Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)

Table 4 Characteristics of treatment response sub-groups defined by baseline DS3 score (mild: 0-0.299, moderate: 3.00-5.99, marked:* 6.00-19.00)

Characteristics	Mild (n = 22)	Moderate (n = 53)	Marked (n = 58)
Baseline DS3 (mean (SD)*	2.03 (0.82)	4.43 (0.92)	8.03 (1.49)
Splenectomy: N (%)	0	8 (15.1)^§	31 (53.4)^§§
Age (y) at diagnosis
Median (Range)	40.5 (1-71)	32.0 (4-85)	18.5 (0-68)
Age (y) at 1^st treatment
Median (Range)	44.5 (9-73)	50.0 (6-87)	44.5 (7-69)
Genotype**
N370S/N370S (N = 52)	15 (28.8 %)	26 (50.0 %)	11 (21.2 %)
N370S/L444P (N = 24)	3 (12.5 %)	8 (33.3 %)	13 (54.2 %)
N370S/other (N = 42)	3 (7.1 %)	13 (31.0 %)	26 (61.9 %)
Other/Other (N = 9)	0	2 (22.2 %)	7 (77.8 %)
Unknown (N = 6)	1 (16.7 %)	4 (66.6 %)	1 (16.7 %)

*DS3 scores >10.0 were found in only 3 patients and no baseline DS3 score exceeded 14.9. Mean DS3 score (two-tailed t-test): Marked v Moderate: P < 0.0001; Mild v Moderate: P < 0.0001
^§The DS3 score exceeded 4.33 in 7 of the 8 patients
^§§20 of 29 patients (69.0 %) with a baseline DS3 ≥ 8.00
**Percentages refer to the genotype category

ISSN: 1750-1172