This site is intended for healthcare professionals
Login | Register (NOW FREE)

Medical search

Wilson 's disease

FREE subscriptions for doctors and students... click here
You have 3 open access pages.

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.


  • 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.


The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2016 Oxbridge Solutions LtdĀ®. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions LtdĀ® receives funding from advertising but maintains editorial independence. GPnotebook stores small data files on your computer called cookies so that we can recognise you and provide you with the best service. If you do not want to receive cookies please do not use GPnotebook.