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Table 2 Bone manifestations and radiological characteristics of the GAUCHERITE cohort and subgroups at recruitment

From: In-depth phenotyping for clinical stratification of Gaucher disease

Variables

Categories*

Entire cohort (N = 250) [%]

Children

(N = 26) [%]

Adults

(N = 224) [%]

Gaucher Type 1 (N = 223) [%]

Gaucher Type 3 (N = 27) [%]

History of Fragility fracture

Yes

37 [15]

–

37 [17]

29 [13]

8 [30]

1 fracture

22

–

22

17

5

 > 1 fracture

15

–

15

12

3

Age at 1st event, years, mean ± SD

38 ± 19

–

38 ± 19

42 ± 18

23 ± 16

Median (range)

36 (4–78)

–

36 (4–78)

44 (13–78)

20 (4–50)

No

213 [85]

26 [100]

187 [83]

194 [87]

19 [70]

Fracture site

Spine

24

–

24

20

4

Hip/Femur

23

–

23

15

8

Ribs

12

–

12

10

2

Wrist

5

–

5

4

1

Other bones

15

–

15

14

1

History of Symptomatic Osteonecrosis

Yes

76 [30]

–

76 [34]

70 [31]

6 [22]

1 event

43

–

43

39

4

 ≥ 2 events

33

–

33

31

2

Mean age ± SD at 1st event, years

26 ± 16

–

26 ± 16

26 ± 16

14 ± 2

Median age (range)

22 (4–64)

–

22 (4–64)

22 (4–64)

14 (12–16)

Age unknown

4

–

4

2

1

No

174 [70]

26 [100]

148 [66]

153 [69]

21 [78]

Symptoms of

Osteonecrosis event

Yes

76 [30]

–

76 [34]

70 [31]

6 [22]

Classical acute bone crisis

30

–

30

27

3

Pain

45

–

45

42

3

Symptomatic, other than pain

1

–

1

1

–

Presence of bone/joint pain

Yes

131 52]

4 [15]

127 [57]

118 [53]

13 [48]

Continuous/chronic

31

–

31

27

4

Frequently

34

1

33

31

3

Occasional

41

3

38

37

4

Pain periodicity not recorded

25

–

25

23

2

No

70 [28]

13 [50]

57 [25]

61 [27]

9 [33]

Unknown

49 [20]

9 [35]

40 [18]

44 [20]

5 [19]

Severity of bone/joint pain (GD1–DS3 score)

Yes

129 [52]

4 [15]

125 [56]

116 [52]

13 [48]

Extreme

2

–

2

2

–

Severe

14

–

14

13

1

Moderate

47

1

46

41

6

Mild

41

1

40

39

2

Pain severity not recorded

25

2

23

21

4

Unknown

121 [48]

22 [85]

99 [44]

107 [48]

14 [52]

Lytic lesions

Yes

13 [5]

–

13 [6]

11 [5]

2 [7]

No

237 [95]

26 [100]

211 [94]

212 [95]

25 [93]

Osteoarthritis

Yes

105 [42]

–

105 47]

100 [45]

5 [19]

No

145 [58]

26 [100]

119 [53]

123 55]

22 [81]

Orthopaedic procedure

Yes

62 [25]

–

62 [28]

55 [25]

7 [26]

No

188[75]

26 [100]

162 [72]

168 [75]

20 [74]

DXA

Spine

Number available

189

15

174

171

18

BMD, g/cm2, mean ± SD

0.984 ± 0.150

0.836 ± 0.189

0.997 ± 1.139

0.989 ± 0.144

0.937 ± 0.196

Median (range)

0.982 (0.547–1.446)

0.759 (0.547–1.151)

0.986 (0.695–1.446)

0.982 (0.603–1.446)

0.989 (0.547–1.248)

Total Hip

Number

165

3

162

152

13

BMD, g/cm2, mean ± SD

0.930 ± 0.153

0.716 ± 0.133

0.935 ± 0.151

0.934 ± 0.153

0.892 ± 0.159

Median (range)

0.924 (0.600–1.276)

0.687 (0.600–0.861)

0.926 (0.607–1.276)

0.923 (0.607–1.276)

0.874 (0.600–1.253)

Femoral Neck

Number

165

3

162

152

13

BMD, g/cm2, mean ± SD

0.813 ± 0.152

0.615 ± 0.120

0.816 ± 0.151

0.814 ± 0.153

0.793 ± 0.152

Median (range)

0.801 (0.464–1.360)

0.640 (0.485–0.719)

0.804 (0.464–1.360)

0.804 (0.464–1.360)

0.789 (0.485–1.061)

Forearm

Number

77

–

77

70

7

BMD, g/cm2, mean ± SD

0.658 ± 0.103

–

0.658 ± 0.103

0.660 ± 0.104

0.644 ± 0.090

Median (range)

0.653 (0.458–0.871)

–

0.653 (0.458–0.871)

0.654 (0.458–0.871)

0.632 (0.513–0.778)

  1. BMD bone mineral density, DXA Dual-energy X-ray absorptiometry, GD1-DS3 Gaucher disease type 1 severity scoring system, SD standard deviation
  2. *Categorical variables are expressed as frequency [percent]. Continuous variables are expressed as mean ± SD and median (range)