Living-donor liver transplantation for progressive familial intrahepatic cholestasis.

Background: Progressive familial intrahepatic cholestasis (PFIC) results in liver cirrhosis during the disease course, although the etiology includes unknown mechanisms. Some PFIC patients require liver transplantation (LT).

Methods: In this study, 11 patients with PFIC type 1 (PFIC1) and 3 patients with PFIC type 2 (PFIC2) who underwent living-donor LT (LDLT) were evaluated.

Results: Digestive symptoms after LDLT were confirmed in 10 PFIC1 recipients (90.9%); 8 PFIC1 recipients showed steatosis after LDLT (72.7%), which began during the early postoperative period (71.5±55.1 days). Seven of the eight steatosis-positive PFIC1 recipients (87.5%) showed a steatosis degree of ≥80%, which was complicated with steatohepatitis and resulted in fibrosis. Cirrhotic findings persisted in six PFIC1 recipients even after LDLT (54.5%), and three PFIC1 recipients finally died. The survival rates of the PFIC1 recipients at 5, 10, and 15 years were 90.9%, 72.7%, and 54.5%, respectively. In contrast, the PFIC2 recipients showed good courses and outcomes without any steatosis after LDLT.

Conclusions: The clinical courses and outcomes after LDLT are still not sufficient in PFIC1 recipients owing to steatosis/steatohepatitis and subsequent fibrosis, in contrast to PFIC2 recipients. PFIC2 is good indication for LDLT. PFIC1 patients require LT during the disease course; therefore, we suggest that the therapeutic strategies for PFIC1 patients, including the timing of LDLT, under the donor limitation should be reconsidered. The establishment of more advanced treatments for PFIC1 patients is required to improve the long-term prognosis of these patients.