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