11th August 2024

Wilson’s disease

Wilson’s disease is characterised by liver failure, neuropsychiatric symptoms and movement disorders. It is an autosomal recessive disorder that results in abnormal copper metabolism leading to excessive copper deposition in tissues, most notably the liver, eyes and brain. The defective gene responsible is ATP7B located on chromosome 13. It usually presents between 10-25 years of age. If it presents earlier in life it is normally through liver failure, while those with later presentation predominantly display neurological signs.

The copper in the liver results in hepatitis, which leads over time to cirrhosis. In the brain, copper accumulation, particularly in the basal ganglia, can result in chorea, parkinsonism, dementia, speech disturbance, behavioural and psychiatric symptoms. Corneal deposition leads to green-brown rings around the edge of the iris known as Kayser-Fleischer rings, which can be seen on slit-lamp testing. These deposits do not affect vision and are more commonly seen in those who have neurological involvement compared to those with isolated liver disease. The excess copper can also result in renal tubular acidosis (Fanconi syndrome), haemolysis and blue nails.

Test results include reduced serum caeruloplasmin, reduced total serum copper (due to 95% copper being carried by caeruloplasmin), increased free serum copper and increased 24-hour urinary copper. MRI brain is non specific but may show basal ganglia abnormalities. There is a clinical criteria, ‘a Leipzig score,’ that helps to guide clinicians as to the likelihood of Wilson’s disease.

Treatment is with penicillamine, which chelates copper, enabling its excretion in the urine. Trientine hydrochloride is an alternative chelating treatment. The prognosis is very good with patients leading normal lives with normal life expectancy if the disease is detected early and there is good treatment adherence.