disorder.
NAD, as stated by the treating clinician.
Off therapy: Alive without HSCT, no signs of HLH activity, and no HLH therapy for ≥ 1 year.
The most frequently reported neurological sequelae was epilepsy, in 9 patients. Other CNS sequelae ranged from severe mental retardation to speech delay, learning difficulties, motor dysfunctions, cranial nerve paresis and ADHD. Reported non-neurological sequelae included nutritional problems and/or growth retardation, hypertension, impaired renal function, obstructive bronchiolitis, and hearing impairment.