Letter To The Editor
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Aug 14, 2019; 25(30): 4292-4293
Published online Aug 14, 2019. doi: 10.3748/wjg.v25.i30.4292
Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report
Debby Wensink, Margreet AEM Wagenmakers, JH Paul Wilson, Janneke G Langendonk
Debby Wensink, Margreet AEM Wagenmakers, JH Paul Wilson, Janneke G Langendonk, Porphyria Center Rotterdam, Center for lysosomal and metabolic disease, Department of Internal Medicine, Erasmus University Medical Center, Rotterdam 3015 GD, Netherlands
Author contributions: Wensink D drafted the manuscript; Langendonk JG, Wagenmakers MAEM and Wilson JH edited and revised the manuscript. Wensink D approved the final version of the manuscript.
Conflict-of-interest statement: Langendonk JG reports participation in trials sponsored by Clinuvel and Alnylam, outside the submitted work. All other authors declared no conflict-of-interest.
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: Janneke G Langendonk, MD, PhD, Internist, Department of Internal Medicine, Erasmus University Medical Center, Dr. Molenwaterplein 40, Rotterdam 3015 GD, Netherlands. j.langendonk@erasmusmc.nl
Telephone: +31-10-7035191 Fax: +31-10-7033639
Received: May 7, 2019
Peer-review started: May 7, 2019
First decision: June 9, 2019
Revised: July 17, 2019
Accepted: July 19, 2019
Article in press: July 19, 2019
Published online: August 14, 2019
Processing time: 100 Days and 5.8 Hours
Abstract

Erythropoietic protoporphyria (EPP) is an extremely rare disease which is often unrecognized as diagnosis. In the recent article Lui et al describe a patient with a new diagnosis of EPP with severe liver injury. Approximately 5%-20% of patients with EPP develop liver manifestations. The most severe complication of EPP is an hepatic crisis, which is a medical emergency requiring urgent treatment. Intensive treatment should consist of (exchange) transfusions and preferably in a center that performs liver transplantations.

Keywords: Erythropoietic protoporphyria; Liver disease; Blood transfusion; Protoporphyrin IX; Treatment

Core tip: Erythropoietic protoporphyria (EPP) can be complicated by severe liver injury. The major highlight of this letter is to stress that an EPP hepatic crisis has to be recognized as it can be fatal, and the best therapeutic options are (exchange) transfusions and preferably in a center that performs liver transplantations.