Wilson’s Disease

Wilson disease causes the body to retain copper. The liver of a person who has Wilson disease does not release copper into bile as it should. Bile is a liquid produced by the liver that helps with digestion. As the intestines absorb copper from food, 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 disease can cause severe brain damage, liver failure, and death.

Wilson disease is hereditary. Symptoms usually appear between the ages of 6 and 20 years, but can begin as late as age 40. The most characteristic sign is the Kayser Fleischer ring a rusty brown ring around the cornea of the eye that can be seen only through an eye exam. Other signs depend on whether the damage occurs in the liver, blood, central nervous system, urinary system, or musculoskeletal system. Many signs can 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.

Wilson disease is diagnosed through tests that measure the amount of copper in the blood, urine, and liver. An eye exam would detect the Kayser-Fleischer ring.

The 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.

Wilson disease requires lifelong treatment. If the disorder is detected early and treated correctly, a person with Wilson disease can enjoy completely normal health.

Signs and Symptoms

Symptoms usually appear around the ages of 10 to 21 years, but sometimes not until the age of 30, and in rare instances at age 50 and even beyond. Presentation before 5 years of age is extremely rare, despite the biochemical defect being present at birth.

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.

The main features are liver and neuropsychiatric problems. Chronic active hepatitis, culminating in cirrhosis is the most common hepatic presentation, but some patients present with fulminant liver failure (which is characterised by remarkably low alkaline phosphatase and often high bilirubin levels compared to similar disease states[1]) and a surprisingly rare incidence of hepatocellular carcinoma. Neuropsychiatric phenomena are early dementia, mood disorders or psychosis and signs of asterixis (a flapping tremor of the hands) and parkinsonism (including ataxia, dyskinesia, and rigidity).

Adjunctive features are renal (renal tubular acidosis, kidney stones), ophthalmic (Kayser-Fleischer rings, sunflower cataracts), cardiac (cardiomyopathy, cardiac arrhythmias) and dermal (hidradenitis suppurativa). Hemolysis (anemia due to destruction of red blood cells) is usually present only in severe cases.

Causes/Genetics/History

Wilson disease is a genetic disorder that is thought to affect one in 50,000 to 100,000 people worldwide. The disorder is due to abnormal changes (mutations) in a gene that is inherited as an autosomal recessive trait. The disease gene responsible for Wilson disease, known as the ATP7B gene, is located on the long arm (q) of chromosome 13 (13q14.3). The protein regulated by this gene plays a role in the transport of copper (copper-transporting ATPase).

Recessively transmitted disorders may be fully expressed in individuals who inherit two copies of the disease gene (homozygotes), one from the mother and one from the father. Brothers or sisters of those diagnosed with Wilson disease have a one in four chance of inheriting two copies of the disease gene and thus developing the disease. Those who inherit a single copy of the disease gene (heterozygotes) are carriers of the disease trait and may transmit a single copy of the disease gene to their children. It is estimated that one in 90 to 100 individuals is a carrier for Wilson disease. Genetic testing for Wilson disease is not yet possible. However, in families with known, mutations of the gene, haplotype analysis may be useful in determining carrier status.

The basic underlying defect in Wilson disease is not known. It may be related to the body's inability to produce sufficient levels of ceruloplasmin, an enzyme in the fluid portion of the blood that binds to copper and is involved in its transport and regulation. Other scientists theorize that reduced production of ceruloplasmin may be the result of a defect in the liver's ability to metabolize or break down copper. The relationship between reduced ceruloplasmin levels and excessive copper accumulation is not understood. In addition, there is some evidence of impaired excretion of copper by the biliary system.

Diagnosis

The diagnosis of Wilson disease may involve one or more of the following laboratory tests, findings, or procedures:

• Unusually low serum ceruloplasmin levels. (However, ceruloplasmin levels may be normal in up to 10 percent of individuals with Wilson disease.)

• 24-hour urinary copper excretion test with findings of greater than 100mg.

• Confirmation of the presence of Kayser-Fleischer rings. These are golden or greenish-brown rings around the corneas of the eyes. In individuals with brown eyes, a special examination of the eyes known as a slit lamp examination may be necessary to confirm the presence of these rings. They are present in most individuals with Wilson disease and are closely associated with neurologic and psychiatric symptoms and findings.

• Serum copper levels of less than 80µg/dl.

• Demonstration of increased levels of copper in the liver of greater than 250µg/g dry weight. Tissue samples for testing are obtained through a surgical biopsy of the liver.

Some patients who have Kayser-Fleischer rings may have normal levels of serum ceruloplasmin. A liver biopsy may be required to confirm the diagnosis of Wilson disease in these patients.

Early diagnosis is critical since liver damage may occur before the onset of symptoms. Family members of those with a confirmed diagnosis of Wilson disease also require testing and screening for the disease, even if they do not have symptoms. Screening tests should include the evaluation of serum ceruloplasmin levels and urinary copper output.

Treatment

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