Acute haemolytic syndrome and liver failure as the first manifestations of Wilson's disease.

Acute liver failure and haemolytic syndrome appeared quite suddenly as the first manifestations of Wilson disease (WD) in five of our patients previously regarded as healthy persons (although an interview showed that 2-4 weeks prior to the illness the patients complained of several non-specific symptoms, such as abdominal pain, headaches, fever, weakness or behavioural changes). All the patients were young women (17-23 years), none of them had any history of liver disease. They were admitted with icterus, nausea, vomiting and symptoms of increasing haemolysis. The diagnosis of WD was given as disturbed copper metabolism. After a short period of observation ascites and anasarca occurred, haemorrhagic diathesis and other symptoms of liver failure increased. Levels of clotting factors decreased rapidly. Despite treatment with D-penicillamine, plasmapheresis, and symptomatic drugs, three of the women died in irreversible liver coma, due to the unavailability of liver transplantation. The fourth woman was carried to the Transplantation Centre, due to aggravation of the symptoms of liver failure, where liver transplantation was performed. Histopathologically micronodular cirrhosis was shown in all these cases. The fifth patient survived having undergone the above treatment without liver transplantation. The main differences between the patient who survived and those who died or underwent transplantation were relatively higher activity of alkaline phosphatase (26 U/l vs. 10-20 U/l), slightly higher levels of clotting factors and prothrombin time, which never fall below 68% of the control (versus 14-44% in other patients). Only in the surviving patient was the Kayser-Fleischer ring present. In four of our patients we found family members who were carriers of WD.

[Liver transplantation in a patient with hemolytic syndrome in the course of fulminant Wilson's disease]. / Transplantacja watroby u chorej z zespolem hemolitycznym w przebiegu piorunujacej postaci choroby Wilsona.

The case report of a 20 year old woman with fulminant liver failure and hemolytic syndrome was described. Huge amounts of copper excreted in the urine (3555 mg/12 h without, and 5180 mg/12 h after d-penicillamine provocation, respectively) confirmed the diagnosis of fulminant Wilson's disease. Because the patient's general condition worsened rapidly (hemolysis, diathesis hemorrhagic, ascites, encephalopathy increased during 3 days of clinical observation) orthotopic liver transplantation was performed. After the transplantation, ischemic type biliary lesion (ITBL) II stage was diagnosed. The woman is still being treated with Prograf and Urso-Falk. The patient returned to her normal life, continues to work and was married. Two years after OLT she gave birth to a healthy boy. The liver function tests are normal with the exception of GGTP and FALK activities elevation. Copper and ceruloplasmin level, as well as copper excretion in the urine are within the normal values.

[Wilson's disease in personal material--disturbances in hemostasis]. / Choroba Wilsona w materiale wlasnym--zaburzenia hemostazy.

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.