From: Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
 | Whole cohort (%) | Diagnosed (%) | With no diagnosis (%) |
---|---|---|---|
Number of patients | 58 | 22 | 36 |
Age at diagnosis, years | |||
 0–1 | 20 of 57 (35) | 13 of 22 (59) | 7 of 35 (20) |
 1–5 | 12 of 57 (21) | 4 of 22 (18) | 8 of 35 (23) |
 5–12 | 9 of 57 (16) | 4 of 22 (18) | 5 of 35 (14) |
 12–18 | 8 of 57 (14) | 1 of 22 (5) | 7 of 35 (20) |
 18+ | 8 of 57 (14) | 0 of 22 (0) | 8 of 35 (23) |
Sex | |||
 Male | 28 of 58 (48) | 10(45) | 18 (50) |
 Female | 30 of 58 (52) | 12(55) | 18 50) |
Parental consanguinity | 24 of 52 (46) | 14 of 21 (67) | 10 of 31 (31) |
Familial history of disease | 8 of 50 (16) | 4 of 8 (50)a | 4 of 8 (50)a |
Albinism | 6 of 43 (14) | 5 of 6 (83)a | 1 of 6 (17) |
Fever | 49 of 54 (91) | 17 of 20 (85) | 32 of 34 (94) |
Splenomegaly | 55 of 58 (95) | 21 of 22 (95) | 34 of 36 (94) |
Cytopenia (≥2 of 3 lineages) | 42 of 48 (88) | 15 of 17 (88) | 27 of 31 (87) |
 Anemia | 46 of 54 (85) | 19 of 21 (90) | 27 of 33 (82) |
 Thrombocytopenia | 51 of 57 (89) | 19 of 21 (90) | 32 of 36 (89) |
 Neutropenia | 26 of 50 (52) | 12 of 16 (75) | 14 of 34 (41) |
Hypertriglyceridemia (≥3 mmol/L) | 38 of 51 (75) | 13 of 20 (65) | 25 of 31 (81) |
Hypofibrinogenemia (≤1 g/L) | 18 of 50 (36) | 7 of 18 (39) | 11 of 32 (34) |
Hypertriglyceridemia and/or hypofibrinogenemia | 46 of 50 (92) | 17 of 19 (89) | 29 of 31 (94) |
Hemophagocytosis | 43 of 49 (88) | 14 of 17 (82) | 29 of 32 (91) |
Hyperferritinemia (≥500 mg/L) | 54 of 55 (98) | 19 of 20 (95) | 35 of 35 (100) |
Elevated sCD25 (≥2400 U/ml) | 7 of 7 (100) | 0 of 0 | 7 of 7 (100) |