Indications and outcome of liver transplantation in tyrosinaemia type 1

A retrospective analysis was performed on 17 patients presenting with tyros inaemia type 1 (TT1) between 1989-1997; 7 pre 1992 prior to the introductio n of 2-(2-nitro-4-trifluoromethylbenzoyl)- 1,3-cyclohexanedione (NTBC) ther apy and 10 post 1992. During this time, eight children (5 males) underwent orthotopic liver transplantation (OLT); six prior to the introduction of NT BC in 1992 and two on NTBC therapy. The primary indications for OLT pre-199 2 were risk of hepatocellular carcinoma with evidence of hepatic dysplasia in all, associated with liver failure in two, and rise in a-fetoprotein (AF P) in four. Two of the ten treated with NTBC required OLT. The indications were non-response to NTBC in one child and development of hepatic dysplasia associated with poor quality of life in the second patient. Median age for OLT was 64 months (range 5-127 months) with a median weight of 24 kg (rang e 6-25 kg). The histology of hepatectomy specimens at transplantation showe d: cirrhosis in 8, hepatic dysplasia in 6 and hepatocellular carcinoma in 1 . Plasma tyrosine and AFP returned to normal in all cases. Urinary succinyl acetone reduced but persisted in small amounts (median 7.7 mu mol/mmol crea tinine). Hypertrophic cardiomyopathy resolved in 3/3 patients. Hypoglycaemi a, not responding to dietary therapy or NTBC treatment, resolved post-trans plant in one patient. There were two deaths, one from primary non-function and one from chronic rejection. Late complications in survivors (n = 6) inc lude posttransplant lymphoproliferative disease of the iris in one child wh ich resolved and renal dysfunction with a fall in glomerular filtration rat e in three (50%). Median follow up post OLT is 6.7 years (range 1-7 years). Quality of life post-transplant in survivors is good with unrestricted die t in all. Conclusion Liver transplantation is an effective treatment for TT1 with goo d quality of life. The current indications of OLT in TT1 are non-response t o NTBC, risk of malignancy and pool quality of life related to dietary rest riction and frequency of blood sampling.