Table 1.
Demographics, mutations, treatment, and signs and symptoms of GD patients. For bone marrow burden: lower limb (LL) and spine (S) score on 8. Düsseldorf Gaucher Score (DGS) score on 8. Non-applicable (N/A); not evaluated (N/E); (x) = sign or symptom observed in GD patient; (-) = sign or symptom not observed in GD patient; female (F); male (M). It should be noted that the samples sent from different hospitals had different evaluation tests and procedures for their respective patients. Moreover, certain tests, such as bone marrow burden, were not assessed for all patients.
| Patient ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age | 62 | 49 | 43 | 62 | 22 | 47 | 49 | 70 | 63 | 71 | 62 | 43 | 70 | 53 | 24 | 44 |
| Gender | F | F | F | F | F | M | F | F | M | M | F | F | F | F | M | F |
| Age at diagnosis | 28 | 40 | 36 | 16 | N/E | 12 | 40 | 42 | 19 | 21 | 3 | 36 | N/E | 44 | 13 | 27 |
| Mutations | N370S N370S | N370S N370S | N370S L444P | N370S N370S | N370S W184 | N370S L444P | N370S N370S | N370S L444P | N370S R120W | N370S W378G | L444P L444P | N370S N370S | N370S L444P | N370S R496H | N370S L444P | L444P 84GG |
| Treatment | No | No | No | No | No | No | No | No | No | No | No | No | No | No | No | No |
| Bone disease | ||||||||||||||||
| Bone pain | - | Mild | Moderate | Mild | - | Moderate | - | - | - | Mild | Moderate | Mild | Moderate | - | - | Mild |
| Bone crisis | - | - | - | - | - | Moderate | - | - | Moderate | - | - | - | - | - | - | - |
| Erlenmeyer flask deformity | x | - | - | - | - | - | - | - | - | x | x | - | - | x | ||
| Bone marrow infiltration | x | x | x | x | - | x | - | - | - | x | - | x | x | - | x | x |
| Osteopenia | - | - | - | - | - | x | - | - | x | x | x | - | x | x | - | - |
| Infarction | - | - | - | - | - | x | - | - | x | - | - | - | x | - | - | x |
| Avascular necrosis | - | - | - | - | - | x | - | - | - | - | - | - | - | - | - | - |
| New fractures | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
| Lytic lesions | x | - | - | - | - | - | - | - | x | - | - | - | - | - | - | - |
| Decreased bone mineral density | - | - | - | - | - | x | - | - | - | x | - | - | - | x | - | - |
| Bone marrow burden | DGS 5 | LL 5 S 6–7 | N/E | LL 4 S 3 | N/E | LL 4 S 3 | N/E | LL 7 S 5 | DGS 7 | N/E | N/E | LL 4 S 5–6 | DGS 7 | LL 2 S 3 | N/E | LL 7 S 7 |
| Hematological and visceral manifestations | ||||||||||||||||
| Anemia | - | - | x | - | - | - | - | - | x | - | x | x | - | - | - | - |
| Hemoglobin (g/L) | 125 | 125 | 118 | 140 | 127 | 149 | 122 | 132 | 103 | 140 | 110 | 113 | 123 | 117 | 124 | 127 |
| Thrombocytopenia and coagulopathy | - | x | x | x | - | - | x | - | x | - | - | x | x | - | x | x |
| Platelet counts (/L) | 156 | 87 | 65 | 95 | 123 | 197 | 117 | 144 | 63 | 182 | 185 | 82 | 130 | 254 | 103 | 71 |
| Splenomegaly | Mild | Mild | Mild | - | - | - | x | N/A | Moderate | N/A | N/A | - | N/A | - | - | N/A |
| Hepatomegaly | - | Mild | Mild | Mild | - | Mild | - | Mild | Moderate | N/E | Mild | Moderate | Mild | Moderate | Severe | - |
| Splenectomized | - | - | - | - | - | - | - | x | - | x | x | - | x | - | - | x |
| Gammopathies and malignancy | - | - | - | - | - | - | - | - | - | x | - | - | - | - | - | - |
| Pulmonary disease | - | - | ||||||||||||||
| Elevated arterial pressure | - | - | - | - | - | - | - | - | - | x | x | - | - | - | - | - |
| Severe pulmonary hypertension | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
| Hepatopulmonary syndrome | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
| Respiratory failure | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |
| Other | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - |