Wilson disease is caused by a buildup of copper in the body. Normally, copper from the diet is filtered out by the liver and released into bile, which flows out of the body through the gastrointestinal tract. People who have Wilson disease cannot release copper from the liver at a normal rate, due to a mutation of the ATP7B gene. When the copper storage capacity of the liver is exceeded, copper is released into the bloodstream and travels to other organs—including the brain, kidneys, and eyes.

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

Source: http://www.umm.edu/ency/article/000785prv.htm

Wilson disease is diagnosed through a physical examination and laboratory tests.

During the physical examination, a doctor will look for visible signs of Wilson disease. A special light called a slit lamp is used to look for Kayser-Fleischer rings in the eyes. Kayser-Fleischer rings are present in almost all people with Wilson disease who show signs of neurologic damage but are present in only 50 percent of those with signs of liver damage alone.

Laboratory tests measure the amount of copper in the blood, urine, and liver tissue. Most people with Wilson disease will have a lower than normal level of copper in the blood and a lower level of corresponding ceruloplasmin, a protein that carries copper in the bloodstream. In cases of acute liver failure caused by Wilson disease, the level of blood copper is often higher than normal. A 24-hour urine collection will show increased copper in the urine in most patients who display symptoms. A liver biopsy—a procedure that removes a small piece of liver tissue—can show if the liver is retaining too much copper. The analysis of biopsied liver tissue with a microscope detects liver damage, which often shows a pattern unique to Wilson disease.

Genetic testing may help diagnose Wilson disease in some people, particularly those with a family history of the disease.

Wilson disease can be misdiagnosed because it is rare and its symptoms are similar to those of other conditions.

WD has a fatal outcome if not treated appropriately and in a timely manner. Symptomatic WD patients require lifelong treatment, because an interruption to therapy or inadequate treatment can lead to fatalities within 9 months to 3 years [1]. The severity of disease at the start of treatment determines the level of disability, and an early onset is worse than a late onset in terms of prognosis. If treatment is begun early enough, symptomatic recovery is usually complete, leading to a normal life expectancy. Residual dysarthria and mild dystonia are relatively common in neurological WD (SK Das, personal experience). A prognostic index using the Nazer score has been proposed to differentiate between fatal and nonfatal cases of WD, and is based on the severity of the abnormality of serum aspartate aminotransferase, bilirubin and prothrombin time at admission [2]

References:

1) Scheinberg IH and Sternlieb I (1984) Wilson disease. Philadelphia: WB Saunders

2) Nazer H. et al. (1986) Wilson's disease: clinical presentation and use of prognostic index. Gut 27: 1377 -1381

Wilson disease requires lifelong treatment to reduce and control the amount of copper in the body.

Initial therapy includes the removal of excess copper, a reduction of copper intake, and the treatment of any liver or central nervous system damage. The drugs d-penicillamine (Cuprimine) and trientine hydrochloride (Syprine) release copper from organs into the bloodstream. Most of the copper is then filtered out by the kidneys and excreted in urine. A potential major side effect of both drugs is that neurologic symptoms can become worse—a possible result of the newly released copper becoming reabsorbed by the central nervous system. About 20 to 30 percent of patients using d-penicillamine will also initially experience other reactions to the medication, including fever, rash, and other drug-related effects on the kidneys and bone marrow. The risk of drug reaction and neurologic worsening appears to be lower with trientine hydrochloride, which should be the first choice for the treatment of all symptomatic patients.

Pregnant women should take a lower dose of d-penicillamine or trientine hydrochloride during pregnancy to reduce the risk of birth defects. A lower dose will also help reduce the risk of slower wound healing if surgical procedures are performed during childbirth.

Zinc, administered as zinc salts such as zinc acetate (Galzin, Wilzin), blocks the digestive tract’s absorption of copper from food. Zinc removes copper too slowly to be used alone as an initial therapy for people who already have symptoms, but it is often used in combination with d-penicillamine or trientine hydrochloride. Zinc is safe to use at full dosage during pregnancy.

Maintenance therapy begins when symptoms improve and tests show that copper has been reduced to a safe level. Maintenance therapy typically includes taking zinc and low doses of either d-penicillamine or trientine hydrochloride. Blood and urine should be monitored by a health care provider to ensure treatment is keeping copper at a safe level.

People with Wilson disease should reduce their dietary copper intake. They should not eat shellfish or liver, as these foods may contain high levels of copper. Other foods high in copper—including mushrooms, nuts, and chocolate—should be avoided during initial therapy but, in most cases, may be eaten in moderation during maintenance therapy. People with Wilson disease should have their drinking water checked for copper content and should not take multivitamins that contain copper.

If the disorder is detected early and treated effectively, people with Wilson disease can enjoy good health.

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