Wilson's Disease (Hepatolenticular Degeneration)
Incidence
1:100.000 .AR inheritance, especially frequent where consanguinity is common. Gene mapped to chromosome 13.
Clinical Characteristics
Wilson's disease is an inherited disorder of copper accumulation. The basic defect is a failure of excretion of excess copper in the bile by the liver for loss in the stool. The accumulating copper causes damage primarily to the liver and the brain. Patients typically present in the second to the fourth decades of life with liver disease, a neurological disease of the movement disorder type, or a wide array of behavioural disturbances. Because the
manifestations of Wilson's disease are so protean, and the disease masquerades so well as something else, recognition of the possibility of Wilson's disease is a major problem, leading to serious underdiagnosis of the disease. It is an inborn error of copper metabolism associated with liver cirrhosis and degenerative changes in basal ganglia. In 30% of cases, present as hepatic form (jaundice or ascitis), in other 30% as cerebral form (dystonia, drooling, gait dysturbance) (9-13 yrs). The other 40% as mixed forms (6-12 yrs). Age onset younger in hepatic sx. Neuro Sx: progressive tremor, fixed smile, impaired speech,variable dementia, emotional lability. Death <3 yrs if not Rx from hepatic failure. K-F ring present.
Precipitants
none
Provocation Tests
none. However, Penicillamine Rx increase copper excretion 5-10 times initially.
Diagnostic Procedures
Liver biopsy. High copper measurement in liver (>250 ug/g dry weight=Dx). Low ceruloplasmin blood levels, usually < 10 (normal values 30-40 mg/dl). Urinary copper is high (>0.8 umol/day). Serum copper is <8 (normal 11-22 umol/L).