Paternal Split‐Liver Transplantation Followed by Haploidentical Hematopoietic Cell Transplantation in an Adult Patient With Protoporphyria‐Induced Liver Failure

TL;DR

A 35-year-old patient with protoporphyria-induced liver failure received a split-liver transplant followed by a successful haploidentical stem cell transplant from their father, leading to full recovery.

Contribution

This case demonstrates the feasibility of haploidentical hematopoietic cell transplantation in treating protoporphyria when a matched donor is unavailable.

Findings

Split-liver transplantation was successfully performed followed by a second haploidentical HCT.

Protoporphyrin blood levels normalized and skin light sensitivity resolved after the second HCT.

The patient achieved complete remission without needing immunosuppressive therapy.

Abstract

Erythropoietic Protoporphyria (EPP) caused skin light sensitivity and liver cirrhosis in a 35‐year‐old patient who subsequently developed liver‐failure.

In absence of a human leukocyte antigens (HLA)‐matched‐unrelated donor, the father consented in donating for split liver transplantation (SLT) and allogeneic hematopoietic cell transplantation (HCT).

After bridging therapy and successful SLT a first paternal HCT resulted in graft failure. For a second haploidentical HCT a different regimen was applied leading to engraftment while protoporphyrin (PP) blood‐levels decreased to normal and skin light sensitivity skin disappeared, leading to complete remission in an immunosuppressive‐free patient.

Haploidentical transplantation is a feasible treatment approach in EPP‐patients.

The authors have confirmed clinical trial registration is not needed for this submission

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