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 HSCT82 (33)29 (48)
    Dead after HSCT42 (17)15 (25)
    Alive without HSCT53 (21)0
    Dead prior to HSCT72 (29)16 (27)
Efficacy of HLH-94 pre-HSCT therapy
    Admitted to HSCT + alive without HSCT124 + 53 (71)44 + 0 (73)
    Dead during initial or continuation therapy72 (29)16 (27)
Survival
    5-y cumulative survival, ± 95% CI54 ± 650 ± 13
    Alive at last follow-up135 (55)29 (48)
Course
    Alive or HSCT at 2 mo214 (86)55 (92)
    Alive without HSCT at 2 mo212 (85)55 (92)
    NAD* at 2 mo (without HSCT)122/207 (59)37/54 (69)
    Alive or HSCT at 6 mo196/248 (79)50 (83)
    Alive without HSCT at 6 mo136/188 (72)30/40 (75)
HSCT performed124 (50)44 (73)
    Off therapy, no HSCT49 (20)0
Sequelae in survivors(n = 135)(n = 29)
    Neurological25 (19)9 (31)
    Non-neurological21/132 (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.