| Journal of Hematology, ISSN 1927-1212 print, 1927-1220 online, Open Access |
| Article copyright, the authors; Journal compilation copyright, J Hematol and Elmer Press Inc |
| Journal website http://www.thejh.org |
Short Communication
Volume 8, Number 3, September 2019, pages 121-124
Coagulation Parameters in Adult Patients With Type-1 Gaucher Disease
Tables
| Total (N = 43) | Splenectomized (N = 13) | Non-splenectomized (N = 30) | |
|---|---|---|---|
| GD1: type-1 Gaucher disease; ERT: enzyme replacement therapy; SRT: substrate reduction therapy. | |||
| Male, n (%) | 26 (60%) | 7 (54%) | 19 (63%) |
| Median age at diagnosis (min. - max.) (years) | 29 (2 - 62) | 29 (8 - 62) | 30.5 (2 - 59) |
| Median age at inclusion (min. - max.) (years) | 52 (18 - 83) | 62 (18 - 83) | 52 (25 - 80) |
| Splenectomy, n (%) | 13 (30%) | 13 | 0 |
| Treatment, n (%) | 38 (88%) | 12 (92%) | 26 (87%) |
| ERT | 36 | 12 | 24 |
| SRT | 2 | 0 | 2 |
| Genotype, n (%) | 23 (53%) | 4 (31%) | 19 (63%) |
| Compound heterozygous (N370S/other) | 16 | 3 | 13 |
| N370S homozygous | 6 | 0 | 6 |
| L444P/R463C | 1 | 1 | 0 |
| TP | Fib | II | V | VII | VIII | IX | X | XI | XII | AT | PC | PS | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GD1: type-1 Gaucher disease; N: number of patients tested; P: difference in clotting factor deficit between splenectomized and non-splenectomized cohorts; AT: antithrombin; PC: protein C; PS: protein S. | |||||||||||||
| Normal value | 70 - 100 | 1.5 - 4.0 | 70 - 140 | 70 - 140 | 70 - 120 | 60 - 150 | 60 - 120 | 70 - 150 | 60 - 120 | 60 - 160 | 80 - 120 | 70 - 140 | 70 - 140 |
| Complete cohort (N = 43) | |||||||||||||
| N | 33 | 38 | 26 | 29 | 29 | 25 | 22 | 26 | 25 | 23 | 26 | 26 | 26 |
| % deficit | 12 | 0 | 8 | 31 | 3.4 | 4 | 4.5 | 11.5 | 20 | 13 | 0 | 11.5 | 19 |
| Median (min. - max.) | 90 (58 - 146) | 2.85 (1.9 - 11) | 87 (42 - 112) | 84 (51 - 116) | 94 (19 - 118) | 106 (58 - 239) | 105 (53 - 159) | 83 (20 - 151) | 82 (45 - 155) | 93 (33 - 210) | 100 (83 - 142) | 109 (28 - 151) | 86 (83 - 148) |
| Splenectomized group (N = 13) | |||||||||||||
| N | 10 | 11 | 5 | 8 | 8 | 5 | 5 | 7 | 6 | 5 | 6 | 6 | 6 |
| % deficit | 0 | 0 | 20 | 12.5 | 12.5 | 0 | 20 | 14.3 | 16.7 | 0 | 0 | 16.7 | 16.7 |
| Median (min. - max.) | 97 (76 - 146) | 3.1 (2.1 - 5.2) | 89 (42 - 96) | 100 (64 - 116) | 96 (19 - 118) | 144 (75 - 239) | 93 (53 - 117) | 95 (20 - 151) | 81 (56 - 155) | 101 (68 - 210) | 93 (83 - 110) | 110 (28 - 118) | 95 (38 - 148) |
| Non-splenectomized group (N = 30) | |||||||||||||
| N | 23 | 27 | 21 | 21 | 21 | 20 | 17 | 19 | 19 | 18 | 20 | 20 | 20 |
| % deficit | 17.4 | 0 | 4.8 | 38 | 0 | 5 | 0 | 10.5 | 32 | 16.7 | 0 | 10 | 20 |
| Median (min. - max.) | 87 (58 - 114) | 2.6 (1.9 - 11) | 86 (50 - 112) | 81 (51 - 111) | 91 (72 - 108) | 105 (58 - 220) | 107 (76 - 159) | 82 (49 - 122) | 82 (45 - 120) | 91 (33 - 149) | 101 (90 - 142) | 109 (58 - 142) | 89 (43 - 151) |
| P | 0.29 | 1 | 0.35 | 0.37 | 0.3 | 1 | 0.26 | 1 | 0.44 | 1 | 1 | 0.6 | 1 |