Table 2.
Clinical characteristics of WD patients.
| Variable | Data (n = 61) |
|---|---|
| Duration of disease in years | 24.9 (14.7) |
| Phenotypic presentation at the time of diagnosis 8 | |
| Hepatic 1 | 27 (44.3%) |
| Neurologic/psychiatric with symptomatic liver disease | 7 (11.5%) |
| Neurologic/psychiatric without symptomatic liver disease | 18 (29.5%) |
| Asymptomatic 2,3 | 9 (14.8%) |
| Phenotypic presentation at the time of investigation 8 | |
| Hepatic 1 | 27 (44.3%) |
| Neurologic/psychiatric with symptomatic liver disease | 21 (34.4%) |
| Neurologic/psychiatric without symptomatic liver disease | 4 (6.6%) |
| Asymptomatic 2,3 | 9 (14.8%) |
| Patients with acute exacerbation within the disease process 4 | 18 (29.5%) |
| Patients after liver transplantation | 4 (6.6%) |
| Liver fibrosis according to METAVIR score 5 | |
| F0 | 27 (44.3%) |
| F1 | 7 (11.5%) |
| F2 | 4 (6.6%) |
| F3 | 8 (13.1%) |
| F4 | 15 (24.6%) |
| lPatients with pathological cranial MRI 6 | 32 (52.5%) |
| Therapy | |
| Penicillamine | 37 (60.7%) |
| Trientine | 13 (21.3%) |
| Zinc | 7 (11.5%) |
| No Wilson’s disease medication 7 | 4 (6.6%) |
Data are presented as mean (SD) or n (%) unless otherwise stated. 1 Symptomatic liver disease or asymptomatic elevation of liver enzymes with exclusion of neurological manifestation. 2 Genetic testing within family screening. 3 No evidence of hepatic or neurologic symptoms. 4 Wilson’s disease dependent impairment of health condition which leads to hospitalization. 5 Liver fibrosis according to Metavir score using Data of transient Elastography (Fibroscan®). 6 Evidence of characteristic pathological changes in the cranial MRI. 7 Patients after liver transplantation. 8 Modified by Ferenci.