Hematopoietic stem cell transplantation for erythropoietic porphyria-induced acute liver failure: A case report and literature review - 10/03/26

Doi : 10.1016/j.clinre.2026.102805

Mohsen Merati ¹, Kristin A. Shimano ², Grace E. Kim ³, Neeraja Kambham ⁴, Bruce Wang ^1,^⁎

¹ Division of Gastroenterology, Department of Medicine, University of California San Francisco (UCSF), San Francisco, California, USA

² Division of Allergy, Immunology and BMT, Department of Pediatrics, University of California San Francisco (UCSF), San Francisco, California, USA

³ Department of Pathology, University of California San Francisco (UCSF), San Francisco, California, USA

⁴ Department of Pathology, Stanford University School of Medicine, Stanford, California, USA

^⁎ Corresponding author.

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Highlights

•	This case showed the rarity and diagnostic challenges of erythropoietic protoporphyria–induced liver disease, underscoring that EPP should be considered in patients with unexplained, recurrent severe abdominal pain and progressive hepatic dysfunction.
•	Serial biochemical monitoring combined with plasmapheresis, red blood cell transfusion, and hemin therapy effectively stabilized hepatic inflammation and reduced protoporphyrin levels prior to HSCT, which helped us having a better decision-making process.
•	This case highlights a novel management strategy in EPP hepatopathy, where early hematopoietic stem cell transplantation, preceded by targeted stabilization with plasmapheresis, RBC transfusion, and hemin, was used as a curative approach, preventing the need for liver transplantation.
•	Post-HSCT outcomes showed complete normalization of porphyrin levels, liver enzymes, and clinical symptoms, reinforcing HSCT as a curative option for the underlying hematopoietic defects.
•	This report adds to the limited literature describing HSCT without prior liver transplant in EPP hepatopathy and highlights the importance of early diagnosis and close liver surveillance with timely approach in protoporphyria patients.

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Abstract

Protoporphyrias are rare genetic disorders in heme biosynthesis, causing protoporphyrin IX accumulation with progressive liver injury. Liver transplantation has traditionally treated protoporphyria-induced liver injury but does not correct the underlying hematopoietic defect. We present a 16-year-old male with painful cutaneous photosensitivity who developed cholestatic liver dysfunction and severe abdominal pain. After plasmapheresis, red blood cell (RBC) transfusions, and intravenous hemin, he had transient improvement and subsequently underwent hematopoietic stem cell transplantation (HSCT) without liver transplantation, which normalized his protoporphyrin levels, liver function, and symptoms. This case underscores HSCT as a disease-modifying therapy that may prevent liver transplantation when performed before irreversible hepatic damage.

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Keywords : Protoporphyrias, Erythropoietic Protoporphyria, Liver Transplantation, Hematopoietic Stem Cell Transplantation