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

Table 3 Splenectomy status, mean age at diagnosis, and pre-treatment bone complications (avascular necrosis, fractures, lytic lesions) and mean baseline DS3 score by genotype categories

Genotype (N)	Splenectomy*	Pre-treatment* bone events	Mean (SD) age at diagnosis (y)	Mean (SD) baseline DS3 score
N370S/N370S (52)	6 (11.5 %)^€	12 (23.1 %)	42 (17)	4.33 (2.30)
N370S/L444P (24)	7 (29.2 %)^€	8 (33.3 %)	22 (15)^§	6.08 (2.49)^§
N370S/other (42)	19 (45.2 %)^€	25 (59.5 %)	20 (18)^§	6.68 (2.47)^§
Other/other (9)	7 (77.8 %)^€	6 (66.7 %)	20 (20)^§	7.17 (2.32)^§
Unknown (6)	0	2 (33.3 %)	36 (28)	4.77 (1.57)

*Of 53 patients with pre-treatment bone events, 25 (47.1 %) had intact spleens and 28 (52.9 %) had splenectomies. Of the 12 N370s homozygotes with pre-treatment bone events, 8 had intact spleens and 4 had splenectomy
^€Splenectomy probabilities: Exact test: P = 0.0082, including unknown patients; P = 0.0074, excluding unknown patients
^§Two-tailed t-test
Mean baseline DS3 score
Mean age at diagnosis
N370S/N370S v N370S/L444P: P = 0.0041
N370S/N370S v N370S/L444P: P < 0.0001
N370S/N370S v N370S/other: P < 0.0001
N370S/N370S v N370S/other: P < 0.0001
N370S/N370S v other/other: P = 0.0012
N370S/N370S v N370S/other: P = 0.0009

ISSN: 1750-1172