Significance of copper determination in late onset of Wilson's disease.

BACKGROUND

Wilson's disease is an autosomal recessive disorder of copper metabolism resulting from the dysfunction of a copper transporting P-type ATPase encoded on chromosome 13. When capacity for hepatic storage is exceeded, the excess copper manifests itself in toxic action. In this article, the case of a sudden unexpected death of a 22-year-old woman, as a result of a subclinical course of Wilson's disease, is reported.

METHODS/RESULTS: A woman with no past medical history of underlying liver disease was hospitalized for nine days before death because of strong hemolytic anemia of unknown origin. Intoxication by lead, mercury, cadmium, thallium, zinc, chromium, manganese, and arsenic compounds was excluded. High levels of copper in blood and urine (AAS method) were found (blood: 3.90 microg/ml, urine: 8.10 microg/ml, 12,140 microg/24 h; normal - blood: 0.88 microg/ml, urine: 0.051 microg/ml, < 51 microg/24 h). Symptomatic treatment, aimed at multi-organ failure, was applied immediately. In spite of intensive care, the patient died. Post-mortem findings indicated the presence of anasacra and ascites, hydropericardium, brain edema, orange-like coloration of internal organs, and cirrhotic liver. Histopathological examination of liver slices revealed complete micro- and medionodular cirrhotic changes, focal central necrosis of the hepatocytes and cholestasis. The copper content in liver was 89.8 mug/g (normal: 3.58 +/- 1.71 microg/g).

CONCLUSIONS

Assessment of tissue copper content is essential for the diagnosis of Wilson's disease in the living or after death (in living it can be helpful in proper diagnosis, and after death it enables one to ascertain the cause of a sudden death). The copper level in the liver in Wilson's disease is about 25 times higher than in the healthy liver.