Table 1.
Baseline characteristics of the FGDR cohort, and subgroups with any follow-up, recent follow-up or treatment
|
Baseline characteristic |
Entire cohort |
Followed patients |
Recently seen patients |
Recently treated patients |
||||
|---|---|---|---|---|---|---|---|---|
|
(n=562) |
(n=378) |
(n=283) |
(n=247) |
|||||
| No.* | Value | No.* | Value | No.* | Value | No. | Value | |
| Sex, n (%) |
562 |
|
378 |
|
283 |
|
247 |
|
| Female |
|
265 (49.6) |
|
182 (48.1) |
|
144 (50.9) |
|
121 (49) |
| Male |
|
269 (50.4) |
|
196 (51.9) |
|
139 (49.1) |
|
126 (51) |
| Fetuses |
|
28 |
|
|
|
|
|
|
| Age, years, median (range) [IQR] |
|
|
|
|
|
|
|
|
| First symptom(s) |
238 |
15 (0–77) [5;30] |
227 |
15 (0–77) [5;30] |
182 |
15 (0–62) [5;30] |
162 |
15 (0–62) [5;29] |
| Diagnosis (without fetuses) |
534 |
22 (0–83.8) [5.8;38.9] |
378 |
21.9 (0–80.5) [6.8;36.2] |
283 |
22.6 (0.2–67.5) [8.4;35.1] |
247 |
22.1 (0.5–67.5) [8.7;37.7] |
| Patients diagnosed before 1991, n (%) |
562 |
261 (46.4) |
378 |
181 (47.9) |
283 |
131 (46.3) |
247 |
122 (49.4) |
| Patients ≤15 years old at diagnosis, n (%) |
562 |
245 (43.6) |
378 |
147 (38.9) |
283 |
102 (36.0) |
247 |
125 (50.6) |
| 1st symptom-to-diagnosis interval, years, median (range) |
238 |
1 (0–56) |
227 |
1 (0–56) |
182 |
1 (0–56) |
162 |
1 (0–56) |
| First symptoms, n (%)† |
232 |
|
216 |
|
169 |
|
143 |
|
| Splenomegaly |
|
163 (70.3) |
|
155 (71.8) |
|
120 (71) |
|
109 (38.9) |
| Hepatomegaly |
|
51 (22) |
|
46 (21.3) |
|
35 (20.7) |
|
33 (11.8) |
| Thrombocytopenia |
|
114 (49.1) |
|
107 (49.5) |
|
88 (52.1) |
|
76 (27.1) |
| Bone crisis |
|
8 (3.4) |
|
8 (3.7) |
|
6 (3.6) |
|
6 (2.1) |
| Chronic bone pain |
|
16 (6.9) |
|
15 (6.9) |
|
13 (7.7) |
|
13 (4.6) |
| Other |
|
82 (35.3) |
|
73 (33.8) |
|
53 (31.4) |
|
43 (15.5) |
| Test diagnosing GD, n (%)‡ |
245 |
|
233 |
|
189 |
|
162 |
|
| Enzyme assay |
|
61 (24.9) |
|
53 (22.7) |
|
48 (25.4) |
|
36 (22.2) |
| GBA-gene sequencing |
|
1 (0.4) |
|
1 (0.4) |
|
1 (0.5) |
|
1 (0.6) |
| Bone-marrow aspiration |
|
118 (48.2) |
|
115 (49.4) |
|
93 (49.2) |
|
83 (51.3) |
| Bone-marrow biopsy |
|
16 (6.5) |
|
16 (6.9) |
|
13 (6.9) |
|
13 (8) |
| Bone biopsy |
|
5 (2.0) |
|
5 (2.1) |
|
5 (2.6) |
|
5 (3.1) |
| Hepatic biopsy |
|
9 (3.7) |
|
8 (3.4) |
|
6 (3.2) |
|
4 (2.5) |
| Spleen histology |
|
33 (13.5) |
|
33 (14.2) |
|
21 (11.1) |
|
18 (11.1) |
| Other |
|
2 (0.8) |
|
2 (0.9) |
|
2 (1.1) |
|
2 (1.2) |
| Type, n (%) |
536 |
|
378 |
|
283 |
|
247 |
|
| 1 |
|
454 (84.7) |
|
348 (92.0) |
|
274 (96.8) |
|
239 (96.8) |
| 2 |
|
61 (11.4) |
|
15 (4) |
|
1 (0.4) |
|
|
| 3 |
|
21 (3.9) |
|
15 (4) |
|
8 (2.8) |
|
8 (3.2) |
| Genotype, n (%) |
261 |
|
229 |
|
172 |
|
155 |
|
| p.N370S/p.N370S |
|
39 (15.0) |
|
34 (14.8) |
|
28 (16.3) |
|
24 (15.5) |
| p.N370S/p.L444P |
|
41 (15.7) |
|
37 (16.2) |
|
31 (18.0) |
|
27 (17.4) |
| p.L444P/p.L444P |
|
17 (6.5) |
|
11 (4.8) |
|
4 (2.3) |
|
4 (2.6) |
| p.N370S/other |
|
123 (47.1) |
|
114 (49.8) |
|
86 (50) |
|
77 (49.7) |
| p.L444P/other |
|
24 (9.2) |
|
17 (7.4) |
|
9 (5.2 ) |
|
9 (5.8) |
| Other/other |
|
17 (6.5) |
|
16 (7) |
|
14 (8.2) |
|
14 (9) |
| Affected family, n | 562 | 161 | 378 | 130 | 283 | 108 | 247 | 94 |
Note that recent refers to 2009–2010, i.e., the last 2 years. GBA glucosidase-β acid.
*No. represents the number of patients with available information.
†Several symptoms for each patient.
‡All patients had their definitive diagnoses confirmed by enzymatic assay.