Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report.

ABSTRACT:

Background

Erythropoietic protoporphyria (EPP) is a rare autosomal recessive disorder caused by mutations in the FECH gene, leading to ferrochelatase deficiency and the accumulation of protoporphyrin in various organs. EPP patients with liver damage have atypical histopathological manifestations, which pose challenges for pathological diagnosis.

Content

We report a 29-year-old male with recurrent abdominal pain and scleral jaundice. Initial liver dysfunction suggested autoimmune hepatitis, but liver biopsy revealed dense brownish granular deposits with red birefringence under polarized light, characteristic of EPP. Genetic testing identified a new mutation site (c.804 + 1del), which may be related to the disease. Additionally, the patient also has Gilbert's syndrome.

Conc

SUBMITTER: Yang T 

PROVIDER: S-EPMC12507767 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature