Wilson's Disease
There is no way to prevent or cure Wilson’s disease but it can be successfully managed. Symptoms, complications and response to treatment will vary from person to person, even within families who have the same genetic mutations.
In patients with symptomatic Wilson’s disease the goals of treatment are to decrease excess copper stores, prevent their recurrence, preserve liver, neurological, and kidney function, and to minimize complications associated with the condition and with the medications used to treat it.
Patients who are asymptomatic but have been diagnosed as having Wilson’s disease, such as siblings of affected patients, will usually be treated to decrease any excess copper that is present and to prevent its build-up. Those who are carriers of Wilson’s disease should receive genetic counselling but do not usually require any treatment.
Affected patients are put on a low copper diet. Most are treated first with one of two chelating agents, D-penicillamine or trientine (triethylene tetramine dihydochloride), to increase urinary excretion of copper and decrease copper stores. Patients must be monitored for side effects as the medications can decrease red blood cell, white blood cell and platelet counts and can cause nausea, fever, and skin conditions. Some patients must take these medications long term. Others can switch to zinc therapy once copper stores have normalized. High doses of zinc inhibit the absorption of copper. Antioxidants such as vitamin E may be recommended to help prevent liver and other tissue damage.
Copper dietary restriction and treatment must be continued throughout the patient’s life. Treatments may be changed but should never be discontinued. In some severe cases liver transplantation may be necessary.
