[A case of severe liver injury associated with erythropoietic protoporphyria]

A man in his 60s presented to our hospital with decreased appetite and approximately 10-kg weight loss over the past year. He was found to have chronic liver dysfunction and jaundice, prompting a thorough evaluation, including hepatitis virus markers. Three weeks after the initial visit, he was hospitalized with acute exacerbation of liver injury and persistent nausea. Given his personal and family history of photosensitivity, porphyria was suspected. Blood testing revealed markedly elevated protoporphyrin level at 4923μg/dL RBC (normal 30-86). Ferrochelatase gene testing identified a heterozygous deletion mutation and a low-expression allele, IVS3-48C/C, in both alleles, suggesting erythropoietic protoporphyria (EPP). Liver biopsy revealed deposits with birefringence under polarized light, confirming EPP-related hepatopathy. The patient's symptoms improved temporarily with hemin therapy, and he was discharged from the hospital, but liver injury worsened after relapse. Despite multidisciplinary management-including repeat hemin, phlebotomy, and plasma exchange-he died just over two weeks later. An autopsy performed with the family's consent revealed a markedly cirrhotic liver with a smooth black surface. Microscopy revealed dark-brown matrix deposits with birefringence under polarized light, along with perivascular deposits of acidophilic, PAS-positive substrates in the papillary dermis, consistent with EPP pathology. Comparison of the liver biopsy and autopsy specimens showed marked fibrosis progression. This was a severe case of EPP-related liver failure with no established treatment, although temporary benefit was achieved with hemin therapy.