Table 2.

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

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)

BMD bone mineral density, DXA Dual-energy X-ray absorptiometry, GD1-DS3 Gaucher disease type 1 severity scoring system, SD standard deviation

*Categorical variables are expressed as frequency [percent]. Continuous variables are expressed as mean ± SD and median (range)