Diagnosis of Wilson's disease: an experience over three decades

Background-Wilson's disease is a rare but treatable condition that often pr esents diagnostic dilemmas. These dilemmas have for the most part not been resolved by the identification and cloning of the Wilson's disease gene. Aims-To report our experience over three decades with patients with Wilson' s disease in order to illustrate the diverse patterns of presentation and t hereby broaden the approach to diagnosis. Methods-Clinical and laboratory findings of 30 patients with Wilson's disea se were reviewed. Results-Twenty two patients presented with Liver manifestations (eight with fulminant hepatic failure and 14 with chronic liver disease), three with n eurological disease, and one with haemolysis; four were asymptomatic siblin gs of patients with Wilson's disease. Seventy per cent were diagnosed withi n six months of the onset of symptoms, but diagnosis was delayed for up to nine years. Age range at diagnosis was wide (7-58 years) and five patients were over 40. In patients presenting with non-fulminant disease, 18% had ne ither Kayser-Fleischer rings nor low caeruloplasmin concentrations. Increas ed liver copper concentrations were found in all but one patient who had un dergone six years of penicillamine treatment. In fulminant hepatic failure (n=8) additional features helpful in the diagnosis included evidence of hae molysis, increased urinary copper (range 844-9375 mu g/24 h), and a high no n-caeruloplasmin copper (range 325-1743 mu g/l). Conclusions-The diagnosis of Wilson's disease still depends primarily on th e evaluation of clinical and laboratory evidence of abnormal copper metabol ism. No one feature is reliable, but the diagnosis can usually be made prov ided that it is suspected. Wilson's disease should be considered in patient s of any age with obscure hepatic or neurological abnormalities.