Wilson's Disease

Wilson’s disease (WD) is a rare inborn copper storage disorder characterized by the presence of excess copper liver, brain, kidneys and cornea. WD is, genetically, an autosomal recessive disorder (in which, possible two genes to be defective for disease onset).

WD is distributed throughout the world. The prevalence is 3-20 per 1,00,000 and vary by population. Higher prevalence of WD in Japanese population is linked to consanguineous marriage.

Mutations in a gene named ATP7B, which is responsible for copper transportation, causes impaired protein called copper-transporting ATPase (an enzyme or biocatalist). As a result, copper gets accumulated in liver, brain and various other organs. In many affected subjects copper deposits form Kayser-Fleischer ring, which is a green-brownish ring around the cornea of the eye. Initial feature is usually liver disease in WD and is observed between the ages of 6 and 45. The frequent disease manifestations in WD include a spectrum of liver pathologies and neuropsychiatric abnormalities. Yellowing of the skin or the eyes, loss of appetite, abdominal swelling and fatigue are the signs. Psychiatric or nervous system problems can include trembling, clumsiness, difficulty in walking, speech problems, mood swings, anxiety and depression.

WD is a progressive disease and could be fatal if left untreated. Early diagnosis and treatment may prevent long-term disability and further complications. But timely diagnosis of WD still remains a challenge. The treatments are aimed at preventing accumulation of copper in tissues and reducing already accumulated copper in the body. A combination of copper chelators (in which drugs like D-penicillamine bind copper and excreted in urine) and zinc therapy has been in use to prevent progress of WD. Patients are advised to avoid certain high copper foods such as chocolate, mushroom, nuts etc. Liver transplantation becomes lifesaving for subjects in advanced stage of WD.

Pioneering study in 1912 by Samuel Wilson, a British neurologist described the condition and pathological changes in liver and brain.

Contributor: Duraiswamy Navaneetham PhD.

Temple University School of Medicine

Philadelphia, PA, USA

December 2009