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Wilson's disease

Wilson's disease or lentigohepatic degeneration is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000. Its main feature is accumulation of copper in tissues, which manifests itself with neurological symptoms and liver disease. The estimated heterozygous carrier rate is about 1 in 90, meaning that 1 in 90 people are unaffected carriers of this mutation. The disease affects men and women equally and occurs in all races. more...

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The Wilson's disease gene (WND) has been mapped to chromosome 13 (13q14.3) and is expressed primarily in the liver, kidney, and placenta but has also been found in the heart, brain, and lung, albeit at much lower levels. The gene codes for a P-type ATPase that transports copper into bile and incorporates it into ceruloplasmin. Bile is a liquid produced by the liver that helps with digestion.

The mutant form of WND expressed in people with Wilson's disease inhibits the release of copper into bile. As the excretion of copper from the body is thus impaired, the copper builds up in the liver and injures liver tissue. Eventually, the damage causes the liver to release the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson's disease can cause severe brain damage, liver failure, and death.

Symptoms and signs

Symptoms usually appear between the ages of 6 and 20 years, but sometimes not until the age of 30, and in rare instances up to age 50. The most classical sign are the Kayser-Fleischer rings (brown rings around the cornea in the eye) that result from copper deposition in Descemet's membrane of the cornea. Other signs depend on whether the damage occurs in the liver, blood, central nervous system, urinary system, or musculoskeletal system. Many signs would be detected only by a doctor, like swelling of the liver and spleen; fluid buildup in the lining of the abdomen; anemia; low platelet and white blood cell count in the blood; high levels of amino acids, protein, uric acid, and carbohydrates in urine; and softening of the bones. Some symptoms are more obvious, like jaundice, which appears as yellowing of the eyes and skin; vomiting blood; speech and language problems; tremors in the arms and hands; and rigid muscles.

Clinical features

Clinical symptoms rarely develop before 5 years of age, despite the biochemical defect being present at birth. The average concentration of hepatic copper may reach 20 times normal levels, whilst plasma ceruloplasmin levels are typically less than 30% of normal.

The age of presentation seems to correlate with the organ system involved. About half (40–50%) of patients first present with hepatic symptoms and half (40–50%) with neurologic symptoms. The average age for hepatic symptoms is 10–14 years, compared with 19–22 years for neurologic symptoms. Patients rarely present after age 40.


  • Chronic active hepatitis, culminating in cirrhosis
  • Fulminant liver failure


  • Cognitive impairment
  • Mood disorder
  • Psychosis


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Update on Wilson's disease - Tips from Other Journals
From American Family Physician, 11/1/92

Wilsons disease is an inherited disorder of copper metabolism that leads to hepatic and neurologic dysfunction and can affect many other body systems. Yarze and colleagues reviewed the current concepts on pathogenesis, clinical presentation and treatment of this disease.

Wilson's disease is inherited in an autosomal recessive pattern. Although the disorderwas identified in 2912 and the gene for it has now been mapped to chromosome 13, the biochemical derangement responsible for the abnormal copper metabolism has not been explained. Its clinical manifestations result from a gradual, progressive poisoning from excess copper deposited in various body tissues.

Wilson's disease commonly leads to hepatic cirrhosis. It may also present as an episode of acute hepatitis, and it can lead to chronic active hepatitis. The disease occasionally manifests as fulminant hepatic failure with coagulopathy and encephalopathy; without liver transplantation, patients with these manifestations often die.

The disease can affect neurologic function. In adolescents, symptoms are commonly progressive and include tremor, dysarthria, sialorrhea, incoordination and ataxia. Wilson's disease should also be considered in the evaluation of new-onset psychiatric illness or Coombs'-negative intravascular hemolysis in a young person. The disease. may also be associated with renal, rheumatologic, dermatologic, cardiac or endocrine disturbances.

Although no one test or clinical finding is pathognomonic for Wilson's disease, the presence of Kayser-Fleischer rings in the eyes or a low serum ceruloplasmin level suggests the diagnosis. Kayser-Fleischer rings may be absent in patients with hepatic Wilson's disease; hepatic copper levels may need to be determined in these patients.

Effective treatment is available for Wilson's disease, although it must be continued through life. Penicillamine is the treatment of choice; trientine may be used in patients who cannot tolerate penicillamine. Zinc may be used in patients who cannot tolerate either penicillamine or trientine. Because this potentially fatal chronic condition is readily treatable, it is important for primary care physicians to maintain a high index of suspicion for the diagnosis. (American Journal of Medicine, June 1992, vol. 92, p. 643.)

COPYRIGHT 1992 American Academy of Family Physicians
COPYRIGHT 2004 Gale Group

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