TABLE 2.
Characteristics of the three Wilson's disease patients at the diagnosis of copper deficiency and evolution
| Patients | 1 | 2 | 3 |
|---|---|---|---|
| At copper deficiency diagnosis | |||
| Age (years) | 39 | 78 | 57 |
| Weight (kg) | 80 | 54 | 64 |
| Delay since WD diagnosis/first treatment/ (years) | 5.8 | 20 | 34 |
| Current treatment | Zinc acetate (150 mg/day) | Zinc acetate (150 mg/day) | Trientine 2HCL (600 mg/day) + zinc sulphate (1200 mg/day) |
| Duration of WD current treatment (years) | 5.8 | 14 | 21 |
| First clinical symptoms of CD | None | Progressive gait instability over 6 months and LL paresthesia | Progressive LL paresthesia, then LL distal motor weakness and neuropathic pain |
| Delay between first anomalies and CD diagnosis (months) | 6 | 24 | 6 |
| Clinical exam | Normal | Posterior cord syndrome | Posterior cord syndrome |
| Spinal MRI | Normal | Normal | Normal |
| Brain MRI | Normal | Normal | Normal |
| ENMG | Not done | Moderate axonal sensitive neuropathy of LL | Moderate axonal sensory and motor polyneuropathy of LL |
| Hemogram | Pancytopenia | Bicytopenia | Pancytopenia |
| Hemoglobin (N = 120–160 g/L) | 66 | 99 | 110 |
| Platelets (N = 150,000–400,000/mm4) | 35,000 | 437,000 | 140,000 |
| Leukocytes (N = 4000–10,000/mm4) | 3000 | 5300 (but 300 neutrophiles) | 3800 |
| Serum copper (N = 12.7–22.2 μmol/l) | 0.27 | 0.34 | 0.48 |
| Ceruloplasmin (N = 0.2–0.5 g/l) | 0.09 | 0.02 | 0.02 |
| Exchangeable copper (N = 0.62–1.15 μmol/l) | 0.08 | 0.1 | 0.08 |
| REC (%) | 29.6 | 29.4 | 16.7 |
| Urine copper excretion UCE * | 0.22 | 0.34 | 0.1 |
| Zinc blood level (N = 12.5–18 μmol/l) | 30 | 29.1 | 23.7 |
| Urine zinc excretion (N = 4–13 μmol/l) | 89 | 98 | 53.7 |
| Serum Iron (N = 12–28 μmol/l) | 4.9 | 5.5 | 7.3 |
| TSF (N = 1.7–2.7 g/L) | 4 | 3.6 | 3.12 |
| IBC (N = 15–50%) | 8 | 6 | 9 |
| B12 vitamin level | Normal | Normal | Normal |
| Modification of WD treatment | Yes, dose of zinc acetate decreased to 50 mg/d | Yes, treatment stopped | Yes, Trientine stopped and zinc sulphate decreased to 200 mg/d |
| Evolution at last follow‐up | |||
| Delay since CD diagnosis (years) | 10 | 8 | 5 |
| Neurological examination | Normal | Gait instability persists but walking distance >500 m intermittent paresthesia | Gait instability and slight LL weakness persist no more pain |
| Hemogram | Leucopenia improved, anemia disappeared, thrombopenia persisted | Normalization | Normalization |
| Serum copper (N = 12.7–22.2 μmol/l) | 3.49 | 2.14 | 1.89 |
| Ceruloplasmin (N = 0.2–0.5 g/l) | 0.11 | 0.04 | 0.02 |
| Exchangeable copper (N = 0.62–1.15 μmol/l) | 0.33 | 0.61 | 0.64 |
| Urine copper excretion UCE* | 1.07 | 1.27 | 0.78 |
| Serum Iron (N = 12–28 μmol/l) | 24.2 | 14.1 | 13 |
Abbreviations: CD, Copper Deficiency; IBC, iron binding capacity; LL, lower limbs; REC, relative exchangeable copper; TSF, transferrin.
*
Objectives of UCE under treatment (maintenance phase): 1.5 μmol/l for zinc salt; 3–8 μmol/l for chelators.