Management of patients with EPP related progressive liver disease.

Erythropoietic protoporphyria (EPP) is an inherited metabolic disorder of heme synthesis resulting from overproduction of protoporphyrin IX (PPIX) which can lead to progressive liver disease characterized by recurrent EPP crisis and end stage liver disease. We utilized the Australian Transplant Registry to identify five patients referred for liver transplantation between 2008 and 2017. Four patients had EPP secondary to ferrochelatase (FECH) deficiency and one had X-Linked EPP (XLP). No patient had specialist follow-up prior to the diagnosis of progressive liver disease. Three patients underwent orthotopic liver transplant (OLT), while two died while on the transplant waiting list. Parenteral PPIX-lowering therapy was utilized in four patients and was effective in three patients although two of these had rebound porphyria and worsening liver function following decreasing the intensity of therapy. Early disease recurrence in the allograft following transplantation occurred in two patients requiring red cell exchange (RCE) to successfully attain and maintain low PPIX levels, but RCE was associated with hemosiderosis in one case. Allogeneic stem cell transplantation (AlloSCT) was performed in two patients. One failed engraftment twice while the second rejected their first graft but achieved full donor chimerism with a second graft and increased immunosuppression. Conclusion: Our observations suggest that progressive liver disease needs parenteral PPIX-lowering treatment with the intensity adjusted to achieve a target Erc-PPIX level. Since recurrent EPP liver disease is the rule, AlloSCT should be considered in all patients with adequate immunosuppression to facilitate engraftment. RCE appears effective for recurrent EPP liver disease but is associated with an increased risk of iron overload. This article is protected by copyright. All rights reserved.