Wilson Disease is an inherited condition that causes the body to retain excess copper. The liver of a person who has Wilson Disease does not release copper into bile as it should. As the copper builds up in the liver, it begins to damage the organ.
After enough damage, the liver releases 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 Disease can cause severe brain damage, liver failure, and death.
Wilson Disease is present at birth, but the symptoms usually appear between the ages of 6 and 20 years and can begin as late as age 40. The most characteristic sign is a rusty brown ring around the cornea of the eye called the Kayser-Fleischer ring. This can be seen only through an eye exam.
Other signs can be detected only by a health care professional, such as 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.
Wilson Disease is a rare inherited disorder that affects about one in 30,000 individuals of any race or ethnicity. Wilson Disease is an autosomal recessive trait, which means that the affected individual must receive two copies of an abnormal gene for Wilson Disease, one from each parent.
The diagnosis of Wilson Disease can usually be made by tests of the blood, urine and eyes, or by liver biopsy. Almost all patients with Wilson Disease also have a decreased level of serum ceruloplasmin, a copper binding protein, in their blood.
An increase of copper in the urine is present in most but not all patients, and corneal Kayser-Fleischer rings are present in 50% of people with the disease. A liver biopsy may be performed to measure the amount of copper in the liver, which is elevated uniformly in all patients with Wilson Disease. Genetic testing of DNA samples can be used to screen a confirmed patient’s siblings and other family members.
Wilson Disease is treated with lifelong use of D-penicillamine or trientine hydrochloride, drugs that help remove copper from tissue, or zinc acetate, which stops the intestines from absorbing copper and promotes copper excretion. Patients will also need to take vitamin B6 and follow a low-copper diet, which means avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. If detected early and treated properly, a person with Wilson disease can enjoy completely normal health.
If left untreated, Wilson Disease results in increasing damage to the liver and brain, and will be deadly.
Patients with acute liver failure due to Wilson Disease should be considered for liver transplantation. Liver transplantation effectively cures this disease, with a long-term survival rate of about 80%.
The following organization is a good additional resource about Wilson Disease.
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Last updated on October 18th, 2022 at 10:52 am