Introduction: Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive disorder leading to liver failure before reaching adulthood.
Aim: The goal was to analyse the outcome of PFIC (progressive familial intrahepatic cholestasis) in our Department.
Material and methods: We retrospectively reviewed records of all 50 children with PFIC seen from 1979 to 1998 in the Children's Memorial Health Institute. The diagnosis of PFIC was confirmed based on history of the disease and characteristic clinical and biochemical symptoms. Fifty patients (23 girls and 27 boys) were identified. Medical treatment consisting of cholestyramine, phenobarbital, UDCA and/or rifampicin was started in all pts immediately after diagnosis of PFIC. This was the only treatment used before 1990, when liver transplant program was initiated in our centre. Since 1996 we have performed partial external biliary diversion (PEBD). Ileal bypass procedure was performed since November 1998.
Results: The diagnosis was confirmed in children between 1 month and 13 years of age. Major clinical features were cholestasis (100%) and pruritus (100%). In 40 pts. the onset of PFIC was in infancy. Eight children (16%) had suffered from pruritus for 4 months to 6 years prior to cholestasis. In the neonatal period 15 children (30%) had diarrhoea. 46 children had hepatomegaly. Growth below the 3 rd percentile was found in 31 pts, below the 10th percentile in 6 pts, between the 10th and 25th in 2 pts. The remaining 11 children were between 25th and 50th percentile.
10 patients (22%) died at a mean age of 4.1± 3.24 years with 2 deaths occurring in the early posttransplant period due to postoperative complications. 8 deaths occurred in the non LTx group secondary to liver failure in 7 patients and hepatocarcinoma in one pts. Medical treatment (cholestyramine, phenobarbital) was ineffective in all pts. Only in 8 pts (16%) improvement after UDCA therapy was observed.
LTx was performed in 8 children (included 1 pts after PEBD) at a mean age of 5.32±4.07 years.
Six children after LTx are alive and well between 1 and 7 years after transplantation. PEBD was done in 19 pts, at a mean age of 5.37±4.74 years. All pts are alive. The result of the therapy was good in all but 5 children. Ileal bypass was done in 5 pts (induced 1 pts after PEBD) at a mean age of 6.47± 4.94 years.
Conclusion: 1. Medical treatment in almost all pts with PFIC is ineffective. 2. In patients before liver cirrhosis developed PEBD should be first choice with ca 90% success rate. 3. Patients presenting with cirrhosis or after ineffective PEBD should be qualified for liver transplantation. 4. Ileal bypass appears to be effective - longer follow-up is needed.
The study was supported by KBN, grant number 4 PO5E072143. Poland