Wensink D, Wagenmakers MA, Wilson JP, Langendonk JG. Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report. World J Gastroenterol 2019; 25(30): 4292-4293 [PMID: 31435180 DOI: 10.3748/wjg.v25.i30.4292]
Corresponding Author of This Article
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
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Letter To The Editor
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. 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
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.
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.
