Wilson's disease with severe hepatic insufficiency: beneficial effects of early administration of D-penicillamine

Background-Wilson's disease, heralded by severe hepatic insufficiency, is a rare disorder for which emergency liver transplantation is considered to b e the only effective therapy. Aims-To report the features of Wilson's disease with severe hepatic insuffi ciency in a series of 17 patients and, during the second period of the stud y, to assess the efficacy of a policy consisting of early administration of D-penicillamine. Patients-Seventeen consecutive patients with Wilson's disease were studied. During the first period of the study (up to 1979), none of the patients re ceived D-penicillamine. During the second period (after 1979), all patients without encephalopathy at admission received D-penicillamine. Results-The four patients observed during the first period who did not have encephalopathy at admission and did not receive D-penicillamine progressed to encephalopathy and died. Among the 13 consecutive patients observed dur ing the second period, two patients with encephalopathy at admission did no t receive D-penicillamine and were transplanted. The 11 remaining patients all received D-penicillamine. Ten of these patients survived without the ne ed for transplantation and returned to compensated liver disease without li ver insufficiency. In one patient, liver insufficiency progressed and trans plantation had to be performed. Conclusions-In most patients with Wilson's disease heralded by severe hepat ic insufficiency and without encephalopathy at admission, early administrat ion of D-penicillamine was associated with survival without transplantation . These results suggest the importance of early diagnosis of this form of W ilson's disease before the onset of encephalopathy, and favour early admini stration of D-penicillamine which could avoid the need for transplantation in most cases.