Table 1.
Baseline characteristics of participants with Gaucher disease (GD) with or without polyclonal gammopathy (PG) or monoclonal gammopathy (MG).
| Population 1 (n = 278) (All Cohort) |
Population 2 (n = 235) |
Population 3 (n = 187) (At Least One Determination of Presence or Absence of MG) |
|||
|---|---|---|---|---|---|
| (At Least One Gammaglobulin Determination) | |||||
| PG– | PG+ | MG– | MG+ | ||
| Characteristics at GD diagnosis | n = 278 | n = 123 | n = 112 | n = 128 | n = 59 |
| Sex = male, n (%) | 132 (47.5) | 62 (50.4) | 47 (42.0) | 59 (46.1) | 31 (52.5) |
| Age at GD diagnosis, years, n (%) | 24.4 (18.3) | 24.1 (19.8) | 22.0 (15.2) | 22.6 (15.2) | 37.2 (18.5) |
| >30 years old | 91 (32.7) | 43 (35.0) | 28 (25.0) | 37 (28.9) | 36 (61.0) |
| Phenotype, n (%) | |||||
| type 1 GD | 262 (94.2) | 113 (91.9) | 106 (94.6) | 123 (96.1) | 59 (100) |
| type 2 GD | 3 (1.1) | 3 (2.4) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
| type 3 GD | 13 (4.7) | 7 (5.7) | 6 (5.4) | 5 (3.9) | 0 (0.0) |
| Genotype, n (%) | |||||
| p.Asn409Ser/p.Asn409Ser | 29 (10.4) | 14 (11.4) | 15 (13.4) | 18 (14.1) | 6 (10.2) |
| p.Asn409Ser/p.Leu483Pro | 45 (16.2) | 15 (12.2) | 20 (17.9) | 26 (20.3) | 9 (15.3) |
| p.Leu483Pro/p.Leu483Pro | 5 (1.8) | 2 (1.6) | 3 (2.7) | 2 (1.6) | 0 (0.0) |
| p.Asn409Ser/other | 68 (24.5) | 41 (33.3) | 21 (18.8) | 31 (24.2) | 16 (27.1) |
| p.Leu483Pro/other | 9 (3.2) | 4 (3.3) | 3 (2.7) | 6 (4.7) | 1 (1.7) |
| NA | 122 (43.9) | 47 (38.2) | 50 (44.6) | 45 (35.2) | 27 (45.8) |
| Splenomegaly at GD diagnosis, n (%) | |||||
| No | 58 (20.9) | 11 (8.9) | 9 (8.0) | 11 (8.6) | 3 (5.1) |
| Yes | 129 (46.4) | 89 (72.4) | 79 (70.5) | 91 (71.1) | 35 (59.3) |
| NA | 64 (23.0) | 23 (18.7) | 24 (21.4) | 26 (20.3) | 21 (35.6) |
| Hepatomegaly at GD diagnosis, n (%) | |||||
| No | 58 (20.9) | 30 (24.4) | 18 (16.1) | 34 (26.6) | 7 (11.9) |
| Yes | 129 (46.4) | 58 (47.2) | 57 (50.9) | 57 (44.5) | 25 (42.4) |
| NA | 91 (32.7) | 35 (28.5) | 37 (33.0) | 37 (28.9) | 27 (45.8) |
| Anemia at GD diagnosis, n (%) | |||||
| No | 131 (47.1) | 73 (59.3) | 39 (34.8) | 68 (53.1) | 28 (47.5) |
| Yes | 37 (13.3) | 12 (9.8) | 20 (17.9) | 15 (11.7) | 6 (10.2) |
| NA | 110 (39.6) | 38 (30.9) | 53 (47.3) | 45 (35.2) | 25 (42.4) |
| Thrombocytopenia at diagnosis, n (%) | |||||
| No | 84 (30.2) | 43 (35.0) | 26 (23.2) | 44 (34.4) | 14 (23.7) |
| Yes | 105 (37.8) | 51 (41.5) | 39 (34.8) | 47 (36.7) | 24 (40.7) |
| NA | 89 (32.0) | 29 (23.6) | 47 (42.0) | 37 (28.9) | 21 (35.6) |
| Characteristics during follow-up, | |||||
| Splenectomy, n (%) | 69 (24.8) | 15 (12.2) | 42 (37.5) | 24 (18.8) | 22 (37.3) |
| ERT/SRT, n (%) | 228 (82.0) | 101 (82.1) | 97 (86.6) | 102 (79.7) | 49 (83.1) |
Results are expressed are number (%) for categorical variables. GD: Gaucher disease; NA: not available; ERT: enzyme replacement therapy; SRT: substrate reduction therapy.