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Table 1 Clinical 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) [%]

Gender

Male

128 [51]

13 [50]

115 [51]

120 [54]

8 [30]

Female

122 [49]

13 [50]

109 [49]

103 [46]

19 [70]

Recruitment age (y)

Mean age ± SD

44 ± 19

11 ± 4

48 ± 16

46 ± 18

26 ± 16

Median (range)

46 (5–87)

11 (5–17.8)

49 (18.7–87)

48 (5–87)

23 (5–60)

Jewish descent

Yes

43 [17]

1 [4]

42 [19]

43 [19]

–

No

207 [83]

25 [96]

182 [81]

180 [81]

27 [100]

Consanguinity

Yes

18 [7]

2 [8]

16 [7]

9 [4]

9 [33]

No

232 [93]

24 [92]

208 [93]

214 [96]

18 [67]

Age at symptom onset (y)

Mean age ± SD

16 ± 15

3 ± 2

18 ± 15

18 ± 15

3 ± 4

Median (range)

11 (0–72)

2 (0–8)

13 (0–72)

13 (0–72)

1 (0–16)

No symptoms

13

–

13

12

1

Unknown

5

–

5

4

1

First symptoms

Enlarged abdomen

37 [15]

6 [23]

31 [14]

28 [12.5]

9 [33]

Enlarged abdomen plus other symptoms

67 [27]

8 [31]

59 [26]

56 [25]

11 [40]

Easy bleeding/bruising

34 [14]

1[4]

33 [15]

34 [15]

–

Easy bleeding/bruising plus other symptoms

36 [14]

4 [15]

32 [14]

35 [16]

1 [4]

Fatigue

9 [4]

–

9 [4]

9 [4]

–

Fatigue plus other symptoms

6 [2]

–

6 [3]

6 [3]

–

Bone disease

15 [6]

–

15 [7]

15 [7]

–

Other non-classical GD symptoms

32 [13]

7 [27]

25 [11]

28 [12.5]

4 [15]

No symptoms

13 [5]

–

13 [6]

12 [5]

1 [4]

Unknown

1 [< 1]

–

1 [< 1]

–

1 [4]

Presentation age (y)

Mean age ± SD

18 ± 16

3 ± 2

20 ± 16

20 ± 16

3 ± 4

Median (range)

13 (0–72)

2 (0–8)

16 (0–72)

16 (0–72)

2 (0–16)

Missing age

2

–

2

1

1

Age at diagnosis (y)

Mean age ± SD

21 ± 17

4 ± 3

23 ± 17

23 ± 17

3 ± 4

Median (range)

16 (0–73)

3 (1–10)

20 (0–73)

20 (0–73)

2 (0–16)

Diagnostic pathway

Enzyme assay

21 [8]

7 [27]

14 [6]

17 [8]

4 [15]

GBA-gene sequencing

23 [9]

1 [4]

22 [10]

23 [10]

–

Bone marrow histology

71 [29]

3 [11]

68 [30]

68 [30]

3 [11]

Liver histology

12 [5]

2 [8]

10 [5]

11 [5]

1 [4]

Spleen histology

11 [4]

–

11 [5]

9 [4]

2 [7]

Other histology

1 [< 1]

–

1 [< 1]

1 [< 1]

–

Combination of these methods

105 [42]

13 [50]

92 [41]

89 [40]

16 [59]

Clinical history

5 [2]

–

5 [2]

5 [2]

–

Unknown

1 [< 1]

–

1 [< 1]

–

1 [4]

Parkinson disease

Yes

7 [3]

–

7 [3]

7 [3]

–

Age at diagnosis, years, mean ± SD

54 ± 12

–

54 ± 12

54 ± 12

–

Median (range)

52 (35–70)

–

52 (35–70)

52 (35–70)

–

No

243 [97]

26 [100]

217 [97]

216 [97]

27 [100]

Family history of Parkinson/dementia

Yes

85 [34]

4 [15]

81 [36]

76 [34]

9 [33]

No

165 [66]

22 [85]

143 [64]

147 [66]

18 [67]

GBA1 Genotypes

N370S/N370S

33

–

33

33

–

L444P/L444P

20

6

14

–

20

R463C/R463C

2

–

2

2

–

W184R/W184R

1

–

1

1

–

N370S/L444P

38

–

38

38

–

N370S/other

106

11

95

106

–

L444P/R463C

12

2

10

11

1

L444P/other

7

2

5

4

3

R463C/other

15

2

13

13

2

Other /other

14

2

12

13

1

Unknown/NA*

* heterozygous PSAP mutations

2

1

1

2

–

Failure to thrive in childhood

Yes

65 [26]

–

65 [29]

56 [25]

9 [33]

No

141 [56]

–

141 [63]

134 [60]

7 [26]

Unknown/NA

44 [18]

26 [100]

18 [8]

33 [15]

11 [41]

Considered shorter than school peers

Yes

86 [35]

–

86 [38]

77 [34.5]

9 [33]

No

123 [49]

–

123 [55]

116 [52]

7 [26]

Unknown/NA

41 [16]

26 [100]

15 [7]

30 [13.5]

11 [41]

Considered themselves underweight

Yes

71 [29]

–

71 [32]

64 [29]

7 [26]

No

138 [55]

–

138 [61]

129 [58]

9 [33]

Unknown/NA

41 [16]

26 [100]

15 [7]

30 [13]

11 [41]

Delayed puberty

Yes

54 [22]

–

54 [24]

49 [22]

5 [18]

No

148 [59]

–

148 [66]

137 [61]

11 [41]

Unknown/NA

48 19]

26 [100]

22 10]

37 [17]

11 [41]

Onset of regular shaving/menses, N

Male

101 [79]

–

101 [88]

96 [80]

5 [63]

Years, mean age ± SD

17 ± 2

–

17 ± 2

17 ± 2

20 ± 4

Median (range)

16 (9–26)

–

16 (9–26)

16 (9–23)

18 (16–26)

Missing/NA

27

13

14

24

3

 

Female

100 [82]

–

100 [92]

89 [86]

11 [58]

Years, mean age ± SD

14 ± 2

–

14 ± 2

14 ± 2

13 ± 2

Median (range)

14 (6–19)

–

14 (6–19)

14 (6–19)

13 (11–16)

Missing/NA

22

13

9

14

8

Menopause, N

Yes

51 [42]

–

51 [47]

48 [47]

3 [16]

Age occurred years mean ± SD

46 ± 7

–

46 ± 7

46 ± 7

39 ± 10

Median age (range)

47 (26–58)

–

47 (26–58)

47 (26–58)

36 (31–51)

HRT status

Yes

20 [39]

–

20 [39]

18 [38]

2 [67]

No

29 57]

–

29 [57]

28 [58]

1 [33]

Missing

2

–

2

2

–

  1. HRT hormone replacement therapy, NA not applicable, SD standard deviation
  2. *Categorical variables are expressed as frequency [percent]. Continuous variables are expressed as mean ± SD and median (range)