[Wilson's disease in personal material--disturbances in hemostasis]

Genetically determined impairment of copper excretion from the liver into the bile in Wilson's disease (WD) cause that "free copper" is accumulated in toxic amounts not only in the liver, but also in other organs. In WD liver biopsy often could not be made because of serious disturbances in hemostasis. The aim of the study was: a) to demonstrate our 9 patients with various form of WD. b) to examine some blood clotting factors and compare the results with these obtained in other liver diseases. The diagnosis of Wilson's disease was made on the basis of disturbed copper metabolism. Among our 9 patients (8 women and 1 man, between 17-33 years old) we diagnosed: 3 patients with fulminant Wilson's disease with all day deep jaundice, hemolytic anemia, haemorrhagic diathesis and liver failure, died, 2 patients with active chronic hepatitis, hemolytic anemia and haemorrhagic diathesis, 2 patients with liver cirrhosis, haemorrhagic diathesis, Kayser-Fleisher ring, neuropsychiatric syndrome, 2 asymptomatic patients without haemorrhagic diathesis. The prothrombin index and the factors of prothrombin stem (II, V, VII, X) were lower than in other kinds of cirrhosis. After treatment with d-penicillamine the clothing factors returned near to the norm, similar as the biochemical and immunological results.