Erythropoietic protoporphyria (EPP) is a rare inherited disorder of the
heme biosynthetic pathway in which toxic levels of
protoporphyrins often precipitate in the liver, leading to
cirrhosis, liver failure, and the need for
liver transplantation (OLT). Because the underlying
enzyme defect in EPP is bone marrow derived, the risk for recurrent EPP allograft dysfunction is high. Although
plasmapheresis may ameliorate acute allograft disease, strategies to maintain disease remission are needed. A 59-year-old man who underwent OLT for hepatic EPP experienced increased
bilirubin and
aminotransferases on postoperative day 700. Allograft biopsy demonstrated recurrent EPP. He was managed initially with
plasmapheresis, hypertransfusion, and infusions of i.v.
hematin. After normalization of liver tests, the
hematin infusions have been given intermittently, are well tolerated, and associated with normal allograft function for nearly 2 years. This is the first case of the use of
hematin given post-OLT to help achieve and maintain remission of allograft EPP disease.