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Table 3 Clinical characteristics of HLH patients included in the prospective cohort

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)
  1. aShown as the proportion of patients with documented familial disease and albinism, respectively