Z Gastroenterol 2009; 47 - A36
DOI: 10.1055/s-0029-1224015

Acute liver failure in Hungarian Wilson's disease patients

E Horváth 1, A Folhoffer 1, T Csák 1, A Horváth 1, J Osztovits 1, Z Visnyei 1, L Csihi 1, Z Gerlei 2, I Fehérvári 2, L Kóbori 2, B Nemes 2, J Járay 2, J Schuller 3, J Kósa 1, F Szalay 1
  • 11st Dept. of Internal Med
  • 2Clinic of Transplantation and Surgery of Semmelweis University
  • 3Szent László City Hospital Budapest

Background: Wilson's Disease (WD) may manifest in any form of acute and chronic liver disease. Fulminant hepatitis is a rare presenting form. In majority of cases only the liver transplantation can save the life. Our aim was to study the data of Hungarian WD patients with fulminant hepatitis. Epidemiological, clinical and gene mutation analysis were performed.

Patients and methods: Out of 142 recorded patients from Hungary 19 (15 women, 4 men, age: 16±4 years) had Wilson's disease related fulminant hepatitis. The diagnosis of WD was based on the international scoring system. The mutation of H1069Q was tested by seminested PCR-based RFLP assay; the others were screened by denaturating HPLC and then sequenced.

Results: 8 patients out of 19 died in acute liver failure (ALF), 7 were transplanted and 4 patients got recovery. One out of 7 liver transplanted patients died because of acute rejection, 1 that of chronic rejection and another one in sepsis. Several patients died because of lack of donor liver.

In five cases the WD diagnosis was established only after the death of the patients.

15 patients had Coombs negative haemolysis contributing to the high serum bilirubin level. The mean serum coeruloplasmin level was 0,16±0,08mg/dl. The AST:ALT quotient was significantly higher and alkaline phosphatase was lower (p<0.001) compared to the other, non-ALF WD patients. Kayser-Fleischer ring was detected in 8 cases. The most frequent mutation was H1069Q (9/19). The symptoms in all of the women were detected less than 4 years after menarche. The family screening by mutation analysis proved the WD in four asymptomatic cases.

Conclusion:

In each case of acute liver failure of unknown origin WD disease etiology should be considered. The high AST:ALT quotient together with low ALP level support the diagnosis of WD with ALF. Genetic testing can help to diagnose the disease of the siblings before manifestation of the symptoms. The liver transplantation is live-saver, but it is limited by shortage of donors in Hungary as well.