Characteristics of patients with the FHL2, FHL3, and non-FHL2/FHL3 subtypes of familial hemophagocytic lymphohistiocytosis
Category . | No. patients with FHL2, n = 11 . | No. patients with FHL3, n = 8 . | No. patients with non-FHL2/FHL3, n = 16 . | P* . |
|---|---|---|---|---|
| Age at diagnosis | .007 | |||
| 0-3 mo | 8 | 2 | 6 | |
| 4-11 mo | 0 | 6 | 5 | |
| 1-14 y | 3 | 0 | 5 | |
| Family history | .513 | |||
| Positive | 5 | 5 | 6 | |
| Negative | 6 | 3 | 10 | |
| CNS involvement† | .713 | |||
| Positive | 7 | 5 | 10 | |
| Negative | 4 | 3 | 3 | |
| Unknown | 0 | 0 | 2 | |
| NK cell activity‡ | .247 | |||
| 0%-5% | 9 | 3 | 7 | |
| 6%-17% | 0 | 2 | 3 | |
| 18%-40% | 0 | 2 | 3 | |
| Unknown | 2 | 1 | 3 | |
| Genetic mutation | ||||
| Nonsense/nonsense | 7 | 0 | 0 | |
| Nonsense/missense | 1 | 0 | 0 | |
| Missense/missense | 3 | 0 | 0 | |
| Donor site/donor site | 0 | 1 | 0 | |
| Donor site/acceptor site | 0 | 2 | 0 | |
| Acceptor site/acceptor site | 0 | 2 | 0 | |
| Donor site/nonsense | 0 | 2 | 0 | |
| Acceptor site/nonsense | 0 | 1 | 0 | |
| Chemotherapy | .199 | |||
| HLH-94 protocol | 5 | 7 | 9 | |
| Various regimens | 6 | 1 | 7 | |
| Outcome | .292 | |||
| Alive with HSCT | 5 | 4 | 8 | |
| Alive without HSCT | 1 | 0 | 4 | |
| Dead with HSCT | 3 | 2 | 0 | |
| Dead without HSCT | 2 | 2 | 4 |
Category . | No. patients with FHL2, n = 11 . | No. patients with FHL3, n = 8 . | No. patients with non-FHL2/FHL3, n = 16 . | P* . |
|---|---|---|---|---|
| Age at diagnosis | .007 | |||
| 0-3 mo | 8 | 2 | 6 | |
| 4-11 mo | 0 | 6 | 5 | |
| 1-14 y | 3 | 0 | 5 | |
| Family history | .513 | |||
| Positive | 5 | 5 | 6 | |
| Negative | 6 | 3 | 10 | |
| CNS involvement† | .713 | |||
| Positive | 7 | 5 | 10 | |
| Negative | 4 | 3 | 3 | |
| Unknown | 0 | 0 | 2 | |
| NK cell activity‡ | .247 | |||
| 0%-5% | 9 | 3 | 7 | |
| 6%-17% | 0 | 2 | 3 | |
| 18%-40% | 0 | 2 | 3 | |
| Unknown | 2 | 1 | 3 | |
| Genetic mutation | ||||
| Nonsense/nonsense | 7 | 0 | 0 | |
| Nonsense/missense | 1 | 0 | 0 | |
| Missense/missense | 3 | 0 | 0 | |
| Donor site/donor site | 0 | 1 | 0 | |
| Donor site/acceptor site | 0 | 2 | 0 | |
| Acceptor site/acceptor site | 0 | 2 | 0 | |
| Donor site/nonsense | 0 | 2 | 0 | |
| Acceptor site/nonsense | 0 | 1 | 0 | |
| Chemotherapy | .199 | |||
| HLH-94 protocol | 5 | 7 | 9 | |
| Various regimens | 6 | 1 | 7 | |
| Outcome | .292 | |||
| Alive with HSCT | 5 | 4 | 8 | |
| Alive without HSCT | 1 | 0 | 4 | |
| Dead with HSCT | 3 | 2 | 0 | |
| Dead without HSCT | 2 | 2 | 4 |
CNS indicates central nervous system; NK, natural killer; nonsense, nonsense mutation including frameshift; missense, missense mutation; donor site, splice-donor site; acceptor site, splice-acceptor site; and HSCT, allogeneic hematopoietic stem cell transplantation.
The Fisher exact test was used to determine the global P value for all 3 subgroups. By the Bonferroni test, patients with FHL2 had an earlier age at onset by comparison with either of the remaining subgroups (P < .01)
Defined by neurologic symptoms and/or pleocytosis in cerebrospinal fluid
NK cell activity measured at diagnosis and defined as deficient (≤ 5%), moderately decreased (6%-17%), or normal (18%-40%)