Liu HM, Deng GH, Mao Q, Wang XH. Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report. World J Gastroenterol 2019; 25(7): 880-887 [PMID: 30809087 DOI: 10.3748/wjg.v25.i7.880]
Corresponding Author of This Article
Xiao-Hong Wang, MD, PhD, Doctor, Professor, Department of Infectious Diseases, Southwest Hospital, Third Military Medical University(Army Medical University), No. 30, Gaotanyan Street, Shapingba District, Chongqing 400038, China. wangxiaohong@tmmu.edu.cn
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Gastroenterol. Feb 21, 2019; 25(7): 880-887 Published online Feb 21, 2019. doi: 10.3748/wjg.v25.i7.880
Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report
Hui-Min Liu, Guo-Hong Deng, Qing Mao, Xiao-Hong Wang
Hui-Min Liu, Guo-Hong Deng, Qing Mao, Xiao-Hong Wang, Department of Infectious Diseases, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing 400038, China
Author contributions: Wang XH and Mao Q designed the report; Wang XH and Deng GH collected the patient’s clinical data; Liu HM wrote the paper.
Supported bythe Clinical Innovation Project from the Southwest Hospital, No. SWH2016ZDCX1007.
Informed consent statement: The study participant provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Xiao-Hong Wang, MD, PhD, Doctor, Professor, Department of Infectious Diseases, Southwest Hospital, Third Military Medical University(Army Medical University), No. 30, Gaotanyan Street, Shapingba District, Chongqing 400038, China. wangxiaohong@tmmu.edu.cn
Telephone: +86-13594129330 Fax: +86-21-57643271
Received: November 13, 2018 Peer-review started: November 14, 2018 First decision: December 28, 2018 Revised: January 21, 2019 Accepted: January 26, 2019 Article in press: January 26, 2019 Published online: February 21, 2019 Processing time: 100 Days and 8 Hours
Abstract
BACKGROUND
Porphyria is a rare disease with complex classification. Erythropoietic protoporphyria (EPP) is an autosomal recessively inherited disease, and most are caused by mutations in the FECH gene. EPP combined with liver injury is even rarer.
CASE SUMMARY
This paper reports a case of EPP which was admitted to the hospital with abnormal liver function and diagnosed by repeated questioning of medical history, screening of common causes of severe liver injury, and second generation sequencing of the whole exon genome. We also summarize the clinical characteristics of EPP with liver injury, and put forward some suggestions on EPP to provide a reference for the diagnosis of such rare disease.
CONCLUSION
A new mutation locus (c.32_35dupCCCT) which may be related to the disease was found by detecting the FECH gene in the pedigree of this case.
Core tip: The diagnosis of erythropoietic protoporphyria (EPP) is often delayed due to the lack of awareness among doctors. The major highlights of this paper are: (1) EPP patients may suffer from severe liver injury and be misdiagnosed for a long term with liver disease of unknown origin. Therefore, EPP screening should be performed in the clinic for patients with hepatitis accompanied by skin symptoms; (2) an invisible inheritance of EPP is difficult to diagnose, especially for patients whose parents are carriers and have no clinical symptoms; and (3) in the present case, a de novo mutation, c.32_35 dupCCCT (p.Arg13fs), was found to have a possible association with EPP disease.
