CASE REPORT article
Front. Med.
Sec. Pathology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1664961
This article is part of the Research TopicMolecular Mechanisms and Precision Medicine in Rare DiseasesView all 6 articles
Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report
Provisionally accepted
- Affiliated Hospital of Zunyi Medical University, Zunyi, China
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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[1]. 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. Conclusion: This case highlights the diagnostic challenges of EPP and the importance of integrating clinical history, histopathology, and genetic testing. Polarized light microscopy is crucial for identifying the characteristic features of EPP. Early genetic testing can guide timely diagnosis and treatment, contributing to the understanding of this rare condition.
Keywords: Erythropoietic protoporphyria, FECH, Pathological diagnosis, liver damage, Gilbert's syndrome
Received: 13 Jul 2025; Accepted: 09 Sep 2025.
Copyright: © 2025 Yang, Chen, Wang and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Jinjing Wang, Affiliated Hospital of Zunyi Medical University, Zunyi, China
Chunming Li, Affiliated Hospital of Zunyi Medical University, Zunyi, China
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