Juvenile Wilson disease: histologic and functional studies during penicillamine therapy

Because the long-term effects of penicillamine on hepatic morphology in Wilson disease are virtually unknown, seven patients with this disorder were studied two to seven years after the onset of drug treatment. All were without symptoms at follow-up. By comparison to initial biopsies (four patients), posttreatment specimens showed either considerable reduction in portal fibrosis (two patients) or no significant change (two patients); portal inflammation and necrosis were greatly diminished or absent in three. In none was there complete restitution of normal architecture. Three patients lacked initial biopsies. In these, portal cirrhosis, inflammation and necrosis, and fatty vacuolization of the hepatocytes were present three, five, and seven years after onset of therapy. Lipofuscin pigment was abundant in follow-up biopsies. The data demonstrate that morphologic improvement is achieved in some patients with Wilson disease receiving penicilliamine, but that this is not predicted by biochemical factors. Sequential biopsies are necessary to evaluate completely the extent of healing.