From: Chronic pain in Gaucher disease: skeletal or neuropathic origin?
Patient No. | Sex M/F | Age Tx (yrs) | ERT duration (yrs) | Genotype | Bone Pain | Neuropathy pain localisation | NRS 0–10 | Pain quality | DN4 score (0–10) | ||
---|---|---|---|---|---|---|---|---|---|---|---|
Allele 1 | Allele 2 | T0 | Tx | Tx | Tx | Tx | Tx | ||||
1 | F | 35 | 20 | N370S | L444P | N | N | Lower limb | 5 | Cold | 4 |
2 | M | 18 | 0 | N370S | Rec NciI | N | --- | - | 0 | - | 0 |
3 | F | 40 | 17 | N370S | D399N | N | N | - | 0 | - | 0 |
4 | M | 18 | 15 | N370S | D409H | N | N | - | 0 | - | 0 |
5 | M | 54 | 19 | R48W | L444P | J, BC | N | Feet | 5 | Cooling | 4 |
6 | F | 53 | 19 | R48W | L444P | J | N | - | 0 | - | 0 |
7 | F | 35 | 21 | R170P | c.1225-10delC; c.1225-14 T > A | J, BC, PF | H, UL | Toes, feet | 3.5 | Pinprick | 4 |
8 | M | 37 | 21 | R170P | c.1225-10delC; c.1225-14 T > A | J, BC, PF | J | Lower limbs | 3.5 | Tingling | 4 |
9 | F | 32 | 22 | N370S | L444P | J | N | - | 0 | - | 0 |
10 | M | 51 | 17 | N370S | Rec NciI | J, B, BC | N | - | 0 | - | 0 |
11 | F | 42 | 17 | N370S | g.4179_5042conJ03060.1: g.2367_2911 | J, B, UL | N | - | 0 | - | 0 |
12 | M | 42 | 17 | N370S | g.4179_5042conJ03060.1: g.2367_2911 | N | N | Lower limbs | 6 | Tingling | 4 |
13 | M | 63 | 11 | N370S | G202R | B, UL, LL | B | Lower limbs and back | 6 | Cooling | 4 |
14 | M | 27 | 14 | N370S | H255Q + D409H | N | N | - | 0 | - | |
15 | F | 50 | 14 | N370S | V214X | J, BC | N | Distal leg | 7 | Cooling | 4 |
16 | F | 38 | 0 | N370S | H255Q + D409H | N | --- | Distal leg | 5 | Cooling | 5 |
17 | F | 53 | 17 | N370S | N370S | J, UL, LL | N | Lower limbs and back | 8 | Burning | 5 |
18 | F | 44 | 13 | N370S | V214X | N | N | Distal leg | 8 | Burning | 6 |
19 | M | 20 | 13 | N370S | N370S | N | N | - | 0 | - | 2 |
20* | M | 51 | 11 | N370S | W381C | J | N | Distal leg | 5 | Cold pain | 4 |
21 | F | 48 | 18 | N370S | Rec NciI | N | N | Distal leg | 5 | Cold/Burning | 5 |
22 | M | 46 | 19 | N370S | g. − 3091 + 834del3925 | J, BC | J, B | - | 0 | - | 0 |
23 | F | 48 | 20 | N370S | L444P | J, B, BC | N | - | 0 | - | 0 |
24 | F | 54 | 0 | N370S | L444P | N | --- | Lower limbs | 5 | Tingling/Burning | 4 |
25 | M | 35 | 20 | N370S | N370S | N | N | - | 0 | - | 0 |