Table 4.

Other manifestations of the GAUCHERITE cohort and subgroups at recruitment

Variables	Categories*	Entire cohort (N = 250) [%]	Children (N = 26) [%]	Adults (N = 224) [%]	Gaucher Type 1 (N = 223) [%]	Gaucher Type 3 (N = 27) [%]
Gallstones	Yes	79 [32]	1 [4]	78 [35]	75 34]	4 [15]
	Age at diagnosis, years, mean ± SD	41 ± 13	16 ± 0	42 ± 12	42 ± 12	35 ± 19
	Median (range)	40 (11–66)	16 (16)	40 (11–66)	40 (11–66)	35 (16–55)
	Age unknown	5	–	5	5	–
	No	171 [68]	25 [96]	146 [65]	148 [66]	23 [85]
Path to diagnosis of gallstones	Incidental	43 [54]	1 [100]	42 [54]	40 [53]	3 75]
	Symptoms prompted investigations	32 [41]	–	32 [41]	31 [41.5]	1 [25]
	Unknown	4 [5]	–	4 [5]	4 [5.5]	–
Cholecystectomy	Yes	37 [15]	1 4]	36 [16]	35 [16]	2 [7]
	Age at cholecystectomy, years,	39 ± 13	16 ± 0	39 ± 12	39 ± 12	35 ± 28
	mean ± SD
	Median (range)	37 (16–69)	16	37 (18–69)	37 (18–69)	35 (16–55)
	Missing age	1	–	1	1	–
	No	213 [85]	25 [96]	188 [84]	188 [84]	25 [93]
Cancer	Yes	23 [9]	–	23 [10]	23 [10]	–
	Haematological	4	–	4 (17%)	4 (17%)	–
	Non-haematological	19	–	19 (83%)	19 (83%)	–
	Age at diagnosis, years, mean ± SD	59 ± 15	–	58 ± 15	59 ± 15	–
	Median (range)	62 (18–83)	–	62 (18–83)	62 (18–83)	–
	No	227 [91]	26 [100]	201 [90]	200 [90]	27 [100]
Hepatic Disease	Yes	14 [6]	–	14 [6]	9 [4]	5 [19]
	Age at diagnosis, years, mean ± SD	40 ± 17	–	40 ± 17	47 ± 12	27 ± 18
	Median (range)	41 (6–75)	–	41 (6–75)	45 (37–75)	24 (6–55)
	No	236 [94]	26 [100]	210 [94]	214 [96]	22 [81]
Pulmonary disease	Yes	29 12]	8 31]	21 [9]	7 [3]	22 [81.5]
	Age at diagnosis, years, mean ± SD	19 ± 22	5 ± 2	24 ± 24	39 ± 28	12 ± 15
	Median (range)	8 (1–72)	5 (2–9)	14 (1–72)	51 (4–72)	6 (1–57)
	No	221 [88]	18 [69]	203 [91]	216 [97]	5 [18.5]

SD standard deviation

*Continuous variables are expressed as mean ± SD and median (range)