Liver transplantation in metabolic disorders

Liver transplantation in pediatric patients represents about 10% of a total of 23.000 transplantations registred in the European Liver Transplantation Register (ELTR)since 1968. The pediatric patients show a specific spectrum of indications with cholestatic liver disorders ranking first, followed by hepatic based metabolic disorders. There has been a significant improvement of survival in transplantation since the early 80ies. The overall survival standard is nowadays in the range of 80%. There is a trend towards even better results in metabolic disorders. The clinical presentation of liver disease caused by metabolic disorders shows a wide range from acute liver, cerebral, cardiac and renal failure to chronic end stage liver, kidney and heart disease potentially complicated by hepatocellular carcinoma. In many cases, the diagnosis of a underlying metabolic disorder is very difficult and time consuming so the decision to do a liver transplantation may be necessary before a final diagnosis is established. Having these problems in mind, the consideration of absolute and relative contraindications for liver transplantation in metabolic disorders is even more difficult than it is already in cholestatic or inflammatory liver disorders. The individual evaluation of a patient suffering from a hepatic metabolic disorder must consider in addition the often dramatic restriction of quality of life due to rigorous dietary restrictions or other therapies. This makes clear that suitable methods to measure quality of life must be developed and applied in order to fulfill this goal. The extension of indications for liver transplantation even to disorders with only partial defects in otherwise healthy livers was possible by using innovative surgical techniques such as partial, living related, split, in situ split and auxiliary orthotopic transplantation. These techniques allowed to reduce the mortality on pediatric waiting lists significantly without restricting the general donor pool. However, living related liver transplantation is handicaped by the heterozygous status of the parent donor. This plays a role especially in patients with progressive familial intrabepatic cholestasis (PFIC) and Wilson's disease.