Treatment

Seek expert advice

Treatment is with long term chelating agents such as penicillamine

• which chelates copper and increases urinary excretion
• improvement is slow and at least six months continuous therapy should be tried
• urinary copper level is monitored to indicate when the patient is back to within normal limits.

Unlike in other conditions, reactions to penicillamine are rare in Wilson's disease. If they do occur, penicillamine should be stopped and recommenced in increasing doses under prednisolone cover. If penicillamine is still not tolerated an alternative is trientine.

Low copper diets are of little value although high copper containing foods, such as chocolate, peanuts, and mushrooms are best avoided.

All siblings of sufferers must be screened. Treatment is required for all homozygotes, even if asymptomatic, but not for heterozygotes.