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Table 2 GD clinical, biological and imaging characteristics at specific times for 247 recently treated (2009–2010) patients

From: The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

Characteristic

No.

At diagnosis

No.

At ERT/SRT onset

No.

At closing date

Years since diagnosis, median (range) [IQR]

247

247

9.2 (0–47) [1.5;17.7]

247

17.6 (0.1–66.2) [9.3;26.2]

Age, years, median (range) [IQR]

247

22.2 (0.5–67.5) [8.7;34.7]

247

36 (1–79) [20.9;48.2]

247

43.4 (3.2–82.4) [29.9;56.7]

Clinical involvement, n (%)*

      

 Pigmentation

184

10 (5.4)

186

14 (7.5)

167

1 (0.6)

 Asthenia

184

84 (45.7)

186

106 (57)

167

44 (26.3)

 Abdominal pain

184

29 (15.8)

186

43 (23.1)

167

8 (4.8)

 Chronic bone pain

184

70 (38.0)

186

79 (42.5)

167

41 (24.6)

 Bone crisis

184

25 (13.6)

186

46 (24.7)

167

12 (7.2)

 Bleeding

184

57 (31)

186

58 (31.2)

167

12 (7.2)

 Neurological sign

184

7 (3.8)

186

14 (7.5)

167

9 (5.4)

 Other

184

11 (6)

186

10 (5.4)

167

42 (25.1)

 Body mass index, kg/m2, median (range)

49

16.6 (13.6–28.1)

78

20.3 (13.6–28.1)

53

22.2 (14.6–34.4)

 Underweight, n (%)

 

31 (62.3)

 

31 (39.7)

 

7 (13.2)

 Normal, n (%)

 

14 (28.6)

 

41 (52.6)

 

35 (66.0)

 Overweight/obese, n (%)

 

4 (8.1)

 

6 (7.7)

 

11 (20.8)

 Liver and spleen*

      

 Splenectomy, n (%)

247

41 (16.6)

247

63 (25.5)

247

65 (26.3)

 Splenomegaly†, n (%)

176

174 (98.9)

129

124 (96.1)

76

42 (55.3)

 Splenic US, median (range) of  largest diameter, cm

54

15.8 (10–32)

86

18.9 (10–41)

44

13.6 (8–24)

 Hepatomegaly, n (%)

146

116 (79.5)

140

118 (84.3)

90

40 (44.4)

 Liver US, (median (range) of  largest diameter, cm

23

15 (8.4–22)

81

17.6 (8.4–37)

34

15 (9–22)

Biological parameter, median (range)†

      

 Hemoglobin (g/dL)

140

11.5 (5.3–18.9)

169

11.7 (5.4–17)

188

13.2 (8–16.4)

 Leukocyte (×103/mm3)

126

4.9 (0.6–15.4)

153

4.8 (0.5–24)

102

5.7 (2.1–14.1)

 Platelet count (×103/mm3)

161

81 (20–420)

185

80 (18–449)

187

160 (18–553)

 Platelets (×103/mm3) without  splenectomy

127

80 (20–246)

137

72 (18–189)

144

139 (18–304)

 Chitotriosidase (nmol/mL/h)

43

8,900 (239–47,500)

71

9,000 (360–85,500)

106

992 (19–53,400)

 TRAP (IU/L)

5

7.1 (1.1–28)

29

10 (4–38)

24

4.5 (1–18.8)

 ACE (IU/L)

17

183 (93–1000)

51

190 (3.4–450)

48

57.5 (12–380)

 Ferritin (ng/L)

36

500 (40–5000)

74

621 (63–3,230)

72

337 (40–2,200)

 Gammaglobulin (g/L)

14

15.8 (9–28.7)

44

15 (6.6–36)

36

12 (5.4–19.9)

Imaging of bone lesions*, n (%)

      

 Erlenmeyer flask

43

9 (20.9)

61

17 (27.9)

50

4 (8)

 Osteopenia

43

6 (14)

61

15 (24.6)

50

4 (8)

 Cortical erosion

43

3 (7)

61

3 (4.9)

50

0

 Lytic lesion

43

4 (9.3)

61

5 (8.2)

50

5 (10)

 Avascular necrosis sequelae

43

6 (14)

61

11 (18.0)

50

4 (8)

 Infarct sequelae

43

6 (14)

61

8 (13.1)

50

2 (4)

 Fracture sequelae

43

0

61

2 (3.3)

50

1 (2)

 Infiltration on MRI

40

31 (77.5)

72

53 (73.6)

80

40 (50)

99mTc-Hyperfixation

31

19 (61.3)

56

42 (75)

41

30 (73.2)

99mTc-Hypofixation

31

5 (16.1)

56

5 (8.9)

41

0

Bone densitometry, median (range)

      

 T-score neck

10

−0.6 (−2.1 to 1.1)

27

−1.4 (−4.2 to 1.4)

28

−0.6 (−2.9 to 4.5)

 T-score lumbar

8

−1.5 (−2.8 to −0.5)

22

−1.8 (−4.2 to 0.8)

29

−0.9 (−3.0 to 6.2)

 Z-score neck

10

−0.8 (−2.1 to 1)

20

−0.8 (−2.1 to 1.9)

26

−0.5 (−2.6 to 4.4)

 Z-score lumbar

7

−1.9 (−3 to 0.3)

15

−1.1 (−3.1 to 0.5)

24

−0.1 (−3.0 to 7.1)

  1. US ultrasound, MRI magnetic resonance imaging.
  2. *Data from 31 patients were used at diagnosis and at ERT/SRT onset.
  3. †Splenomegaly in non-splenectomized patients.