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Wilson 's disease

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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.

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