An inherited disorder where there is excessive amounts of copper in the body, which causes a variety of effects including liver disease and damage to the nervous system.

Alternative Names

Hepatolenticular degeneration

Causes, incidence, and risk factors

Wilson disease (hepatolenticular degeneration) is a rare inherited disorder, affecting approximately 1 out of 1 million people. If both parents carry an abnormal gene for Wilson disease there is a 25% chance that each of their children will develop the disorder (i.e., Wilson is an autosomal recessive disease). It is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. The disorder most commonly appears in people under 40 years old. In children, the symptoms begin to be expressed by around 4 years old. Wilson disease causes the body to absorb and retain excessive amounts of copper. The copper deposits in the liver, brain, kidneys, and the eyes. The deposits of copper cause tissue damage, necrosis (death of the tissues), and scarring, which causes decreased functioning of the organs affected. Liver failure and damage to the central nervous system (brain, spinal cord) are the most predominant, and the most dangerous, effects of the disorder.

Signs and tests

Eye examination may show Kayser-Fleischer rings (rusty or brown-colored ring around the iris ). Eye movement may be restricted. Examination may show signs of liver or spleen disorders (including cirrhosis and liver necrosis ), damage to the central nervous system including loss of coordination , loss of muscular control, muscle tremors , loss of cognitive and intellectual functions, loss of memory , confusion ( delirium or dementia ), and other damage. Serum ceruloplasmin is low. Serum copper is low in spite of the copper deposits in tissues. Urine copper is high. CBC may show hemolytic anemia or decreased white blood cell count . Serum uric acid levels are low. Lab abnormalities with liver insufficiency:

elevated

PT / PTT

elevated

SGOT / SGPT

decreased

albumin

elevated

bilirubin A head MRI or head CT scan may be abnormal, especially in a region of the brain called the basal ganglia, but nonspecific. An abdominal X-ray , abdominal MRI , or CT scan of the abdomen may indicate liver disease or other abnormality. A liver biopsy or biopsy of the kidneys or other suspect tissue shows deposits of copper, and shows tissue changes that indicate damage to the tissues. This disease may increase the protein and amino acid level in a 24-hr. urine specimen. Genetic testing for an abnormality (mutation) in the Wilson disease gene (ATP7B)is available.

Treatment

The goals of treatment are to reduce the amount of copper in the tissues and to manage the symptoms of the disorder. Treatment must be lifelong. Pyridoxine ( vitamin B6 ) is used to counteract nervous tissue damage. Potassium or sodium supplements may be given before meals to reduce the amount of copper that is absorbed from foods. Penicillamine is a medication that helps move copper out of the tissues and causes it to be excreted from the body in the urine. Corticosteroids such as prednisone may be used if the person cannot tolerate penicillamine. A low-copper diet may be recommended, including avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish . Distilled water may be suggested because most tap water flows through copper pipes. Avoid using copper cooking utensils. Symptoms are treated as appropriate, including exercises or physical therapy, and protective measures for people who are confused or unable to care for themselves.

Support groups

Wilson disease support groups can be found at www.geneticalliance.org .

Expectations (prognosis)

Lifelong treatment is required to control the disorder. The disorder may cause fatal effects, especially loss of liver function and toxic effects of copper on the nervous system. In cases where the disorder is not fatal, symptoms may be disabling.

Complications

acute hepatitis

chronic hepatitis

cirrhosis

liver

necrosis (death of liver tissues)

spleen dysfunction

anemia

increased

incidence of infections

injury caused by falls

loss of ability to interact with other people

loss of ability to function at work and home

loss of ability to care for self

loss of

muscle mass (atrophy)

joint

contractures or other deformity

increased incidence of bone

fractures

side effects of penicillamine

side effects of other medications used to treat the disorder

Calling your health care provider

Call your health care provider if symptoms indicate Wilson disease may be present. Call a genetic counselor if Wilson disease is present in your family.

Prevention

Genetic counseling is recommended for persons with a family history of Wilson's disease.