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©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Feb 21, 2019; 25(7): 880-887
Published online Feb 21, 2019. doi: 10.3748/wjg.v25.i7.880
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, 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 by the 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
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
Core Tip
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.