Wilson's disease

Last reviewed 07/2021

Wilson's disease is a rare, autosomal recessive disorder first described by Kinnear-Wilson in 1912. In the 1940's the defect in copper metabolism was noted. It is characterised by:

• the accumulation of copper in the liver, basal ganglia, eye and other organs
• a low serum caeruloplasmin level

In Wilson's disease there are two fundamental defects in the metabolism of copper:

• the rate of incorporation of copper into caeruloplasmin is reduced
• the rate of biliary excretion of copper is reduced

Classically, patients present with neurological disturbance, hepatic cirrhosis and Kayser-Fleischer rings.

• clinical manifestations of Wilson's Disease are extremely diverse
  • in the first decade of life patients presents more frequently with hepatic manifestations. After the age of 20 years 75% of patients present with neurological manifestations and 25% with both hepatic and neuropsychiatric manifestations (2)
  • age of onset is usually 11-13 years (3)
• runs an invariably fatal course if not adequately treated by chelating agents

The condition is treatable and all young patients with cirrhosis should be screened.

Reference:

• Walshe JM, Vinken PJ, Bruyn GW, Klawans HL. Wilson's disease. In: Handbook of Clinical Neurology. Vol. 49. Amsterdam: Elsevier;1986. p. 223-38
• Ferenci P, Caca K, Loudianos. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23 : 139-42.
• Sinha S, Taly AB, Ravishankar S, Prashanth LK, Venugopal KS, Arunodaya GR, et al. Wilson's disease: Cranial MRI observations and clinical correlation. Neuroradiology 2006;48:613-21.