Clin Mol Hepatol.  2012 Dec;18(4):411-415. 10.3350/cmh.2012.18.4.411.

Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria

• Park PJ
• Hwang S
• Choi YI
• Yu YD
• Park GC
• Jung SW
• Yoon SY
• Song GW
• Ha TY
• Lee SG

• KMID: 1410899
• DOI: http://doi.org/10.3350/cmh.2012.18.4.411

Abstract

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway that is characterized by accumulation of protoporphyrin in the blood, erythrocytes, and tissues, and cutaneous manifestations of photosensitivity, all resulting from abnormalities in ferrochelatase (FECH) activity due to mutations in the FECH gene. Protoporphyrin is excreted by the liver, and excess protoporphyrin leads to cholelithiasis with obstructive episodes and chronic liver disease, finally progressing to liver cirrhosis. Patients with end-stage EPP-associated liver disease require liver transplantation. We describe here a 31-year-old male patient with EPP who experienced acute-on-chronic liver failure and underwent deceased-donor liver transplantation. Surgical and postoperative care included specific shielding from exposure to ultraviolet radiation to prevent photosensitivity-associated adverse effects. The patient recovered uneventfully and was doing well 24 months after transplantation. Future prevention and treatment of liver disease are discussed in detail.

Keyword

Liver transplantation; Acute-on-chronic liver failure; Erythropoietic protoporphyria

MeSH Terms

Acute Disease
Adult
End Stage Liver Disease/etiology/pathology/*therapy
Ferrochelatase/genetics/metabolism
Humans
Liver Cirrhosis/diagnosis
*Liver Transplantation
Male
Mutation
Protoporphyria, Erythropoietic/complications/*diagnosis/pathology