TREATMENT OF WILSONS-DISEASE WITH ZINC-XIII - THERAPY WITH ZINC IN PRESYMPTOMATIC PATIENTS FROM THE TIME OF DIAGNOSIS

The siblings of patients with newly diagnosed Wilson's disease are eac h at 25% risk of also having this autosomal recessive disease. Screeni ng these siblings allows their detection and institution of prophylact ic therapy before they become clinically ill. Herein we report the suc cessful treatment of 13 presymptomatic patients with zinc acetate. The se patients who received zinc have been followed for 3 to 9 years. In well-complying patients, 24-hour urine copper and non-ceruloplasmin pl asma copper levels have decreased over years of follow-up, consistent with the elimination of the excess easily mobilized copper (the potent ially toxic copper) of the body. Effect of therapy and compliance are easily monitored by following 24-hour urine zinc and copper levels. Th e urine copper level is a good reflection of the body's excess load of easily mobilizable copper. It will increase if control is not adequat e. A decrease in urine zinc is an early signal that the patient's comp liance is not optimal. The levels of hepatic copper in response to sev eral years of zinc therapy may remain the same, go down, or go up temp orarily. This is a reflection of zinc induction of hepatic metallothio nein, which sequesters copper in a non-toxic pool. Hepatic copper leve ls should not be used to manage therapy. Liver function is well preser ved by zinc therapy, and no zinc toxicity occurred in these 13 patient s. No patient developed symptoms related to Wilson's disease. We concl ude that zinc acetate is a fully effective and nontoxic therapy for th e prophylactic treatment of the presymptomatic Wilson's disease patien t.