The role for BMT in erythropoietic protoporphyria

Allogeneic haematopoietic stem cell transplantation for erythropoietic protoporphyria: A cautionary note

“…In conclusion, our observations support the proposition that very strict criteria should be adopted in recommending allogeneic HSCT for EPP [4]. Furthermore, RIC-HSCT for non-neoplastic diseases should be contemplated with utmost care, in view of the high incidence of graft failure, which might be associated with potentially life-threatening complications.…”

“…For this reason, HSCT in EPP has been proposed to be indicated in the following situations: older patients after liver transplantation with recurrent graft disease; young patients post-liver transplantation; young patients with progressive liver disease in the absence of advanced liver fibrosis; and patients who have reversal of liver failure without advanced liver fibrosis [4]. The third and fourth indications are based on the assumption that HSCT may cure the EPP phenotype, a proposal yet to be substantiated.…”

“…Recurrence of liver damage may occur post-transplantation, and correction of the defect in erythrocytic haem synthesis by allogeneic HSCT may be needed. Risks of allogeneic HSCT aside, hepatic protoporphyrin production may also contribute to liver damage, rendering the exact role of HSCT in EPP unclear [4].…”

Neonatal bone marrow transplantation prevents liver disease in a murine model of erythropoietic protoporphyria

“…Since most of the accumulated-PPIX originates from the BM, hematopoietic stem cell (HSC) replacement therapy could be viewed as a therapeutic option for EPP [9,10]. BM transplantation (BMT) was successfully used in conjunction with liver transplantation to prevent recurrent liver failure [11,12].…”

Protoporphyrin IX: the Good, the Bad, and the Ugly

“…However, because overproduction of PPIX by marrow continues, protoporphyric hepatopathy may recur (Samuel et al, 1988;de Torres et al, 1996;Meerman et al, 1999a;Dellon et al, 2002;McGuire et al, 2005). Marrow stem cell transplantation after a temporary remission of hepatopathy or liver transplantation can prevent recurrent liver damage (Rand et al, 2006;Wahlin and Harper, 2010;Dowman et al, 2011;Wahlin et al, 2011b;Singal et al, 2014). At present, identification in advance of patients at risk for development of hepatopathy is impossible.…”