Table 2.
GD clinical, biological and imaging characteristics at specific times for 247 recently treated (2009–2010) 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) |
US ultrasound, MRI magnetic resonance imaging.
*Data from 31 patients were used at diagnosis and at ERT/SRT onset.
†Splenomegaly in non-splenectomized patients.