Long-Term Therapy of Wilson's Disease

Five patients with Wilson's disease were treated initially with potassium sulfide and penicillamine and maintained on penicillamine for 9 to 13 years. All patients are now clinically well. Neurologic manifestations have disappeared; liver function studies have reverted to normal or remained normal; and Kayser-Fleischer rings have faded or disappeared. Hypocupremia, hypoceruloplasminemia, and hypercupriuria have persisted. This clinical response to chelation therapy may be taken as evidence that the clinical and pathologic manifestations of this disease are caused by the damaging effects of excessive copper in the tissues. From our experiences with these patients and from the contributions of others, a concept of the natural history of this disease is presented that explains the variability of the clinical manifestations as successive stages in its course.