Wilson disease is a very treatable condition. With proper therapy, disease progress can be halted and oftentimes symptoms can be improved. Left untreated, Wilson disease may be fatal.
Wilson disease requires lifelong treatment to reduce and control the amount of copper in the body. Once treatment starts, the disease stops progressing and many signs and symptoms improve. But some problems may take time to resolve. Other problems — especially liver scarring and certain neurological or psychological symptoms — may not be completely reversible.
Treatment is initially aimed at removing excess accumulated copper and subsequently to prevent its reaccumulation.
Initial therapy includes the removal of excess copper, a reduction of copper intake, and the treatment of any liver or central nervous system damage.
Excess copper is removed by means of chelating drugs, which are chemicals used to bind metals and minerals. These orally ingested drugs release copper from organs into the bloodstream, which is then filtered out by the kidneys and excreted in urine. The following drugs have been approved and used for treatment of Wilson disease.
- Penicillamine (Cuprimine, Depen). Penicillamine was the first copper chelating drug approved for use in Wilson disease. Although it is an effective treatment, penicillamine can cause serious side effects, including skin problems, bone marrow suppression, kidney problems, vitamin B-6 deficiency and worsening of neurological symptoms and birth defects.
Penicillamine should not be taken by people with kidney disease or by those who are allergic to penicillin.
- Trientine (Syprine). Another chelating agent, trientine also binds to copper and helps eliminate it from the body. Because it is less toxic than penicillamine, many doctors consider it a first-line therapy, especially in people with liver or neurological symptoms. Trientine also binds to iron, and taking iron supplements can reduce the drug's effectiveness.
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.
- Tetrathiomolybdate is another chelating drug that is under investigation for initial treatment of Wilson disease. Thus far, it has not caused the neurological worsening often associated with penicillamine and even with trientine.
- Zinc acetate. Working differently from chelating drugs, the mineral zinc helps prevent copper from being absorbed in the gut. Zinc has few side effects, but it is slower acting than either penicillamine or trientine and so is usually considered an initial treatment only for pregnant women, for people without symptoms or liver damage, or for those who cannot tolerate stronger medications. Its role is mainly in maintenance therapy.
- 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.
Liver transplantation is the last resort treatment and may be the only option in some scenarios. It is used mainly in patients with acute liver failure who fail to respond to medical treatment, or in patients with advanced chronic liver disease.
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. In patients with chronic liver disease due to Wilson disease, alcohol ingestion should be avoided.
If the disorder is detected early and treated effectively, people with Wilson disease can enjoy good health.
Table 1. Treatment of Wilson Disease
- Zinc acetate
- Combinations of above
- Tetrathimolybdate – investigational
- Liver transplantation